Autosomal genetic disease

Researchers are testing a stem cell transplant that uses low-dose radiation and two immune-suppressing drugs instead of high-dose chemotherapy. The goal is to cure severe sickle cell disease and beta-thalassemia in adults up to age 65 who have a matched sibling donor. Participant…

This trial tests a stem cell transplant method that uses lower doses of chemotherapy and radiation, aiming to reduce side effects while still replacing the faulty blood cells that cause sickle cell disease. Children and young adults up to age 25 with severe sickle cell disease ca…

This trial tests a modified stem cell transplant for people with severe sickle cell disease or beta-thalassemia who are at higher risk of transplant failure. The approach uses low-dose radiation and a mix of immunosuppressive drugs to help the body accept donor stem cells without…

This trial tests an experimental gene therapy called EA0010 in children aged 1 to 17 with hearing loss caused by mutations in the OTOF gene, who already have cochlear implants. The therapy is injected into one ear and aims to deliver a working copy of the OTOF gene to inner ear c…

This trial tests a gene therapy called ATSN-101, given as a one-time injection under the retina, for people with Leber congenital amaurosis caused by GUCY2D gene mutations. The goal is to see if the treatment is safe and can improve vision. Participants receive the therapy in one…

This trial tests a gene therapy called SENS-501 for children aged 6 to 31 months who are severely or profoundly deaf due to mutations in the otoferlin gene. The therapy is injected directly into one inner ear to deliver a working copy of the gene. The goal is to restore natural h…

This study tests a vaccine called Nous-209 in 45 people with Lynch syndrome, a genetic condition that raises the risk of colon and other cancers. The vaccine is made from man-made copies of proteins that cancer cells produce, aiming to teach the immune system to recognize and att…

This phase 2 study tests pembrolizumab (Keytruda) in 40 men with metastatic castration-resistant prostate cancer that has specific genetic flaws (mismatch repair deficiency or CDK12 inactivation). The goal is to see if the drug can shrink tumors or slow the cancer. Researchers wi…

This study tests a drug called selumetinib in children and young adults with low grade glioma that has come back or not responded to other treatments. The drug works by blocking certain enzymes that help tumor cells grow. The goal is to find the best dose and see if it can shrink…

This pilot study tests the safety and feasibility of empagliflozin (Jardiance) in 8 overweight or obese adults with cystic fibrosis-related diabetes (CFRD) who are already on insulin. Participants will receive either the drug or a placebo in a crossover design. The goal is to gat…

This study tests an experimental drug called VX-407 in 24 adults with autosomal dominant polycystic kidney disease (ADPKD) who have specific changes in the PKD1 gene. The goal is to see if the drug can slow kidney growth and is safe. Participants take VX-407 tablets by mouth and …

This Phase II trial tests whether combining lenvatinib and everolimus can shrink or slow advanced carcinoid tumors that cannot be removed by surgery. The study enrolls 36 adults with confirmed unresectable carcinoid tumors. Both drugs are taken orally and work by blocking enzymes…

This registry collects data on lung transplant patients whose donor lungs were preserved and transported using the LUNGguard or BAROguard devices. Researchers track outcomes such as primary graft dysfunction, rejection, survival, ICU and hospital stays, readmissions, and time on …

This study looks at how safe and effective the drug everolimus is for Taiwanese adults with tuberous sclerosis complex (TSC) who have kidney tumors called angiomyolipomas. Four participants will take the drug and be monitored for side effects and tumor shrinkage. The goal is to c…

This study tests a new medicine called PYC-001, given as an injection into the eye, for people with a genetic condition that damages the optic nerve (OPA1 optic atrophy). The main goal is to check if the treatment is safe and tolerable. About 18 adults will receive a single dose,…

This study tests a new medicine called ALN-6400 for people with hereditary hemorrhagic telangiectasia (HHT), a condition that causes abnormal blood vessels and frequent nosebleeds. First, healthy volunteers will receive a single dose to check safety. Then, HHT patients will recei…

This study tests a drug called selumetinib in children and young adults (ages 3-18) with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be removed by surgery. The goal is to see if the drug can shrink or slow the growth of these tumors. Participants take the dru…

This study tests an experimental drug called REGN5093 in people with advanced non-small cell lung cancer that has a specific change in the MET gene. The first part finds a safe dose, and the second part checks if the drug can shrink tumors. About 231 participants will take part.

