Hereditary disease

This early-stage trial tests whether transplanting lab-grown dopamine-producing cells into the brains of people with Parkinson's disease is safe and might help replace the cells lost to the disease. About 7 adults with Parkinson's who have not responded well to standard medicatio…

This early-stage trial is testing an investigational therapy called B019, which uses a patient's own immune cells engineered to recognize and attack leukemia cells. The study focuses on people with B-cell acute lymphoblastic leukemia that has returned or not responded to standard…

This early-stage trial tests a single intravenous infusion of NGGT002, a gene therapy designed to deliver a working copy of the PAH gene to adults with classic phenylketonuria (PKU). The goal is to see if this approach can safely lower phenylalanine levels in the blood, which cou…

This trial is testing an experimental therapy called CD22 CAR T cells in adults with certain types of B cell lymphomas that have come back or not responded to previous treatments. The therapy involves collecting a patient's own immune cells, modifying them to recognize and attack…

This study tests whether a vaccine can prevent C. difficile infection in adults 65 and older. About 32,000 participants will receive either the vaccine or a placebo shot. The study will track infections and side effects over up to three and a half years.

This study tests a drug called SIL-8301 (senicapoc) in 105 adults with sickle cell disease who have low hemoglobin but few pain crises. Participants take the drug or a placebo daily for 24 weeks, along with their usual hydroxyurea. The main goal is to see if the drug raises hemog…

This phase 2 study tests an oral drug called nemtabrutinib in about 490 people with blood cancers like chronic lymphocytic leukemia, non-Hodgkin lymphoma, and Waldenstrom's macroglobulinemia. The goal is to see if the drug can shrink tumors and control the cancer, while also chec…

This study tests an oral drug called nizubaglustat in children and teens aged 4 and older with Niemann-Pick type C disease, a rare genetic disorder that affects movement and thinking. Participants will take the drug or a placebo for 18 months to see if it slows the disease and im…

This study tests an experimental drug called ATV-1601 in people with moderate to severe HHT, a condition that causes frequent nosebleeds and anemia. The trial has two parts: first, participants receive either the drug or a placebo to check safety and effectiveness; then, all elig…

This study tests a program called CO-LEAD that trains doctors to use effective communication strategies and a patient survey to identify barriers to taking lupus medications. Researchers will enroll 480 patients and their clinicians at two academic centers. The goal is to see if …

This early-stage study tests a new treatment called C.001 for people with retinal diseases that cause vision loss, such as geographic atrophy and Stargardt disease. The treatment is given as a single injection into the eye. The main goal is to check if it is safe, and researchers…

This study tests whether patients can safely stop the drug tacrolimus earlier than usual after a stem cell transplant. Tacrolimus is given to prevent graft-versus-host disease (GVHD), but newer methods have lowered GVHD risk. The trial will enroll 50 people with blood cancers and…

This early-stage trial explores whether adding two experimental capsules, ND-12 and H-6, to standard mesalazine treatment can better control chronic inflammatory diarrhea in adults, including those with active ulcerative colitis. Participants will take the combination or a placeb…

This study tests a procedure called mucous fistula refeeding in 120 infants who have a temporary bowel opening (enterostomy). The idea is to take the baby's own stool and put it back into the lower bowel to help it get ready to work again. The goal is to see if this helps babies …

This phase 2 trial tests whether the drug nivolumab can slow or stop the growth of Epstein-Barr virus (EBV)-positive lymphoproliferative disorders and non-Hodgkin lymphomas. About 40 people aged 12 and older whose cancers have not responded to standard therapy will receive nivolu…

This trial tests whether two approved drugs, dabrafenib and trametinib, can treat rare cancers that have a specific genetic change called BRAF V600. These drugs are already used for melanoma and lung cancer, but researchers want to see if they help people with other cancer types.…

This early-stage trial is testing a new drug called DNL952 in 32 adults with late-onset Pompe disease. The main goal is to check if the drug is safe and how the body processes it. Participants will receive the drug through an IV infusion at different doses.

This phase 3 trial is testing a drug called fitusiran in about 85 boys aged 1 to under 12 with severe hemophilia A or B, including those with inhibitors that make standard treatments less effective. The drug is given as a regular shot under the skin to help prevent bleeding episo…

This study looks at the long-term safety of a drug called zigakibart for adults with IgA nephropathy, a kidney disease. It is for people who have already finished a previous zigakibart study. Researchers will monitor side effects and check kidney function over 96 weeks.

This phase 3 trial tests two injectable drugs, pozelimab and cemdisiran, alone or together, to slow the growth of geographic atrophy—an advanced form of dry age-related macular degeneration that causes central vision loss. About 975 participants will receive either the drugs or a…

This study tests the drug nirogacestat in 50 premenopausal women with desmoid tumors (a type of non-cancerous but aggressive growth). The main goal is to see if the drug affects ovarian function, such as menstrual periods and hormone levels. Participants take nirogacestat orally,…

This study looks at whether the diabetes drug pioglitazone can improve how the liver processes energy in people with nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes. Researchers will measure liver mitochondrial function using special tracers before and after 16 weeks…

This study tests whether a combination of three drugs (cyclophosphamide, bortezomib, and maraviroc) can safely prevent graft-versus-host disease after a half-matched bone marrow transplant in people living with HIV who also have a blood cancer. The trial involves 265 participants…

This study tests personalized radiotherapy approaches for people with lung cancer, brain metastases, or other solid tumors. It aims to see if adapting radiation based on how a patient responds is safe and effective. About 45 adults will participate, receiving either extra radiati…

This phase 2 trial tests an experimental drug called vamifeport in 84 adults with HFE-related hereditary hemochromatosis, a genetic condition causing iron buildup. The drug aims to reduce liver iron levels, potentially offering an alternative to regular blood removal. Participant…

This phase 3 trial is testing whether adding immunotherapy drugs (brentuximab vedotin and nivolumab) to standard chemotherapy (with or without radiation) improves survival for people aged 5 to 60 with newly diagnosed stage I or II classical Hodgkin lymphoma. About 1,875 participa…

This phase 2 trial is testing a new treatment called FT819 for people with lupus nephritis, a serious kidney complication of lupus. FT819 is made from donor immune cells that are engineered to target and destroy faulty B cells. The study will enroll 53 participants and aims to se…

Cystinosis is a rare inherited disease that causes kidney failure and poor growth due to cystine buildup in cells. This study follows 330 patients taking cysteamine, a drug that lowers cystine levels, to track long-term effects, detect new complications, and support genetic resea…

This study tests a gene therapy called ETX101 for children with Dravet syndrome, a severe form of epilepsy caused by a genetic change. The treatment uses a harmless virus to deliver a working copy of the gene to help control seizures. The trial includes infants and children up to…

This trial tests whether an internet-based form of cognitive behavior therapy (CBT) can reduce symptoms of common mental disorders like anxiety, depression, and stress-related conditions in adults seeking primary care. About 500 participants will be randomly assigned to either th…

This early-phase trial is testing a gene therapy called SGT-212 for Friedreich's ataxia, a rare genetic disease that damages the nervous system. Ten adults with the condition will receive the therapy through an injection into the brain and a vein. The main goal is to see if it is…

This early-phase trial is testing a new drug, FOG-001, in about 595 people with advanced or metastatic solid tumors, including colorectal, prostate, and liver cancers. The drug is given alone or with other cancer treatments to see if it is safe and shrinks tumors. The study is cu…

This study tests a device called PRIMA, which is implanted under the retina to help people with inherited retinal diseases like Stargardt disease and retinitis pigmentosa see better. The trial will enroll 5 adults with severe central vision loss and measure improvements in visual…

This study tests a new medicine called ersodetug for people whose tumors cause dangerously low blood sugar that standard treatments can't control. About 16 adults with insulin-producing tumors will receive the drug alongside their usual care. The main goal is to see if ersodetug …

This phase 3 trial tests whether a new drug called ABP 938 works as well as the approved treatment Eylea HD for wet age-related macular degeneration, a leading cause of vision loss. About 304 people aged 50 and older with untreated wet AMD will receive injections of either drug i…

This study compares two surgical approaches for Fuchs endothelial dystrophy, a condition that clouds the cornea. One is a full corneal transplant (DMEK), the other is a simpler procedure that removes only the diseased cells (DSO) plus Ripasudil eye drops to help healing. 60 parti…

This trial asks whether giving COPD medication through a nebulizer works better than a dry powder inhaler. It enrolls adults over 40 with COPD symptoms and significant air trapping. Participants receive either a nebulizer or inhaler treatment, and researchers compare changes in l…

This study tests whether a stem cell transplant from a healthy donor can treat GATA2 deficiency, a rare genetic condition that weakens the immune system and raises the risk of leukemia. Participants aged 6 to 70 with GATA2 mutations will receive chemotherapy or radiation before t…

This study tests a drug called enpatoran for people with lupus who have active skin rashes or lesions. About 202 participants will take either enpatoran or a placebo twice daily for 24 weeks, alongside their usual treatments. The goal is to see if the drug can significantly impro…

This study tests an experimental drug called AOC 1044 for boys with Duchenne muscular dystrophy (DMD) who have a specific genetic change (exon 44 skipping). About 70 boys aged 7 to 16 who can still walk will receive either the drug or a placebo. The main goal is to see if the dru…

This study tests a drug called AGA2115 in 80 adults with osteogenesis imperfecta (brittle bone disease) types I, III, or IV. Participants receive either the drug or a placebo as a shot under the skin. The main goal is to see if the drug increases bone density in the spine after 1…

This study tests whether a new drug called SUL-238 can improve energy production in brain cells of people with early, untreated Parkinson's disease. Forty-five participants will take either a low or high dose of SUL-238 or a placebo daily for 28 days. Researchers will use a speci…

This trial asks whether giving children a low-dose ketamine infusion after heart surgery can protect their brains from damage. Children aged 1 to 60 months undergoing surgery for certain congenital heart defects will receive either ketamine at one of two doses or no ketamine. Res…

This early-phase trial tests a personalized treatment for people with blood cancers like leukemia. Doctors take a patient's own T cells, modify them in the lab to recognize unique cancer mutations, and infuse them back after a short course of chemotherapy. The goal is to see if t…

This study tests whether giving a personalized dose of the chemotherapy drug fludarabine before CAR T-cell therapy can improve outcomes for children and young adults with relapsed or hard-to-treat B-cell acute lymphoblastic leukemia. About 130 participants will be randomly assign…

This early study tests baricitinib, a drug already approved for other immune conditions, in 20 people with Job syndrome who also have lupus-like disease or eczema. Participants take the pill daily for 6 months. The main goal is to see if it is safe and tolerable, while also check…

This study uses botulinum toxin (Botox) injections to treat movement disorders such as dystonia, tremor, and spasticity. Up to 2,000 participants aged 2 and older will receive tailored injections, with doctors trained in proper techniques. The goal is to manage symptoms and build…

This study tests a new exercise approach for people with COPD, a lung disease that makes breathing hard. Researchers will compare standard pulmonary rehab with a version that uses a blood flow restriction cuff during low-intensity aerobic exercise. The goal is to see if this meth…

This study tests whether a new drug, sacituzumab tirumotecan (Sac-TMT), given alone or with pembrolizumab, helps people with advanced triple-negative breast cancer live longer or keep their cancer from growing. About 1,000 adults whose cancer has spread and who have not had prior…

This study tests an experimental drug called DONQ52 in people with active celiac disease who still have gut damage and symptoms even after following a gluten-free diet for at least a year. About 92 adults will receive either the drug or a placebo to see if it can heal the small i…

This trial tests whether a structured six-month lifestyle modification program can improve penile blood flow and erectile function in men with metabolic syndrome-associated erectile dysfunction. Participants receive dietary counseling, exercise guidance, weight management, smokin…

This Phase 3 trial tests whether DYNE-101 can improve muscle function and daily life in 150 adults with myotonic dystrophy type 1 (DM1). Participants receive either the drug or a placebo by IV every few weeks for 48 weeks. The study measures how quickly people can stand from a ch…

This Phase 2 trial tests the drug asciminib in 50 adults newly diagnosed with chronic myeloid leukemia (CML). The goal is to see if asciminib can control the disease and to check for side effects. Participants take the drug by mouth, and researchers monitor their health closely.