This early-stage trial tests an experimental drug called BI 3000202 in 16 adults with rare type 1 interferonopathies, such as Aicardi-Goutières syndrome. Participants take a low dose for 4 weeks, then a higher dose for 36 weeks. The main goal is to see if the drug is safe and how…

This study tests a drug called selumetinib in adults with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be removed by surgery. The goal is to see if the drug can shrink these tumors or slow their growth. Participants take the drug twice daily and are monitored …

This study tests a new gene therapy for people with chronic granulomatous disease (CGD), a genetic disorder that weakens the immune system and makes them prone to serious infections. The treatment takes the patient's own blood stem cells, adds a missing gene in the lab, and puts …

This phase 3 study tests two doses of crizanlizumab against a placebo in 255 adolescents and adults with sickle cell disease who have frequent pain crises. The goal is to see if the drug can reduce the number of severe pain episodes that require a hospital or clinic visit. Partic…

This study will track 600 people in Korea with advanced breast cancer who are already being prescribed Talzenna. Researchers will watch for side effects and see how well the drug works in everyday medical practice, not in a strict research setting. The goal is to confirm the drug…

This trial is testing whether giving the immunotherapy drug pembrolizumab before surgery can improve outcomes for people with high-risk stage 2 or stage 3 colorectal cancer that has a specific genetic feature called mismatch repair deficiency. About 88 participants will receive p…

This study tests a special MRI technique that uses inhaled gas to create detailed images of lung function in people with cystic fibrosis. Researchers want to see how a new triple-combination therapy changes lung ventilation over time. The study involves 64 participants and aims t…

This trial is testing whether adding hydroxychloroquine to two targeted cancer drugs (dabrafenib and trametinib) can help children and young adults with certain brain tumors that have come back or not responded to treatment. The study includes patients with specific genetic chang…

This study tests a triple-combination drug (VX-121/TEZ/D-IVA) for people with cystic fibrosis, a genetic condition that affects the lungs and digestion. The goal is to see if the treatment is safe and works well over a long period. About 822 participants who completed earlier stu…

This study looks at the long-term safety and effectiveness of the drug combination Trikafta (elexacaftor/tezacaftor/ivacaftor) in people with cystic fibrosis who have certain non-F508del gene mutations. About 297 participants who completed a prior study will continue taking the m…

This study tests a drug called BBP-418 (Ribitol) in 81 people aged 12 to 60 with limb girdle muscular dystrophy type 2I (LGMD2I), a genetic condition that causes progressive muscle weakness. Participants receive either the drug or a placebo for 36 months to see if it slows the di…

Researchers are observing how elexacaftor/tezacaftor/ivacaftor triple combination therapy affects people with cystic fibrosis in routine care. The study follows two groups: children aged 6 to 11 and people aged 12 and older. Over seven years, they measure lung function, inflammat…

People with MEN1 syndrome inherit a high risk of developing multiple pancreatic neuroendocrine tumors. Surgery is the only curative option but causes major complications. Researchers are testing high-dose, high-precision MR-guided radiotherapy to see if it can shrink these tumors…

This early-stage trial tests an inhaled mRNA therapy called VX-522, combined with an existing drug (ivacaftor), in 26 adults with cystic fibrosis who have genetic mutations that do not respond to current modulator treatments. The main goals are to check safety and tolerability, a…

This study tests omaveloxolone, a drug already approved for adults with Friedreich's ataxia, in children aged 2 to 15. Researchers want to see how the drug moves through children's bodies and whether it is safe. The study involves two parts: a single dose followed by daily dosing…

This early-phase trial is testing whether the drug plerixafor can safely and effectively collect enough stem cells from people with sickle cell disease for a future gene therapy. Only 5 participants are enrolled, and the main goal is to check for side effects. If it works, it cou…

This study tests whether deep brain stimulation (DBS) can improve thinking and memory in people with early Alzheimer's disease. Two participants will have electrodes implanted in a brain area that produces a key chemical for memory. The goal is to see if daily, one-hour stimulati…

This study tests a new drug called Cetrelimab (JNJ-63723283) in 234 people with advanced solid tumors like lung, melanoma, bladder, and colorectal cancers. The drug works by blocking PD-1, a protein that stops the immune system from attacking cancer cells. The trial has two parts…

This trial tests the long-term safety of a drug called INZ-701 in people with rare genetic conditions that cause abnormal calcium buildup in the body. The study enrolls people who have already received INZ-701 in an earlier trial and want to continue treatment. Researchers will m…

This study follows 165 children who previously took dabrafenib and/or trametinib for certain brain tumors. Researchers want to see if these drugs are safe over the long term and how they affect growth. The children continue their treatment and are monitored for side effects and d…

This early study tests the safety of TheraSphere PCa, tiny radioactive glass beads injected into the prostate to treat localized prostate cancer. The trial involves 36 men with favorable intermediate-risk cancer and aims to find the maximum safe radiation dose. Researchers will m…

This study tests a single dose of a gene therapy called AB-1003 in 10 adults with a rare genetic muscle disease (LGMD2I/R9). The goal is to see if it is safe and can help improve muscle function. Participants must be able to walk or run 10 meters in under 30 seconds.

This study tests a gene therapy that modifies a patient's own blood stem cells to produce more fetal hemoglobin, a healthy type that prevents sickling. The goal is to reduce or eliminate severe pain crises in people with sickle cell disease. The treatment involves chemotherapy to…

This Phase 3 trial tests whether automated red cell exchange (a procedure that replaces a patient's sickled red blood cells with healthy donor cells) plus standard care can reduce hospital visits and deaths in adults with sickle cell disease at high risk. About 173 participants w…

This study looks at the long-term safety of everolimus in people with tuberous sclerosis complex (TSC) who have seizures that are hard to control. Participants are already taking everolimus and benefiting from it in an earlier study. The goal is to see if the drug remains safe an…

This study looks at whether taking selumetinib with a low-fat meal reduces stomach problems in teenagers with neurofibromatosis type 1 (NF1) who have tumors that cannot be removed by surgery. About 24 teens will take the drug under both fed and fasted conditions to compare drug l…

This Phase 2 trial tests whether tebapivat, an oral tablet, can improve anemia in people with sickle cell disease compared to a placebo. About 59 participants will take the drug or a dummy pill for several weeks. The main goal is to see if hemoglobin levels rise, which could mean…

This study follows people who previously received a one-time gene therapy injection for a rare inherited eye disease caused by RPE65 mutations. Researchers will test vision and light sensitivity over up to 15 years to see how well the treatment holds up. The goal is to understand…

This study is the first time the drug RCT2100 is being tested in humans. It aims to check the safety and tolerability of single and multiple doses in healthy adults and people with cystic fibrosis (CF). The trial will also see how the drug spreads in the body and gather early pro…

This study tests a drug called selumetinib in 32 Chinese children and adults with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be surgically removed. The goal is to check the drug's safety and how well it works at shrinking these tumors. Participants take the …

This phase II trial is testing whether a combination of talimogene laherparepvec (a modified herpes virus that infects and kills cancer cells) and nivolumab (an immunotherapy drug) can shrink tumors in people with rare skin cancers or lymphomas that haven't responded to standard …

This study compares a targeted drug called selumetinib to standard chemotherapy (carboplatin/vincristine) in children aged 2 to 21 with neurofibromatosis type 1 (NF1) and low-grade glioma, a type of brain tumor. The goal is to see if selumetinib works as well or better at control…

This study tests a granule (sprinkle) form of the drug selumetinib in children aged 1 to under 7 years who have neurofibromatosis type 1 (NF1) with painful, inoperable tumors. The goal is to find the right dose, check safety, and see if it shrinks tumors. About 36 children will t…