This study tests whether combining two drugs, atezolizumab and selinexor, can shrink tumors in people with a rare cancer called alveolar soft part sarcoma (ASPS). About 27 adults with advanced or spreading ASPS will receive the combination. The goal is to see if this approach wor…

This study tests a gene therapy called ABBV-RGX-314 for people with wet age-related macular degeneration (AMD), a leading cause of vision loss. The goal is to see if a single treatment can reduce the need for frequent eye injections while keeping vision stable. About 561 adults a…

This trial is testing whether a lower weekly dose of the corticosteroid prednisolone (5 mg/kg per week) can be as effective as the standard higher dose (10 mg/kg per week) in preserving motor function in young boys with Duchenne muscular dystrophy (DMD). The study will enroll boy…

This study tests an experimental pill called enpatoran for people with lupus who have active skin rashes. About 202 participants will receive either the drug or a placebo for 24 weeks, while continuing their usual treatments. The goal is to see if enpatoran can significantly redu…

This study follows 200 adults in Japan with moderate to severe ulcerative colitis who are already prescribed risankizumab by their doctor. Researchers will track how well the drug controls symptoms like diarrhea and rectal bleeding over up to 156 weeks. The goal is to see if the …

This phase 3 trial tests whether a new drug (MK-2870), alone or with another drug (pembrolizumab), works better than standard treatments for people with a common type of advanced breast cancer (HR+/HER2-). About 1,200 participants whose cancer has worsened after hormone therapy w…

This study compares a new immunotherapy, MK-1045, to the standard drug blinatumomab in people whose B-cell acute lymphoblastic leukemia has returned or stopped responding to treatment. About 340 adults with CD19-positive leukemia will receive one of the two treatments. The goal i…

This Phase 3 trial tests a gene therapy called FLT201 for adults with Gaucher disease type 1. The goal is to see if a single dose can keep blood counts stable so patients can stop their regular enzyme replacement or substrate reduction therapy. The study will enroll 45 people who…

This study tests whether exemestane, a drug typically used for breast cancer, can help women with polycystic ovary syndrome (PCOS) ovulate. Participants take either a low or high dose of exemestane or a placebo for 5 to 10 days. Researchers track ovulation through blood tests and…

This study looks at how long adults with plaque psoriasis and a common liver condition called MASLD (fatty liver disease) continue taking the drug secukinumab. Researchers will review medical records from several Spanish hospitals to track treatment duration and changes in liver …

This Phase 3 trial tests an oral drug called nizubaglustat (AZ-3102) in people aged 4 and older with Niemann-Pick type C disease, GM1 gangliosidosis, or GM2 gangliosidosis. The study lasts 18 months and compares the drug to a placebo to see if it is safe and can slow disease prog…

This study offers continued access to HIV medications (fostemsavir or dolutegravir/lamivudine) for 183 people who completed earlier ViiV Healthcare studies and are still benefiting. The goal is to provide treatment while collecting more safety information. Participants must have …

This phase 3 study tests anifrolumab, a biologic drug given by IV, in 100 children aged 5 to 18 with moderate to severe systemic lupus erythematosus (SLE). Participants continue their standard care and are randomly assigned to receive anifrolumab or a placebo. The goal is to see …

This study tests a new medicine called afimkibart in children aged 2 to 17 with moderate to severe ulcerative colitis, a disease that causes inflammation and sores in the colon. The goal is to see if the drug can safely help children feel better and achieve remission (no symptoms…

This study tests the drug acalabrutinib in people with chronic lymphocytic leukemia (CLL) who also have moderate to severe heart failure. Researchers want to see if acalabrutinib causes fewer heart-related side effects compared to other standard treatments. About 60 adults will t…

This study compares two standard procedures—minimally invasive TAVR and open-heart surgery (SAVR)—for replacing a diseased aortic valve in people with a bicuspid aortic valve. About 1,200 participants aged 50 and older with severe aortic stenosis will be randomly assigned to one …

This study tests whether GAL-101 eye drops can slow the growth of geographic atrophy, a form of advanced age-related macular degeneration that causes blind spots. About 110 adults aged 55 and older with early-stage atrophy will use the drops or a placebo daily for up to two years…

This study tests a cell therapy called OpRegen for people with geographic atrophy, an advanced form of dry age-related macular degeneration that causes blind spots. About 60 participants will receive a one-time injection of retinal cells under the retina during eye surgery. The m…

This study is testing the drug vedolizumab (Entyvio) in 400 adults with moderate to severe ulcerative colitis or Crohn's disease. Participants first receive the drug through an IV for 6 weeks, then switch to injections under the skin for the rest of the year. The main goal is to …

This phase 3 study tests the drug risankizumab in about 120 children aged 2 to 18 with moderate to severe ulcerative colitis. The trial has three parts: an initial 12-week IV treatment period, a 52-week maintenance phase where patients get one of two doses by injection, and a lon…

This study tests an oral drug called SAT-3247 in 51 boys aged 7 to 10 with Duchenne muscular dystrophy who can still walk. The goal is to find the best dose, check safety, and see if it helps muscle strength. Participants take the drug or a placebo for 12 weeks, and all continue …

This Phase 3 trial tests whether mezagitamab, an injectable drug, can reduce protein in the urine and preserve kidney function in adults with IgA nephropathy, a condition where immune complexes damage the kidneys. About 347 participants will receive either mezagitamab or a placeb…

This study is testing whether a simple, standard prevention plan works as well as a personalized one for people who get calcium oxalate kidney stones. 80 participants will either receive a diuretic and diet advice based on their stone type alone, or have their treatment guided by…

This Phase 3 trial tests a new drug called nucresiran in 125 people with a rare inherited condition that damages nerves (hATTR-PN). The drug is given as a shot under the skin every 6 months and aims to slow nerve damage and improve quality of life. Researchers will compare it to …

This study tests whether adding a common water pill (hydrochlorothiazide) to the standard drug tolvaptan can slow kidney function decline and reduce side effects like frequent urination in people with autosomal dominant polycystic kidney disease (ADPKD). About 300 adults on a sta…

This study tests a new drug called flonoltinib maleate in 60 people with polycythemia vera (a condition where the body makes too many red blood cells) who cannot take or no longer respond to standard treatments. The goal is to see if the drug safely reduces red blood cell levels …

This trial tests a new approach for glioblastoma, an aggressive brain cancer. A device implanted in the skull uses ultrasound to temporarily open the blood-brain barrier, allowing immune-boosting drugs to reach the tumor. The study involves 25 adults who have completed radiation,…

This phase 3 trial is testing whether adding a targeted therapy called Sacituzumab tirumotecan (Sac-TMT) to standard chemotherapy and immunotherapy (pembrolizumab) can better eliminate cancer before surgery in people with high-risk, early-stage triple-negative or hormone-receptor…

This Phase 2 trial tests whether adding the experimental drug silevertinib to standard chemotherapy (temozolomide) helps people with a specific type of newly diagnosed glioblastoma live longer without their cancer worsening. The study includes 162 participants whose tumors have c…

This study tests a combination of five drugs (venetoclax, ibrutinib, prednisone, obinutuzumab, and lenalidomide, called ViPOR) in adults with B-cell lymphoma that has come back or not responded to prior treatment. The main goal is to check the safety of this drug mix. Up to 155 p…

This early-stage trial is testing two experimental drugs, vonsetamig and odronextamab, in people with lupus nephritis that has not responded to standard treatments. The main goal is to check safety and side effects over the long term. Researchers will also see if the drugs can he…

This study tests a one-time gene therapy called SGT-003 in 80 boys with Duchenne muscular dystrophy who can still walk. The goal is to see if it helps them move better, like standing up faster and climbing stairs. Participants will receive either the therapy or a placebo first, t…

This early-stage trial tests a new type of cell therapy for children whose embryonal tumors (rhabdomyosarcoma, Ewing sarcoma, neuroblastoma, or Wilms tumor) have returned or not responded to standard treatments. The therapy uses the patient's own immune cells, engineered to bette…

This early-stage trial tests a new gene-editing approach for X-linked chronic granulomatous disease (X-CGD), a rare immune disorder. Researchers will collect stem cells from 10 adult male participants, use base editing to correct the genetic mutation, and return the cells after m…

This study tests a stem cell transplant using cells from mismatched unrelated or partially matched family donors for people with severe sickle cell disease and other transfusion-dependent anemias. The approach removes certain immune cells (T-cells) from the donated stem cells to …

This early-stage study tests an experimental drug called EXS73565 in about 50 adults with certain blood cancers (like lymphoma or leukemia) that returned or didn't respond to standard treatments. The main goal is to check safety and find the right dose, while also seeing if the d…

This global phase 3 trial is testing whether a daily pill called etavopivat can reduce the number of painful sickle cell crises in adolescents and adults with sickle cell disease. About 408 participants will be randomly assigned to receive either etavopivat or a placebo for aroun…

This study tests a gel called TolaSure on people aged 4 and older with epidermolysis bullosa simplex, a condition that causes fragile skin and blisters. For the first 2 months, some participants get the gel and others get a placebo; then everyone gets the gel for another 2 months…

This study tests whether a pulmonary rehabilitation program delivered via telehealth can help people with chronic obstructive pulmonary disease (COPD) recover after a hospital stay for a sudden worsening of their condition. Participants will join an eight-session remote program, …

This study tests a gene therapy for people aged 2 to 50 with X-linked severe combined immunodeficiency (SCID-X1), a condition that leaves them without a working immune system. Participants receive their own blood stem cells that are genetically corrected in a lab, then infused ba…

This study is testing deep brain stimulation (DBS) surgery for people with Parkinson's disease, essential tremor, or dystonia that doesn't improve enough with medication. DBS uses a device like a pacemaker to send electrical pulses to specific brain areas that control movement. R…

This study looks at the long-term safety and effectiveness of etavopivat, an experimental medicine for sickle cell disease and thalassemia. It involves 480 adults, adolescents, and children who have already benefited from etavopivat in a previous study. Participants will continue…

This study tests a new oral drug, QTX-2101, combined with standard ATRA therapy for adults newly diagnosed with a low-risk form of acute promyelocytic leukemia (APL). The goal is to see if the oral capsule works as well as the current intravenous treatment. About 150 participants…

This study tests whether a low dose of glucagon, given before exercise, can prevent blood sugar drops in adults with type 1 diabetes who use an automated insulin pump. Eighteen participants will exercise after a meal, comparing glucagon to a standard glucose drink. The goal is to…

This study tests an investigational drug called ENTR-601-44 in 24 boys and young men with Duchenne muscular dystrophy (DMD) whose genetic mutation can be treated by skipping a specific part of the gene (exon 44). The trial has two parts: first, to find the safest and most effecti…

This study tests an experimental drug called EPX-100 (clemizole) in 150 children and adults with Dravet syndrome, a severe form of epilepsy. The goal is to see if adding EPX-100 to current treatments can safely reduce the number of motor seizures. Participants will be randomly as…

This program provides continued access to lucerastat for people with Fabry disease who were previously enrolled in a clinical trial of this drug. The goal is to allow these patients to keep receiving the treatment after the original study was stopped. It focuses on maintaining tr…

This study tests an investigational drug called ENTR-601-45 in people with Duchenne muscular dystrophy (DMD) who have a specific genetic change (exon 45 skipping). The goal is to check the drug's safety, find the right dose, and see if it can help muscles work better. About 24 ma…

This study tests a drug called soquelitinib in 15 people aged 16 and older with autoimmune lymphoproliferative syndrome (ALPS). The goal is to see if the drug can shrink an enlarged spleen or lymph nodes and improve low blood cell counts. Participants take the pill twice daily fo…

This study tests if the drug vorinostat is safe and can help people with moderate-to-severe Crohn's disease by reducing gut inflammation. Participants who respond well may then receive a maintenance treatment with ustekinumab for up to two years. The goal is to control symptoms a…

This study tests two daily doses (50 mg and 100 mg) of the medicine ritlecitinib in about 550 people aged 12 and older with severe alopecia areata, a condition causing significant hair loss on the scalp and body. The 50 mg dose is already approved, and researchers want to see if …

This phase 3 trial tests whether a cream called SD-101 can help close wounds in children with epidermolysis bullosa (EB), a condition that causes fragile, blistering skin. About 80 children aged 1 month to 12 years will apply the cream or a placebo to their whole body for 2 month…

This phase 2 trial tests whether a mix of intensified antiretrovirals, a latency-reversing drug, an anti-proliferative drug, and a personalized vaccine can shrink the hidden HIV reservoir enough to allow people to stop their daily medication. The study will enroll 70 adults with …

This early-phase trial tests a gene therapy called AVB-101 for people with frontotemporal dementia caused by GRN gene mutations. The therapy delivers a working copy of the GRN gene directly into the brain during a one-time procedure. The study will enroll 18 adults aged 30-75 to …

This study tests a drug called tivozanib in people with bile duct cancer that cannot be removed by surgery and has already been treated with chemotherapy. The goal is to find the safest dose and see if the drug can shrink tumors or slow the cancer. Participants take tivozanib by …

This study tests a new drug, atumelnant, in 150 adults with classic congenital adrenal hyperplasia (CAH). The goal is to see if it can safely control hormone levels and allow patients to take lower doses of their usual steroid medications. Participants will receive either atumeln…

This program provides access to an experimental drug, AOC 1044, for people with Duchenne muscular dystrophy (DMD) whose genetic mutation can be treated by skipping exon 44. The goal is to help control the disease and improve muscle function. Participants must be at least 2 years …

This study is testing a pacemaker lead placed in a specific area of the heart called the left bundle branch area. The goal is to see if this placement is safe and helps the heart beat more naturally in people with slow heart rates. About 140 participants will get the lead and be …

This study tests two oral drugs, eflornithine (DFMO) and AMXT 1501, in children and young adults up to age 26 with certain cancers that have come back or not responded to treatment. The cancers include neuroblastoma, brain tumors, and sarcomas. The goal is to find a safe dose and…

This study tests a one-time gene therapy called ECUR-506 in baby boys under 9 months old with a severe form of OTC deficiency, a genetic disorder that prevents the body from breaking down ammonia. The goal is to see if the treatment is safe and can reduce dangerous ammonia levels…

This trial tests a 9-month program for women who had preeclampsia during their first pregnancy. The program includes online screening, group meetings, and a smartphone app to help monitor blood pressure and weight. Researchers want to see if it improves heart health and promotes …

This study tests an experimental drug called DISC-0974 in about 150 adults with myelofibrosis or myelodysplastic syndrome (MDS) who also have anemia. The goal is to see if the drug can reduce the need for blood transfusions and increase red blood cell levels. The study is in earl…

This study tests whether combining two drugs—vedolizumab and tofacitinib—can quickly bring moderate to severe ulcerative colitis under control. About 65 adults will receive both drugs for 8 weeks, and those who respond will continue on vedolizumab alone for nearly a year. The goa…

This study tests a new treatment called AZD0120 for people with severe lupus that hasn't improved with standard therapies. AZD0120 is a type of CAR T cell therapy that targets two proteins (CD19 and BCMA) on immune cells to calm the overactive immune system. The trial will enroll…

This study tests a new digital tool called P3-EX that helps doctors create personalized exercise plans for patients with heart disease risk factors like high blood pressure, diabetes, and obesity. Researchers will recruit 24 doctors and 48 patients to compare the new tool with a …

This study tests whether a medicine called Panzyga can prevent major infections in people with autoimmune or rheumatic conditions who have low antibody levels after receiving B-cell depletion therapy. About 360 adults will receive either Panzyga or a placebo, and researchers will…

This study tests an experimental drug called BAY 3401016 in 60 adults aged 18 to 45 with Alport syndrome, a rare genetic condition that damages kidneys, hearing, and eyes. The drug works by blocking a protein thought to cause kidney injury, with the goal of slowing the loss of ki…

This study tests an experimental drug, YOLT-203, in 36 children and adults with primary hyperoxaluria type 1 (PH1), a rare genetic condition that causes painful kidney stones and kidney damage. The goal is to see if a single dose can safely lower oxalate levels in urine and blood…

This phase 3 study is testing an oral drug called NNZ-2591 in 180 children aged 3 to 12 with Phelan-McDermid syndrome, a rare genetic condition that causes developmental delays and other challenges. The main goal is to see if the drug is safe and tolerable over the long term. Res…

This early-phase study tests a new treatment called GCAR1, which uses a patient's own immune cells (T-cells) that have been modified to recognize and attack cancer cells carrying a specific marker (GPNMB). The study enrolls 30 adults in Canada with advanced alveolar soft part sar…

This trial investigates whether taking capsules containing freeze-dried fecal matter from healthy donors—known as fecal microbiota transplantation (FMT)—can improve pregnancy outcomes and metabolic health in overweight or obese women with polycystic ovary syndrome (PCOS) who are …

This trial tests whether adding voclosporin to standard lupus nephritis treatment (mycophenolate mofetil and prednisolone) reduces kidney inflammation faster and more completely than standard treatment alone. Adults with active lupus nephritis will be randomly assigned to either …

This study tests whether HBS-301 (pitolisant) can reduce excessive daytime sleepiness and cataplexy (sudden muscle weakness) in adults with narcolepsy. Participants receive either the drug or a placebo for several weeks, followed by an open-label phase where everyone gets the dru…

This study tests a new drug called GSK3862995B in 446 adults with bronchiectasis, a long-term lung condition. The goal is to see if the drug can reduce the number of serious lung infections (exacerbations) compared to a placebo. Participants will receive either one of two doses o…

This early-stage trial tests a drug called ALN-APP (mivelsiran) in 60 adults with mild cognitive impairment or mild dementia due to early-onset Alzheimer's disease. The drug is given via a spinal injection to see if it safely lowers certain proteins linked to Alzheimer's in the b…

This study tests a daily oral medication called atumelnant in children aged 1 to 18 with classic congenital adrenal hyperplasia, a genetic condition that disrupts hormone production. The goal is to see if the drug can safely normalize hormone levels and allow patients to lower th…

This study tests several experimental treatments for progressive supranuclear palsy (PSP), a rare brain disease that affects movement and thinking. About 440 people with early-stage PSP will receive one of the treatments or a placebo. The goal is to see if any of the treatments c…

This program provides access to an experimental oral medication called deucrictibant for people with hereditary angioedema (HAE) who have no satisfactory alternative treatments for acute attacks. Eligible participants, aged 12 to 75, take the capsule as needed to manage swelling …

This study tests an oral drug called NNZ-2591 in 160 children aged 3 to 12 with Phelan-McDermid syndrome, a rare genetic condition. The drug is compared to a placebo to see if it improves communication and daily function. The trial is double-blind, meaning neither the families no…

This study tests a device called the Eclipse XL1 that is placed inside the body to slowly stretch and lengthen the remaining small intestine in people with short bowel syndrome. The goal is to improve nutrition and reduce the need for intravenous feeding. The study will enroll 40…

This early-stage study tests an experimental drug called ALN-HTT02 in 66 adults with Huntington's disease. The drug is given as a single injection into the spine to see if it is safe and how it affects the body. The goal is to reduce levels of the harmful protein that causes the …

This phase 2 trial tests an oral drug called ibezapolstat in 20 people who have had three or more C. diff infections in the past year. The goal is to see if the drug can cure the current infection and reduce the chance of it coming back. Participants will take the drug twice a da…

This study is testing whether combining two different biologic drugs can better control moderate to severe Crohn's disease. One hundred adults will first receive either vedolizumab plus adalimumab or vedolizumab plus ustekinumab. Those who respond well will then switch to vedoliz…

This study tests an oral medication called remibrutinib for adults with moderate-to-severe papulopustular rosacea, a skin condition causing red bumps and pustules on the face. The drug works by blocking a protein involved in inflammation. Researchers will measure whether it reduc…

This study tests a once-daily pill called etavopivat in children (6 months to 18 years) with sickle cell disease. The main goals are to check safety and how the drug works in the body, and to see if it can raise hemoglobin levels and reduce painful crises. About 95 children will …

This study tests a daily pill called filgotinib in 80 children aged 8 to 17 with moderate to severe ulcerative colitis, a chronic gut disease. The goal is to see if the drug can reduce inflammation and help children feel better. All participants receive the drug, and the study tr…

This early-stage study tests a new therapy, HN2301, in 30 adults with lupus, scleroderma, or rheumatoid arthritis. The main goal is to check safety and find the right dose. Researchers will also look for early signs that the treatment helps control the disease by measuring immune…

This Phase 3 study tests an experimental drug called ION582 in 158 children and adults with Angelman syndrome, a genetic disorder causing severe developmental delays. The drug is given as a spinal injection and aims to improve expressive communication and cognitive skills. Partic…

This trial tests whether doing core stability exercises via telerehabilitation works as well as in-person physiotherapy for postpartum women with diastasis recti, a condition where abdominal muscles separate. Participants will be randomly assigned to either remote or in-person su…

This study tests whether adding a structured coping skills program to standard biologic medication improves emotional well-being and disease remission in people with early Crohn's disease. 170 adults with active Crohn's for less than 5 years will receive either the coping program…

This study follows 255 patients of any age (weighing over 3 kg) who receive a device called the Occlutech PDA Occluder to close a common heart defect called patent ductus arteriosus (PDA). The device is inserted through a blood vessel, avoiding open-heart surgery. Researchers wil…

This study is watching how well asciminib works and how safe it is in adults with a type of blood cancer called chronic myeloid leukemia. It includes people who are newly diagnosed or have already tried one other treatment. The main goal is to see how many patients reach a very l…

This Phase 2 study tests an oral drug called RLY-2608 in adults and children with overgrowth conditions (like CLOVES or Klippel-Trenaunay syndrome) caused by PIK3CA gene mutations. The drug is designed to block the faulty protein driving abnormal tissue growth. The trial will enr…

This study tests whether adding risdiplam, a daily oral medicine, can help children under 2 with spinal muscular atrophy (SMA) who stopped getting better or started declining after receiving gene therapy. The study will enroll 28 children and measure changes in motor skills over …

This study tests a new medicine called ANG003 for people with cystic fibrosis who have trouble digesting food (exocrine pancreatic insufficiency). The medicine is a type of enzyme replacement therapy, similar to the current standard treatment Creon. About 113 participants will re…

This study tests an enhanced Mentor Mother strategy, where trained peer counselors provide tailored support to pregnant and postpartum women living with HIV. The goal is to see if this approach can be successfully implemented and improve health outcomes, such as keeping mothers i…

This phase 3 trial is testing whether a targeted drug (trastuzumab deruxtecan) combined with immunotherapy (rilvegostomig or pembrolizumab) works better than standard chemotherapy plus pembrolizumab for people with advanced or recurrent endometrial cancer that has a specific prot…

This early-stage study is testing a new drug called M0324, a bispecific antibody designed to target cancer cells. The trial will look at M0324 alone, with the immunotherapy pembrolizumab, and with chemotherapy in about 77 people with advanced solid tumors that have not responded …

This study tests a new way to give Alpha1-Proteinase Inhibitor—a medicine that helps protect the lungs in people with Alpha-1 Antitrypsin Deficiency. Instead of getting it through a vein at a clinic, participants will receive it as a weekly injection under the skin. The trial wil…

This study tests whether a targeted laser treatment, called photothermal therapy, can slow the progression of intermediate age-related macular degeneration (AMD). About 240 people aged 60–90 with intermediate AMD will receive either the laser or a sham procedure. The main goal is…

This trial tests whether a mobile app called NutriSteppe can improve blood sugar control and weight loss in adults with type 2 diabetes or obesity who are already taking GLP-1 medications like semaglutide. Over 12 weeks, half the participants will use the app for personalized mea…

This phase 3 trial compares a once-weekly growth hormone injection (lonapegsomatropin) to a daily one (somatropin) in 186 prepubertal children with growth failure due to Turner syndrome, SHOX deficiency, being small for gestational age, or idiopathic short stature. The goal is to…

This study is for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain and skin reactions to sunlight. The purpose is to check the long-term safety of an oral medication called dersimelagon. About 301 participant…

This Phase 3 trial tests whether seladelpar, a daily pill, can improve outcomes for people with primary biliary cholangitis (PBC) who also have compensated cirrhosis. About 318 adults will receive either seladelpar or a placebo for up to 36 months. The study tracks serious events…

This expanded access program offers a cell therapy called afamitresgene autoleucel (afami-cel) to people with synovial sarcoma or myxoid liposarcoma whose manufactured dose didn't meet commercial standards. Eligible patients have no other feasible treatment options. The therapy i…

This Phase 3 trial tests whether the drug votoplam can slow the progression of Huntington's disease in people with early symptoms. About 770 adults aged 21 to 70 with a confirmed genetic diagnosis will receive either votoplam or a placebo. The main goal is to see if votoplam pres…

This trial is testing whether adding a Lactobacillus probiotic or a trace element supplement to standard ulcerative colitis treatment can help keep the disease in remission. About 132 adults with mild to moderate ulcerative colitis will be randomly assigned to one of three groups…

This study tests a new medicine (S230815) for children aged 2-12 with a rare, severe epilepsy caused by changes in the KCNT1 gene. The goal is to see if the drug is safe and can help control seizures. About 20 children will take part, receiving the drug through a spinal injection…

This study tests a device that delivers tiny electrical pulses through the eyelid to the back of the eye. The goal is to see if it can safely slow vision loss or improve sight in people with intermediate to advanced dry age-related macular degeneration. One hundred participants w…

This study tests a small device called C-MIC that is implanted without open-heart surgery to help people with heart failure. It includes 22 adults with weak heart pumping (ejection fraction between 25% and 50%) despite standard medications. The device delivers microcurrents to th…

This study tests a drug called cosibelimab in 80 people with advanced skin cancer who also have a kidney transplant or a blood cancer. The drug works by helping the immune system attack cancer cells. Researchers will check if the tumors shrink and monitor for side effects.

This phase 2 trial compares a drug combo (ASTX727 plus iadademstat) against ASTX727 alone for people with advanced myeloproliferative neoplasms (MPNs), a group of rare blood cancers. The study aims to see if adding iadademstat improves complete response rates. However, the trial …

This phase 2 trial is testing whether an experimental biologic drug called galvokimig can delay the first moderate or severe lung infection (pulmonary exacerbation) in adults with non-cystic fibrosis bronchiectasis, a chronic lung condition that causes coughing, mucus buildup, an…

This early-phase trial tests a single intravenous dose of a gene editing therapy called LNP.UCD.ABE in 7 children with severe urea cycle disorders. The therapy aims to correct the genetic defect using a lipid nanoparticle to deliver a base editor. The main goal is to check safety…

This study tests brain surgery as a treatment for people whose epilepsy doesn't improve with medication. About 300 children and adults aged 8 and older will have surgery to remove or treat the part of the brain causing seizures. The goal is to stop or greatly reduce seizures, tho…

This registry is collecting information from 1,500 people with Parkinson's disease who are receiving deep brain stimulation (DBS) with the Vercise system. The goal is to see how DBS affects quality of life in everyday practice, and to evaluate new programming tools. Participants …

This study tests SureSmile clear aligners in 90 adults with crooked teeth (malocclusion). It compares three different aligner edge designs to see which moves teeth most accurately. Participants wear the aligners as usual, and researchers measure tooth movement against predictions…

This trial investigates whether a non-invasive brain stimulation technique called temporal interference stimulation (TIS) can improve motor and speech function in people with Parkinson's disease. TIS uses two high-frequency electrical fields to precisely target deep brain regions…

This study tests a drug called salanersen in babies with spinal muscular atrophy (SMA) who have already received gene therapy. The drug aims to help the body make more SMN protein, which is needed for muscle function. About 42 babies with two copies of the SMN2 gene will be rando…

This trial tests whether methylphenidate, a standard ADHD medication, can reduce attention and hyperactivity problems in children and adolescents with KBG syndrome, a rare genetic condition often accompanied by ADHD-like symptoms. Participants receive alternating blocks of the dr…

This study tests a drug called salanersen in babies who have a genetic diagnosis of spinal muscular atrophy (SMA) but no symptoms yet. The drug helps the body make more of a protein that is missing in SMA, which is needed for muscles to work. Researchers want to see if starting t…

This study tests a new drug called AZD4956, alone or with other cancer drugs, in people with advanced or spreading solid tumors that have a specific DNA repair defect (HRR deficiency). The main goals are to check safety, find the best dose, and see if the drug can shrink tumors. …

This Phase 2 study tests a drug called apitegromab in 60 adults with facioscapulohumeral muscular dystrophy (FSHD), a genetic condition that causes muscle weakness. Participants will receive either the drug or a placebo every 4 weeks for a year. The main goal is to see if the dru…

This study tests a new treatment called afamitresgene autoleucel in children and young adults aged 2 to 21 with advanced cancers that have a specific marker (MAGE-A4). The treatment uses the patient's own immune cells, modified to attack the cancer. The main goals are to check sa…

This study tests a daily pill called deucravacitinib in teenagers aged 12 to 18 with moderate to severe plaque psoriasis. About 366 participants will receive either the drug or a placebo. The main goals are to see if the drug improves skin clearance by at least 75% and reduces ov…

This study tests a program called LAGOM designed to improve heart health and quality of life for people with psychotic disorders. 644 adults from six clinics in Gothenburg will either receive the LAGOM program or standard care. The program includes regular check-ups, motivational…

This study tests a new drug called ARO-DM1 in 78 adults aged 18-65 with type 1 myotonic dystrophy, a genetic muscle disorder. The goal is to check safety and how the body processes the drug. Participants receive either ARO-DM1 or a placebo by IV or injection. It is an early-stage…

This trial is testing whether personalized, adaptive treatment strategies can help people hospitalized with acute severe ulcerative colitis. The approach adjusts medication based on how each patient responds, aiming to improve outcomes and reduce the need for colon removal. The s…

This study tests an experimental drug called ARO-DUX4 in people with facioscapulohumeral muscular dystrophy type 1 (FSHD1), a genetic condition that causes muscle weakness. The main goal is to check the drug's safety and how the body processes it. About 60 adults and teens will r…

This early-stage trial tests an oral drug called SVG103 (Paxalisib) in 15 adults with rare brain conditions (FCD-II, TSC, or HME) that cause seizures. The main goal is to check safety and side effects, while also seeing if it reduces seizure frequency. Participants take the drug …

This early-stage trial tests a new gene-editing medicine called TSRA-196 in 72 adults with a severe form of alpha-1 antitrypsin deficiency (the PiZZ genotype) who have lung or liver problems. The treatment is given by IV infusion and aims to raise levels of a protective protein. …

This study tests a combination of two drugs, nilotinib (a pill) and paclitaxel (given by IV), for people with rare advanced cancers that have not responded to standard treatments. The goal is to see if the drugs can shrink or stop tumor growth. About 82 adults with specific rare …

This study is testing a device called a flow modulator to treat wide-necked brain aneurysms. The device is placed inside the artery to redirect blood flow away from the aneurysm, helping it close off. Researchers will check if the device is safe and effective in 214 adults over 1…

This early-stage trial will test the safety and tolerability of a new oral drug called Lu AF28996 in 10 Chinese adults with Parkinson's disease. Participants will take the drug and be monitored for side effects and how the body processes it. The study is not yet recruiting and do…

This extension study follows people with von Hippel-Lindau (VHL) disease or advanced solid tumors who are already taking belzutifan in another trial. The goal is to see how long they live and how safe the drug is over the long term. About 450 participants will take belzutifan by …

This study tests a new biologic drug called ARGX-119 in children aged 5 to 17 with spinal muscular atrophy (SMA). About 60 participants will receive either ARGX-119 or a placebo by IV infusion for 24 weeks, alongside their usual SMA therapy. The goal is to find the best dose and …

This study tests whether eating only during a specific window each day (time-restricted feeding) can improve metabolic health in postmenopausal women who have metabolic syndrome or are prediabetic. Researchers will measure changes in insulin sensitivity, body weight, and blood fa…

This study tests a new medicine called marstacimab in children aged 1 to 17 with severe hemophilia A or B. The medicine is given as a weekly shot under the skin to prevent bleeding episodes. Researchers will compare how well it works to the children's own past year of standard tr…

This early-stage trial tests a single dose of SGT-501, a gene therapy given by IV, in 18 people with a rare inherited heart condition called CPVT that can cause dangerous fast heartbeats during exercise or stress. The main goal is to check safety and find the right dose in adults…

This early-stage trial tests whether transplanting lab-grown retinal cells into the eye is safe for people with geographic atrophy from dry age-related macular degeneration. Twenty participants aged 55 and older will receive a transplant of their own reprogrammed cells into one e…

This study tests a daily pill called enlicitide decanoate in 153 children and teens with heterozygous familial hypercholesterolemia (HeFH), a genetic condition causing very high cholesterol. The goal is to see if the drug safely lowers LDL cholesterol more than a placebo. Researc…

This phase 2 trial tests luspatercept (Reblozyl) in adults and adolescents with alpha-thalassemia, a genetic blood disorder that causes anemia. The goal is to see if the drug can reduce the need for blood transfusions and raise hemoglobin levels. About 189 participants will recei…

This trial compares two phacoemulsification systems used in cataract surgery to see which removes the cataract more efficiently and leads to better early recovery. Each participant will have one eye treated with the UNITY VCS system and the other with the Centurion system, allowi…

This phase 3 trial tests a drug called afimkibart in 100 children aged 2-17 with moderate-to-severe Crohn's disease. The goal is to see if it can help children feel better and heal their intestines. Participants will receive the drug as an IV infusion or injection, and researcher…

This study is testing a refillable eye implant that delivers the drug ranibizumab to treat wet age-related macular degeneration (AMD). The main goal is to see if the implant affects the cells on the inner surface of the cornea. About 188 people with wet AMD will receive the impla…

This study tests a new drug called AZD9750, alone or with another drug (saruparib), in 300 men with metastatic prostate cancer that has progressed despite standard treatments. The goal is to check safety, find the right dose, and see if it can lower PSA levels, a marker of cancer…

This phase 2 trial tests a drug called emapalumab in 10 people with APECED, a rare disease where the immune system attacks the body. The drug aims to reduce gut inflammation (enteritis) that causes severe symptoms. Participants receive 7 IV doses over 6 months, and researchers tr…

This study tests a new way to give the drug rilvegostomig as a shot under the skin instead of through an IV. It is for adults with advanced solid tumors who have already tried standard treatments. The goal is to find a dose that works as well as the IV version and to check for si…

This study tests whether the drug LP352 can safely reduce seizures in children and adults with Dravet syndrome, a severe form of epilepsy. About 160 participants will receive either LP352 or a placebo, and researchers will track changes in seizure frequency over several months. T…

This study tests whether a once-weekly combination of two experimental drugs (islatravir and ulonivirine) works as well as the standard daily three-drug pill Biktarvy for people newly diagnosed with HIV-1. About 570 adults who have never taken HIV medication will be randomly assi…

This phase 2 trial tests the drug momelotinib in 57 people with VEXAS syndrome, a rare inflammatory condition that may also involve a bone marrow disorder called MDS. Participants receive momelotinib daily, and doctors check if symptoms improve and if steroid doses can be lowered…

This study tests a new gene therapy (VV-14295) given as an injection into the eye for people with geographic atrophy, a form of advanced dry age-related macular degeneration that causes blind spots. The goal is to see if it is safe and can slow the growth of these blind spots. Ab…

This study tests a CAR T-cell drug called brexucabtagene autoleucel in 40 adults with B-cell acute lymphocytic leukemia that has come back or is hard to treat. Participants first receive standard chemotherapy drugs to reduce cancer, then get the CAR T-cells. The goal is to see if…

This study tests whether XEN1101, taken alongside current seizure medications, can reduce the number of generalized tonic-clonic seizures (convulsions affecting the whole body). About 160 people aged 12 and older with these seizures will receive either XEN1101 or a placebo for se…

This study tests whether an internet-based depression treatment called cognitive behavioral therapy (iCBT-D) can prevent insulin resistance from getting worse in adults with HIV who are on antiretroviral therapy and have depression. Researchers will compare the online therapy pro…

This Phase 3 trial tests a new combination of two hormones (follitropin alfa and lutropin alfa) against a standard treatment (hMG) for Japanese women with LH and FSH deficiency who are undergoing IVF. The goal is to see which treatment helps produce more eggs for retrieval. About…

This study tests a drug called zigakibart in 32 adults with IgA nephropathy, a kidney disease. The goal is to see if it can reduce signs of kidney damage and slow disease progression. Participants must have a recent kidney biopsy and persistent protein in their urine despite stan…

This trial is investigating whether combining an immunotherapy drug (a PD-1 inhibitor like sintilimab or pembrolizumab) with progesterone therapy can help young women with early-stage, mismatch repair-deficient (MMRd) endometrial cancer achieve complete remission while preserving…

This study enrolls 950 men with suspected but undiagnosed prostate cancer who are scheduled for a biopsy. Researchers will compare the accuracy of prostate MRI against a panel of blood and urine biomarkers (PCA3, PSA, TMPRSS2:ERG) in detecting clinically significant prostate canc…

This trial explores whether a PSMA PET scan can detect changes in glioblastoma, an aggressive brain cancer, after treatment with bevacizumab. About 20 adults with IDH-wildtype glioblastoma will receive PSMA scans before and after bevacizumab therapy. The goal is to see if PSMA ex…

This study aims to improve how doctors diagnose Cushing's syndrome, a condition caused by too much cortisol. Researchers will test the accuracy of the desmopressin stimulation test in 140 people aged 18-70 who have or may have Cushing's, plus healthy volunteers. Participants will…

This study looks at whether a virtual reality maze test can measure how well people with age-related macular degeneration (AMD) see in dim light. It will compare results from this VR test with a standard dark adaptation test in older adults with early or intermediate AMD and in h…

This study tests a new blood test that looks for severe genetic diseases in unborn babies using a sample from the mother. The test analyzes fetal DNA found in the mother's blood, which could avoid the need for invasive procedures like amniocentesis that carry a small risk of misc…

This study tests whether taking progesterone early in pregnancy can prevent preeclampsia, a condition that causes high blood pressure and organ damage. Over 600 low-risk pregnant women will either receive nightly vaginal progesterone or standard care. Researchers will track who d…

This phase 3 trial tests MK-8527, a once-monthly oral pill, to prevent HIV-1 infection in women. About 4580 HIV-negative women will take either MK-8527 monthly or a daily PrEP pill (Truvada) to see which works better and is safer. The goal is to offer a more convenient prevention…

This large phase 3 trial is testing whether a new oral pill called MK-8527, taken just once a month, can prevent HIV infection as well as the standard daily PrEP pill. About 4,390 people at risk of HIV will be randomly assigned to receive either the monthly pill or daily Truvada …

This study tests whether a nightly drop of low-dose atropine in both eyes can delay the start of nearsightedness in children aged 6–11 who are not yet nearsighted. Over 600 kids will be randomly assigned to get either the atropine drops or placebo drops for two years. The main go…

This study tests a new drug called AZD5148 to see if it can prevent repeat C. diff infections in adults. About 230 people will get either the drug or a placebo as a single injection. The goal is to stop the infection from coming back after standard treatment.

This study tests EXL01, a single strain of a beneficial gut bacterium (Faecalibacterium prausnitzii), to see if it can prevent repeat Clostridioides difficile infections in people at high risk. About 56 adults who have had at least two C. diff episodes will take EXL01 or a placeb…

This study tests a program called Grow with Grit, where school nurses screen children aged 8-12 in rural Montana for anxiety using a standard questionnaire. Children who show signs of anxiety receive a brief, 3-5 minute coping-skills session during a regular nurse visit, along wi…

This pilot study tests whether VM100, a nutritional supplement made from ten natural ingredients, can improve quality of life for people with Duchenne muscular dystrophy (DMD). About 20 participants aged 8 and older will take VM100 or a placebo for 10 weeks. Researchers will meas…

This study tests a drug called fezolinetant to see if it can reduce hot flashes in men with prostate cancer who are on hormone therapy (androgen deprivation therapy). About 60 men will take either the drug or a placebo daily for 4 weeks. Researchers will track hot flash frequency…

This Phase 3 trial tests whether fenfluramine (Fintepla) can reduce behavioral and emotional symptoms in people with Rett syndrome. About 200 participants will receive either the drug or a placebo for 14 weeks. The study measures changes in behavior, sleep, and overall condition …

This trial tests whether a depigmenting gel cream called Blancy Pro can reduce facial hyperpigmentation, including dark spots and melasma. Forty women aged 30 to 60 will apply the product daily for 90 days. Researchers will measure skin lightening using a colorimeter and clinical…

This study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…

This trial tests two ways to bring nature to older adults stuck in the hospital for weeks: watching 360-degree nature videos through a virtual reality headset, or listening to audio guides that prompt them to imagine the same scenes. Both approaches use identical nature themes—me…

This pilot study will test whether a mobile phone app can help reduce depression symptoms in African American adults. Eight participants will attend six weekly 90-minute classes through the app and complete surveys over four months. The goal is to see if this approach is effectiv…

This study tests an investigational drug called CSL889 in 70 adults and adolescents with sickle cell disease who are having a painful vaso-occlusive crisis. The goal is to see if the drug can safely shorten the crisis and reduce the need for strong pain medicines. Participants wi…

This small pilot study tests a special standing desk that gently moves, prompting people with Parkinson's to take small steps while standing. Five participants will use the desk for up to 12 sessions over 6 weeks. Researchers will measure walking speed, motor symptoms, and thinki…

This study compares two brain-training programs for adults with ME/CFS who experience brain fog. Both programs include computer games and a mild nerve stimulation device, but one focuses on processing speed and daily tasks while the other emphasizes relaxation and healthy habits.…

This trial tests a structured, 8-session program designed to help adults who stutter feel less anxious and more confident in job interviews. The program uses techniques like cognitive restructuring, voluntary stuttering, and simulated interviews to gradually reduce fear of negati…

This trial tests whether a group balance training program called Sport4Steadiness (S4S) is acceptable and feasible for people with COPD who have balance problems or fear of falling. The program adapts sports and games into fun balance exercises, held twice a week for six weeks. R…

This study tests a cream called roflumilast 0.15% for itching in people with mild to moderate atopic dermatitis (eczema). About 40 participants aged 12 and older will apply the cream once daily for 4 weeks. Researchers will track how patients describe their itch and other skin se…

This study tests whether a noninvasive brain stimulation device, used at home under remote supervision, can improve motor symptoms like stiffness, slowness, and walking difficulty in people with Parkinson's disease. 68 participants with mild-to-moderate Parkinson's will receive e…

This study tests whether psilocybin (the active ingredient in magic mushrooms) combined with therapy can help reduce depression, anxiety, and stress in adults whose parents survived genocide. One hundred participants will receive a single 25mg dose under supervision, followed by …

This trial tests whether a structured talk therapy called ConquerFear can help people with advanced cancer manage their fear of the disease progressing. It compares ConquerFear to a supportive-expressive approach, which focuses on emotional expression and support. The study invol…

This clinical trial tests whether safinamide, an add-on medication, can reduce chronic pain in people with Parkinson's disease who also experience motor fluctuations. About 60 adults with Parkinson's and pain lasting over three months will receive either safinamide or a placebo f…

This study is testing whether a specially designed amino acid supplement can improve nutrition, reduce oxidative stress, and boost physical and mental health in people with Parkinson's disease. Thirty adults aged 60-80 with Parkinson's will take either the supplement or a placebo…

This trial tests whether a dietary supplement called MILAMEND Hormone Balance can improve quality of life and hormonal health in women aged 18-40 who have PCOS or likely have it. Participants take the supplement or a placebo daily for several months, tracking their menstrual cycl…

This study tests whether a structured nursing program—including patient education, emotional support, and clear communication—can help men feel more resilient and less anxious when undergoing a transrectal prostate biopsy. Around 120 men scheduled for the procedure will receive t…

This study tests a gel called TCP-25 on people with epidermolysis bullosa (EB), a condition that causes fragile skin and painful blisters. About 32 people aged 4 and older with certain types of EB will have two matching wounds treated—one with the study gel and one with a placebo…

This study tests whether low-intensity focused ultrasound (LIFU), a gentle sound wave technique, can safely improve speech fluency in people who stutter. Twenty adults who stutter will receive LIFU or a sham treatment, and researchers will measure changes in stuttering severity a…

This trial tests whether closed kinetic chain exercises or Thrower's Ten exercises better reduce pain, improve mobility, and boost performance in young male bowlers with shoulder instability. Participants will follow a six-week program. The goal is to find which approach offers b…

This study tests whether psilocybin, the active ingredient in magic mushrooms, combined with talk therapy can safely help cancer survivors with depression or anxiety. Twenty adults who have finished cancer treatment and have no brain involvement will receive a single dose of psil…

This study looks at whether acupuncture can reduce pain in people with sickle cell disease. Researchers will also use brain scans and other tests to understand how acupuncture works. The study involves 120 participants aged 14 to 80 who have chronic pain or recent pain crises.

This study tests a new drug called RR-HNK (related to ketamine) to see if it safely reduces obsessive-compulsive disorder (OCD) symptoms. About 45 adults with OCD who haven't improved with standard treatments will receive two doses of the drug or a placebo. The main goal is to me…

This study tests whether closely watching jaw movement and starting physical therapy early can prevent or reduce trismus (jaw tightness) in people receiving radiation for head and neck cancer. Thirty adults will be checked weekly during treatment and given jaw exercises if their …

This study tests whether a special chair that delivers high-intensity electromagnetic stimulation can improve bowel leakage (fecal incontinence) and quality of life in people who have a J-pouch after surgery for ulcerative colitis. Participants will sit on the Emsella chair for 2…

This trial explores whether a non-invasive device that delivers mild electrical stimulation to the head can help reduce anxiety before meals in adults hospitalized for eating disorders. Participants will use the Alpha-Stim AID device for 20-minute sessions before breakfast, lunch…

This study tests whether watching nature-themed videos through virtual reality glasses can reduce anxiety and distress in pregnant women hospitalized with premature rupture of membranes. 176 women will either receive standard care or watch calming nature videos twice a day for th…

This study tests whether a non-invasive brain stimulation technique called rTMS can improve symptoms of major depression and chronic pain at the same time. Fifty-four adults with moderate depression and pain will receive 30 sessions of active rTMS over several weeks. Researchers …

This study tests an experimental drug called AP-472 in people with Parkinson's disease who have motor fluctuations—times when their usual levodopa medication stops working well. About 150 participants will take either a low dose, a high dose, or a placebo pill for 8 weeks, added …

This trial tests whether watching cartoons or squeezing a stress ball can reduce fear, anxiety, and pain in children aged 4-10 during allergy skin testing. Ninety children will be randomly assigned to one of three groups: cartoon-watching, stress ball use, or routine care. Resear…

This study is testing SL-APO (Kynmobi), a fast-acting film placed under the tongue, to treat OFF episodes in people with Parkinson's disease. OFF episodes are times when Parkinson's symptoms return between medication doses. The study will enroll 90 adults and observe how doctors …

This study tests a new software called Motion Reset that may prevent or reduce cybersickness—symptoms like nausea, dizziness, and headache—when using virtual reality. Healthy adults aged 18 to 60 will try different VR experiences and then play a commercial VR game while reporting…

This study tests whether a specialized speech therapy that focuses on word meanings can help people with mild-to-moderate semantic aphasia—a condition where brain damage impairs understanding and use of words. Participants first undergo a control period of standard language exerc…

This study tests whether cycling while using a virtual park app can slow the loss of motor function in children and teens with neuromuscular diseases like muscular dystrophy. Twenty-two participants will first receive standard care for 3 months, then use the virtual park bike 3 t…

This study tests whether applying Mastisol, a liquid adhesive, during clubfoot casting helps babies with clubfeet get better faster and with fewer problems. Researchers will compare outcomes like how many weeks of casting are needed and how often complications like sores or swell…

This early-stage study at Johns Hopkins is testing whether cannabidiol (CBD) can reduce stress and nicotine withdrawal symptoms in people who smoke. Ninety healthy smokers will receive CBD and then be exposed to stress while researchers measure their mood, heart rate, and stress …

This study tests a new medicine called ORKA-002 for adults with moderate-to-severe plaque psoriasis. About 160 participants will receive either the drug or a placebo to see if it clears skin and is safe. The goal is to find the best dose and check for side effects over 16 weeks.

This study tests an online wellness course that teaches diet, exercise, stress reduction, and self-care to people with rheumatoid arthritis, lupus, Sjogren's syndrome, and similar conditions. Researchers want to see if the program reduces fatigue and improves quality of life. Abo…

This phase 2a trial tests an oral liquid containing low-dose carbon monoxide (HBI-002) in 36 people with Parkinson's disease. Participants take it daily for 14 days to see if it is safe and tolerable. The study is randomized and placebo-controlled, meaning some get the drug and s…

This natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…

This study follows 500 people with geographic atrophy, an advanced form of age-related macular degeneration that causes permanent vision loss. Participants receive avacincaptad pegol (IZERVAY) as part of their routine care. Researchers will collect data on treatment patterns, sid…

This study is collecting long-term safety and effectiveness data on treatments for various blood disorders, including hemophilia, sickle cell disease, and clotting disorders. It aims to enroll 3000 people of any age with these conditions. Researchers will monitor side effects, co…

This study aims to understand what happens in the brain when someone thinks about or attempts suicide. Researchers will use brain scans, sleep monitoring, blood tests, and questionnaires to compare four groups: people with recent suicidal thoughts or attempts, those with past sui…

This study aims to find the genetic causes of severe combined immunodeficiency (SCID), a rare condition where the immune system doesn't work properly. Researchers will collect blood samples from 100 patients and their relatives to analyze DNA and other factors. The goal is to bet…

This large observational study in Mali is following up to 15,000 pregnant women and children to understand why some get malaria and others don't. Researchers are looking at immune responses, parasite features, and other factors that influence infection and disease severity. The g…

This study is creating the first large database for Niemann-Pick type C (NPC), a rare disease that damages the brain, liver, and spleen. Researchers will collect blood samples and medical records from 100 people with NPC to link their genes with their symptoms. The goal is to und…

This study looks at the tiny organisms living on our skin—like bacteria and fungi—and how they might differ in people with eczema (atopic dermatitis). Researchers will collect skin samples from healthy volunteers and patients aged 2 to 40 with moderate to severe eczema, as well a…

This study looks at a rare inherited condition called Birt-Hogg-Dube (BHD) syndrome, which raises the risk of kidney cancer. Researchers will collect blood, saliva, and tissue samples from up to 950 participants to find the genes involved and understand how kidney tumors grow. Th…

This study aims to learn more about the genetics and natural history of autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients, their relatives, and healthy volunteers. Participants provide blood and …

This study looks at how the brains of children with anxiety disorders work differently from healthy children. Researchers will use brain scans and thinking tasks to track changes over a year, before and after standard treatments like therapy or medication. The goal is to find pat…

This study aims to improve how doctors find and understand pheochromocytomas and paragangliomas, rare tumors that can cause dangerous high blood pressure. Researchers will use advanced imaging scans and genetic testing in up to 3,000 participants to learn more about these tumors.…

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

This study aims to understand the genetic causes of brain development disorders, including Aicardi syndrome, polymicrogyria, and Dandy-Walker malformation. Researchers will analyze genetic data from 2000 participants with these conditions, all confirmed by MRI. The goal is to use…

This study follows people of all ages who have or may have a RUNX1 gene variant, which can cause bleeding problems and increase the risk of blood cancers. Researchers will collect medical history, blood samples, and bone marrow over many years to understand how the condition deve…

This study uses special PET scans to measure inflammation in the brains of people with Alzheimer's, Parkinson's, ALS, and other neurodegenerative diseases. Researchers will compare these scans to those from healthy volunteers to see if inflammation levels differ. The goal is to d…

This study looks at whether certain genes make some people more likely to develop eye damage from the drug Plaquenil, which is used for autoimmune diseases like lupus and rheumatoid arthritis. Researchers will compare people who have had eye damage from Plaquenil with those who h…

This study collects skin, hair, blood, urine, or saliva samples from people with certain eye diseases (like macular degeneration) and from healthy volunteers. Researchers will turn these samples into stem cells in the lab to study how the diseases develop and to test potential ne…

This study at the National Institutes of Health looks at how infections can worsen symptoms in people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exam…

This study collects tissue and blood samples from adults with HIV, other immune disorders, or cancers thought to be caused by viruses. Researchers will compare genes in cancer tissue to normal tissue to find genetic changes that drive these cancers. The goal is to better understa…

This study looks at people with unusual or repeated infections and their family members to find the genetic and biochemical causes of immune system problems. Researchers will collect blood, saliva, urine, and other samples over time to better understand these conditions. The goal…

This study aims to understand the causes and progression of Common Variable Immunodeficiency (CVID) and related inborn errors of immunity. Researchers will observe up to 500 patients over time using blood tests, imaging, and other exams. The goal is to find better ways to diagnos…

This study aims to learn more about childhood-onset behavioral, psychiatric, and developmental disorders by observing people of all ages who have these conditions, along with their family members. Researchers will collect medical histories, perform psychiatric assessments, and ma…

This study is testing whether wearable devices like smartwatches can accurately track movement problems in people with Huntington's disease. About 100 participants, including those with Huntington's and healthy volunteers, will wear sensors and complete surveys and interviews at …

This study aims to uncover the genetic causes of pituitary and hypothalamic tumors in children. Researchers will collect blood and tumor samples from up to 2,000 participants to analyze DNA and look for inherited patterns. The study also trains doctors and tests new MRI technique…

This study follows 2,800 unpaid caregivers of people with chronic conditions like diabetes or inherited disorders. Researchers will survey and interview caregivers over up to 5 years to track changes in their health, stress, and social support. The goal is to understand how careg…

This study aims to understand the genetic and biological causes of Proteus syndrome, a rare condition causing abnormal growth of bones, skin, and other tissues. Researchers will follow up to 1,500 participants over time, using medical exams, imaging, and blood tests to track how …

This study follows up to 500 people with polyostotic fibrous dysplasia or McCune-Albright syndrome to learn how these conditions change over time. Researchers will collect medical data and tissue samples to better understand the disease. The goal is to improve future diagnosis an…

This study collects biological samples like blood, saliva, and urine from 300 adults aged 18-70, both with and without blood disorders such as sickle cell disease and thalassemia. The goal is to use these samples for research to better understand these conditions and related dise…

This study aims to learn more about heart and blood vessel diseases by observing people who have them or are at risk. Researchers will collect samples and perform tests like imaging and stress tests on up to 5,000 participants, including healthy volunteers and relatives of affect…

This study looks at how common certain antibodies and inflammatory markers are in people with chronic granulomatous disease (CGD). Researchers will measure levels of adenovirus-fighting antibodies and inflammatory cytokines in blood samples from 60 adults and children with CGD. T…

This study enrolls people with endocrine tumors (such as thyroid, parathyroid, adrenal, or pancreatic tumors) who are scheduled for surgery or biopsy. Researchers collect samples of the tumor, nearby healthy tissue, blood, and urine to analyze genetic and molecular changes. The g…

This study follows 400 people aged 6 and older who have a rare stomach cancer called GIST. Researchers will collect tumor tissue during surgery and study it in the lab to learn more about the disease. Participants are monitored every 6 to 12 months for up to 10 years before surge…

This study looks at anxiety related to cancer screenings in adults with Fanconi anemia, a rare condition that raises cancer risk. Researchers will observe 20 participants during their regular screening visits, noting body language, worries, and the clinic environment. No treatmen…

This study aims to find genetic causes of rare diseases in children aged 2 to 18 who live outside the United States and have limited access to genetic testing. Researchers will collect blood, saliva, or cheek swab samples from affected children and their family members. The goal …

This study aims to understand why some people are more prone to fungal infections, especially from Candida yeast. Researchers will collect blood, saliva, urine, and tissue samples from people with immune disorders, their family members, and healthy volunteers. No treatment is giv…

This study aims to understand how genetics and environmental factors contribute to melanoma, a serious skin cancer. Researchers will enroll up to 3,000 people with a personal or family history of melanoma or related conditions. Participants will fill out questionnaires, provide b…

This study collects blood, urine, saliva, and tissue samples from nearly 6,000 people who have or may have cancer, including rare inherited forms. The samples are stored and used for research to understand the genetic and molecular basis of cancer. No new treatment is being teste…

This study collects blood, bone marrow, and tumor samples from 500 adults with cancer or pre-cancerous conditions. Researchers will use these samples to learn more about how cancers behave and why some respond differently to treatments. Participants provide samples over time and …

This study aims to uncover genetic changes that cause autoimmune diseases in people native to Peru. Researchers will collect blood, urine, and stool samples from 300 participants, including patients with conditions like lupus and rheumatoid arthritis, their family members, and he…

This study follows up to 3,500 people with sickle cell disease to learn more about how the condition progresses and what complications arise. Participants receive their usual medical care outside the hospital and visit the clinic for check-ups and research tests. No experimental …

This study follows 600 people with GATA2 deficiency, a genetic disorder affecting the immune system and other body systems. Researchers aim to understand the full range of health problems it causes and why it affects people differently. Participants will have yearly check-ups for…

This study follows up to 30 children (up to age 16) with a rare genetic condition called methylmalonic acidemia (MMA), which affects how the body processes food. The goal is to observe how the disease progresses over time by tracking specific blood tests and health signs. This in…

This study collects blood stem cells and immune cells from healthy volunteers and patients with primary immune deficiencies or blood disorders. The cells are used in the lab to develop new gene and cell therapies. Up to 850 adults aged 18-70 will participate. The goal is to advan…

This study aims to understand what causes primary sclerosing cholangitis (PSC), a rare chronic liver disease. About 143 adults with PSC will provide blood, saliva, urine, stool, and tissue samples, plus undergo imaging and procedures like colonoscopy and liver biopsy. No treatmen…

This study aims to collect information and bone samples from up to 1,000 people with bone or mineral disorders, such as tumor-induced osteomalacia or familial tumoral calcinosis. Participants receive standard medical evaluations and may provide bone tissue from surgery or a biops…

This study looks at how differences in the PKLR gene might change sickle cell disease symptoms. Researchers will collect blood samples from 800 adults of African descent, with and without sickle cell disease, to measure certain proteins and energy molecules in red blood cells. Th…

This study aims to learn more about primary immunodeficiency disorders (PIDs), which weaken the immune system and make people more prone to infections. Researchers will compare genetic and health data from people with PIDs, their healthy relatives, and healthy volunteers to find …

This study collects wisdom teeth and surrounding tissue that are normally thrown away after oral surgery. Researchers will use these samples to learn more about oral health and disease. Up to 3,000 people aged 16 to 50 who need their wisdom teeth removed can join. The study also …

This study follows 950 people with idiopathic CD4+ lymphocytopenia (ICL), a rare condition where low CD4+ white blood cells raise infection risk. Researchers will track participants for up to 10 years, collecting medical history, blood samples, and infection data. The goal is to …

This study looks at whether fungi moving from the gut into the blood can cause inflammation and worsen lung function in people with HIV. Researchers will measure a fungal marker called BDG in blood and urine, and track lung health over three years. The goal is to better understan…

This study is watching for side effects in 50 children in India who are prescribed somatrogon, a long-acting growth hormone injection for growth hormone deficiency. The goal is to see how safe the drug is during routine care over 3 years. Participants do not have to visit the cli…

This study looks at whether freezing ovarian tissue can help preserve fertility in people aged 2-21 with conditions like Turner syndrome, galactosemia, or premature ovarian insufficiency. Participants may have surgery to remove and freeze a gonad, with a small piece used for rese…

This study looks at how medium-chain and long-chain fatty acids affect metabolism in people with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and healthy individuals. Researchers will measure ketone bodies, resting metabolic rate, and other factors after participants co…

This study looks at whether liver function and blood clotting tests can help doctors better understand and monitor cardiac transthyretin amyloidosis (ATTR-CA), a condition where abnormal protein builds up in the heart. Researchers will compare these tests in people with ATTR-CA a…

This study aims to understand why bones weaken with age, leading to conditions like osteoporosis and osteoarthritis. Researchers will collect bone waste and blood samples from 2,000 people undergoing orthopedic surgery, including those with and without bone disease. By analyzing …

This study looks at why some active young adults have trouble breathing during exercise due to their vocal cords closing when they shouldn't. Researchers will use a small wearable device on the neck, treadmill tests, and MRI scans to measure breathing patterns and vocal cord move…

This study tests whether simple reminders—called nudges—sent to doctors and patients can increase the use of genetic testing for people with certain conditions like Parkinson's disease, ALS, or heart problems. The trial will compare different ways of prompting genetic testing, su…

This study is developing questionnaires to measure how visible tumors in neurofibromatosis type 1 (NF1) affect patients' appearance concerns. About 110 participants, including children, adults, and caregivers, will complete surveys and join focus groups or interviews to give feed…

This study investigates how Fabry disease damages the kidneys over time, even before routine tests show problems. Researchers will examine kidney biopsies and function in 50 patients, some of whom receive enzyme replacement therapy. They aim to see if starting treatment earlier o…

This study looks at the long-term health of people who were cured of Cushing disease before age 21. Researchers want to understand how past high cortisol levels affect the body and mind years later. Participants will complete surveys and have check-ups every 5 years. The goal is …

This study follows 75 people aged 6 months or older with congenital myasthenic syndromes (CMS), a group of inherited disorders that weaken communication between nerves and muscles. Over up to 7 visits in 5 years, researchers will use physical exams, heart and lung tests, MRIs, an…

This study is testing whether a blood test measuring a protein called LRG can tell if the gut lining has healed in people with ulcerative colitis. Researchers will compare blood LRG levels with colonoscopy and tissue samples in 100 patients. If the blood test works, it could offe…

This study uses advanced MRI (3T fMRI) to look at brain activity in people who have or will have deep brain stimulation (DBS) implants. DBS is a treatment for conditions like Parkinson's disease, tremor, and obsessive-compulsive disorder. The researchers will scan participants un…

This study aims to understand brain changes in people with mild cognitive impairment (MCI) and Alzheimer's disease. Researchers will use MRI, EEG, cognitive tests, and blood and stool samples to find differences between healthy individuals and those with cognitive impairment. The…

This study compares two surgical systems used for combined cataract and vitrectomy eye surgeries. The UNITY VCS system is being tested against the CONSTELLATION system to see which one surgeons find more efficient in real-world operating rooms. About 180 adults needing combined e…

This study watches over 3,000 adults with moderate-to-severe lupus to see if the drug anifrolumab increases the risk of serious infections or cancer compared to standard treatments. No new medicine is given—researchers simply analyze health records from people already prescribed …

This study is observing up to 3,500 people with immune system problems, including rare genetic conditions like chronic granulomatous disease and severe combined immunodeficiency. Researchers will track how these diseases change over time through blood tests, imaging, and checkups…

This study follows families with a history of inherited kidney cancer to learn more about the disease's genetic causes and how it progresses. Researchers will collect blood, tissue, and urine samples from affected individuals and their relatives. The goal is to identify new genes…

This observational study is looking at men with spinal and bulbar muscular atrophy (SBMA), a rare inherited disease that causes gradual muscle weakness. Researchers will track changes in muscle strength, imaging scans, and blood or spinal fluid markers over two years. The goal is…

This study aims to learn more about RASopathies, a group of genetic conditions that can cause developmental issues, birth defects, and increased cancer risk. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for…

This study aims to find the genetic causes of inherited immune problems that affect white blood cells called lymphocytes. Researchers will review medical records and collect blood samples from up to 5,000 people with suspected immune disorders, as well as their relatives. The goa…

This study is gathering medical information and samples from up to 5,000 people with neurosurgical conditions like brain tumors, epilepsy, and Parkinson's disease. Participants receive standard care while their data is collected for future research. No new treatments are being te…

This study is checking if a computer model can accurately predict why some people have a prolonged blood clotting time (APTT). The model uses data from routine blood tests to tell if the cause is harmless or a sign of a clotting disorder. Researchers will test it on 1,500 patient…

This international observational study will follow 50,000 people with Alzheimer's disease or related dementias for many years. Researchers will collect real-world data from routine doctor visits to track how the disease progresses and how treatments are used and tolerated. The go…

This study aims to understand where HIV hides in the body when people stop their daily antiretroviral therapy (ART) for a short time. Fifty adults with HIV will either stay on ART or pause it for up to 90 days. Researchers will use PET/CT scans and take small tissue samples from …

This study aims to learn more about how HIV infects cells and affects the immune system by collecting blood samples from up to 2,419 adults, both with and without HIV. Researchers will analyze these samples to compare genetic and protein differences. The goal is to better underst…

This study follows 300 adults aged 30 and older who have or may have a BAP1 gene mutation, which raises the risk for mesothelioma and other cancers. Researchers will use advanced CT scans, blood tests, and minimally invasive camera procedures to look for early signs of cancer. Pa…

This study explores whether dream yoga practices can improve sleep and reduce anxiety. About 70 healthy adults with mild anxiety will learn techniques using virtual reality and home sleep monitors. The goal is to understand how these practices affect brain activity and dreaming, …

This study will follow 693 people in Brazil with severe or very severe COPD to track how often they are hospitalized, have flare-ups, or die. Researchers want to understand the real-world impact of the disease in this group. No new treatments are being tested—only data is collect…

This study aims to find biological markers in spinal fluid and blood that could signal the start of prion disease before symptoms appear. Researchers will follow 150 people who carry a genetic mutation for prion disease, along with family members and healthy volunteers. Participa…

This study follows 1,500 people with Epstein-Barr virus-positive T/NK-cell lymphoproliferative diseases — rare conditions where the virus drives abnormal immune cell growth. Researchers will collect medical history, treatment details, and blood samples to see how the diseases beh…

This study is testing whether low-intensity focused ultrasound (LIFUS) can safely change brain activity in people with conditions like Parkinson's disease, essential tremor, epilepsy, or substance abuse. Researchers will use brain recordings and movement tests to see if the ultra…

This study follows 650 people aged 8 to 99 with androgen insensitivity syndrome (AIS) to better understand their long-term health. Researchers will track hormones, bone density, heart health, metabolism, and tumor risk through regular check-ups and scans. No treatments are being …

This study screens 360 adults with neurodegenerative disorders like ALS, frontotemporal dementia, and progressive supranuclear palsy. Researchers will use medical history, physical exams, memory tests, movement analysis, MRI scans, and other tests to find common features and diff…

This study asks whether the way streets look can change how children see and feel. Researchers will use virtual reality to show children aged 6 to 18 different street scenes and track their eye movements and emotional responses. The goal is to find out which street features matte…

This early-stage trial is testing how the experimental drug repinatrabit interacts with several common medications, including birth control pills, metformin, and methotrexate. The study involves 48 healthy volunteers and will measure drug levels in the blood to see if combining t…

This study uses a special PET scan tracer called DPA-714 to measure brain inflammation in people with Parkinson's disease compared to healthy volunteers. Researchers want to see if Parkinson's patients have higher levels of inflammation and how that relates to their symptoms. The…

This study will test 60 adults with bronchiectasis (a chronic lung condition) to see if they have an undiagnosed genetic disorder called primary ciliary dyskinesia (PCD). Researchers will measure nitric oxide in the nose and examine tiny hair-like cells from a nasal swab under a …

This study will enroll 5,000 adults with chronic heart conditions like heart failure, high blood pressure, or aortic stenosis. Participants will wear a Prolaio digital health patch that monitors heart rate, breathing, and other vital signs. The goal is to observe how these condit…

This study tests whether a wearable Holter monitor can detect early signs of fainting in people with orthostatic hypotension or reflex syncope. Forty adults who have already had a tilt-table test will wear the monitor for up to 21 days. The goal is to see if the device can pick u…

This study is a disease registry that will collect information from 200 people in Egypt who have neurofibromatosis type 1 (NF1), a genetic condition that causes tumors to grow on nerves. The goal is to understand how the disease progresses over time, what treatments patients rece…

This study investigates the biological mechanisms behind young-onset Parkinson's disease, which begins before age 50. Researchers will analyze genetic tests and protein markers in spinal fluid and skin biopsies from 250 participants to identify distinct disease subtypes. The goal…

This study aims to find how common the KIT D816V mutation is in people with suspected clonal mast cell disease. Researchers will collect blood samples from 450 participants and test them using two sensitive methods. The results may improve understanding and diagnosis of these rar…

This early-stage study is testing an inhaled drug called RB042 for the first time in humans. Researchers want to see if it is safe and how the body handles it. The study includes 90 healthy adults, some of whom are smokers. Participants will receive either RB042 or a placebo thro…

This study is building a registry of medical information from people with inflammatory bowel disease (IBD), including Crohn's disease and ulcerative colitis. The goal is to use this data to better understand how IBD develops and progresses, which could help improve future treatme…

This study looks at how the body processes repinatrabit (JNT-517), an oral tablet for phenylketonuria, in people with moderate liver impairment or severe kidney impairment. It compares these results to those from healthy volunteers of similar age, weight, and sex. The goal is to …

This study looks at how leishmaniasis infections progress and respond to treatment. It involves up to 289 people aged 3 to 100 with known or suspected leishmaniasis. Researchers will collect blood and tissue samples to learn more about the disease and test different treatments. T…

This international study aims to collect genetic and health information from 1,500 people with rare inherited retinal diseases like retinitis pigmentosa. It has two parts: a registry to gather genetic and vision data, and a natural history study that follows participants over tim…

This study investigates whether people who had carpal tunnel surgery might have a higher chance of having ATTR amyloidosis, a condition where abnormal proteins build up in tissues, potentially affecting the heart. Researchers will biopsy tissue from about 180 patients who had car…

This study follows about 50 boys under 18 with X-linked myotubular myopathy (XLMTM), a rare genetic muscle condition, to see how often they develop liver problems like cholestasis. No drugs are given—researchers simply collect health data, including liver scans, over one year. Th…

This study investigates whether a blood marker called anti-Müllerian hormone (AMH) can predict future infertility in children and adolescents who have undergone cancer treatment. Many young patients recover normal menstrual cycles or puberty after chemotherapy, but their ovarian …

This study uses a special PET scan tracer called [18F]DPA-714 to measure brain inflammation in people with early or suspected Parkinson's disease and in healthy volunteers. Researchers will scan participants at the start, after 12 months, and after 24 months to see how inflammati…

This observational study is gathering medical and genetic information from up to 1,250 people with known or suspected genetic conditions, as well as their relatives. Researchers will use advanced data analysis to find new insights into how genes cause disease. Participants may pr…

This study looks at gene changes that might cause low blood cell counts (cytopenia) in people with multiple myeloma or certain lymphomas after CAR-T therapy. About one-third of patients have low blood counts lasting more than 30 days after treatment. Researchers will test blood a…

This study is for people aged 3 and older with neurofibromatosis type 1 (NF1), a genetic condition that often causes noncancerous nerve tumors. About half of people with NF1 get these tumors, and sometimes they turn cancerous. Researchers want to test a new method to predict whic…

This study aims to create a large library of recorded endoscopy procedures from adults undergoing upper or lower gastrointestinal exams. The goal is to use these videos to develop and validate artificial intelligence tools that can automatically detect and report quality metrics,…

This study looks at whether people with non-celiac wheat sensitivity (NCWS) have a higher chance of having fatty liver or liver scarring. Researchers will compare liver health in people with NCWS to those with irritable bowel syndrome, functional dyspepsia, and celiac disease. Th…

This study follows children with congenital or childhood myotonic dystrophy over time to see how their symptoms change. Researchers will test a range of assessments, from walking speed and hand strength to language and quality of life, to find the best ways to measure the disease…

This study follows people with inherited BAP1 gene mutations, which raise the risk of mesothelioma and other cancers. Researchers will track participants over many years, collecting medical history, blood samples, and scans to understand how these mutations lead to cancer. The go…

This study looks at adults with sickle cell disease to see how their heart, brain, kidneys, liver, and lungs change after treatments meant to cure the disease. Researchers will compare people getting curative therapy (like a bone marrow transplant or gene therapy) with those who …

This study collects blood and urine samples from 200 adults with glioblastoma (a type of brain tumor) who are receiving radiation therapy. Researchers want to see if levels of two proteins, VEGF and MMP, can predict whether the tumor will come back within one year. The goal is to…

This study is testing whether taking estrogen pills (estradiol valerate or ethinylestradiol) can safely trigger the release of oxytocin, a hormone important for social bonding and childbirth. Researchers will measure oxytocin levels in 28 healthy volunteers and patients with AVP …

This study follows 30 people with Gaucher disease who are receiving standard medical care to better understand how the condition affects the lungs, bones, and nervous system over time. Researchers will track changes in breathing, bone density, and neurological signs, along with b…

This study asks children aged 6-16, their parents, and clinicians to vote on the most important research topics in pediatric anesthesia and perioperative medicine. Over 1,000 participants in Switzerland will complete online surveys to create a ranked list of the top 10 priorities…

This study is building a large international registry of people with Wilson's disease, a rare genetic condition that causes copper to build up in the body. Researchers will collect data from routine clinic visits over several years to describe the natural course of the disease in…

This study follows pregnant women with inflammatory bowel disease (IBD) and their children for up to four years after birth. Researchers want to see whether the mother's disease activity or use of immunosuppressant or biologic medications affects pregnancy outcomes or the child's…

This study aims to collect stem cells from people with a rare condition called idiopathic CD4 lymphocytopenia (ICL) and from healthy volunteers. Participants receive two medications to move stem cells from bone marrow into the blood, where they are collected. The stem cells are t…

This study is a pregnancy registry that gathers information from women with chronic neurological conditions like multiple sclerosis, NMOSD, and myasthenia gravis who are planning pregnancy, currently pregnant, or within one year postpartum. Participants can contribute blood, brea…

This observational study will analyze medical records from over 52,000 people with ATTR amyloidosis, a rare disease where abnormal proteins build up in organs. Researchers want to learn about patients' symptoms, treatments, and outcomes in everyday medical practice. No new treatm…

This study tracks 240 pregnant women with lupus who have taken anifrolumab (Saphnelo) to see if the drug affects pregnancy or baby health. Researchers will monitor for birth defects and other complications. The goal is to gather safety information, not to test a new treatment.

This study follows 1,500 children newly diagnosed with inflammatory bowel disease (IBD), including Crohn's disease and ulcerative colitis, to understand why some respond well to treatments while others develop complications. Researchers will collect medical data and biological sa…

This study aims to identify the genetic causes of rare, undiagnosed disorders by using genome sequencing. Researchers will analyze the DNA of up to 2,000 participants, including affected individuals and their family members. The goal is to discover new disease-causing genes and i…

This study looks at whether adding certain nutrients to blood cells from people with septic shock can help restore the cells' energy-making machinery (mitochondria). Researchers will collect blood samples from 55 patients in the ICU and test these nutrients in the lab. The goal i…

This study aims to understand how lymphangioleiomyomatosis (LAM) damages the lungs at the cellular and genetic level. Researchers will follow up to 2,000 participants, including women with LAM and healthy volunteers, using advanced imaging and lab tests. The goal is to find the p…

This study looks at why people with tuberous sclerosis, a rare genetic condition, develop non-cancerous skin tumors. Researchers will examine up to 400 adults, perform skin exams, and take small tissue samples (biopsies) from tumors. The goal is to identify the cells and genetic …

This study looks at patients who develop a condition called MRONJ (bone death in the jaw) after taking osteoporosis medications. When this happens around a dental implant, doctors disagree on whether to remove the implant or try to save it. The study will compare healing and bone…

This study will test a home-monitoring software called RespirAI in 30 adults with COPD who are at high risk for flare-ups. The app uses artificial intelligence to analyze health data and predict when a serious breathing attack might happen. Researchers will compare the app's pred…

This study provides ongoing check-ups for people who received a donor stem cell transplant at the NIH at least three years ago. Researchers will monitor for late side effects, disease return, and overall health. Participants will have yearly visits that may include blood tests, b…

This study is looking at whether advanced heart imaging, especially cardiac MRI, can help identify the cause of cardiomyopathy and predict risks like death or heart failure in a diverse group of patients. The research focuses on adults in the Bronx, including many from Hispanic a…

This study is testing whether a virtual reality (VR) tool can better measure how retinal disease affects a person's ability to move through spaces. About 165 people aged 5 and older with retinal disease and healthy volunteers will use a game controller to navigate VR obstacle cou…

This study looks at a type of immune cell called monocytes in people with certain blood cancers (polycythemia vera, essential thrombocythemia, and myelofibrosis). Researchers will analyze blood samples from 70 newly diagnosed patients to find unique patterns in these cells. The g…

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

This study is looking at whether brain imaging can help predict how people with Parkinson's disease and freezing of gait respond to deep brain stimulation (DBS). Researchers will scan the brains of 54 participants before and after DBS surgery, and track their walking, thinking, a…

This study aims to find out whether some women diagnosed with polycystic ovary syndrome (PCOS) actually have a rare genetic condition causing severe insulin resistance. Researchers will compare 25 women with a known LMNA gene mutation (linked to lipodystrophy) to 50 women with cl…