This study offers continued access to the drug mitapivat for adults with pyruvate kinase deficiency who completed an earlier Agios-sponsored trial and cannot get the drug commercially. Only 6 participants are enrolled, and the main goal is to monitor side effects. The study does …

This study follows 160 children and adults with beta-thalassemia or sickle cell disease who received a one-time treatment of their own CRISPR-edited stem cells (CTX001). The goal is to monitor long-term safety, including any new cancers or blood disorders, and to see how well the…

This study tests a new medicine called INZ-701 in babies up to 1 year old who have a rare genetic condition (ENPP1 deficiency) that causes severe hardening of the arteries and bone problems. The goal is to see if the drug can raise a key substance in the blood, improve survival, …

This study tests a new drug called INZ-701 in up to 16 infants (up to 1 year old) with rare genetic conditions (ENPP1 or ABCC6 deficiency) that cause dangerous calcium buildup in arteries and other problems. The main goal is to check the drug's safety and how the body handles it,…

This early-phase study tests a single IV dose of NGGT002 gene therapy in 15 adults with phenylketonuria (PKU), a genetic disorder that causes harmful buildup of phenylalanine. The main goal is to check safety over one year, with long-term follow-up for five years. Researchers wil…

This study explores whether regular aerobic exercise, specifically walking about 300 minutes per week, can change certain biomarkers in the blood that are linked to cancer risk. Participants are adults who have completed all cancer therapy and have either clonal hematopoiesis (a …

This phase 3 trial is testing whether adding the immunotherapy drug atezolizumab to standard chemotherapy can help prevent cancer from coming back in people with stage III colon cancer that has a specific DNA repair defect (dMMR). About 712 participants will receive either chemo …

This early-stage study tests whether a mix of three drugs—tacrolimus, nivolumab, and ipilimumab—can shrink or control certain skin cancers in people who have had a kidney transplant. The main goal is to see if the cancer responds without causing the body to reject the transplante…

This study tests an experimental drug called GSK4771261 for safety and how the body processes it. Part A involves healthy volunteers, and Part B includes people with autosomal dominant polycystic kidney disease (ADPKD), a genetic condition that causes kidney cysts and can lead to…

This early-phase trial tests a new way to prepare people with sickle cell disease for a stem cell transplant. Instead of full-body radiation, doctors use targeted radiation to the bone marrow and lymph nodes, along with drugs to prevent rejection and graft-versus-host disease. Th…

This study tests a new drug called encaleret against usual treatments for people with a rare genetic condition called autosomal dominant hypocalcemia type 1 (ADH1), which causes low blood calcium and high urine calcium. About 67 participants will receive either encaleret or stand…

This study follows 4 people with sickle cell disease who previously received a one-time treatment of their own gene-edited stem cells (OTQ923). Researchers are checking for delayed side effects, such as new cancers or blood disorders, and measuring how long fetal hemoglobin produ…

This trial tests whether giving the immunotherapy drug camrelizumab before surgery can help completely remove T4 colon cancers that have a specific genetic feature (dMMR). These cancers often don't respond well to standard chemotherapy. The study will enroll 18 adults who will re…

This study tests an injectable drug called pegvaliase in 55 teenagers (ages 12-17) with phenylketonuria (PKU) who have high blood Phe levels despite diet management. Half get the drug, half stick to diet only. The goal is to see if pegvaliase safely lowers Phe levels and reduces …

This study tests an experimental drug, BBP-418, in people with limb girdle muscular dystrophy type 2I (LGMD2I), a rare genetic condition that causes progressive muscle weakness. The drug aims to fix a molecular defect by helping a faulty enzyme work better. The trial includes bot…

This study tests a drug called trametinib in children with a rare blood cancer (juvenile myelomonocytic leukemia) that has returned or not responded to treatment. The drug works by blocking certain enzymes that help cancer cells grow. The goal is to see if it can shrink or contro…

This early-stage trial is testing the safety and potential benefit of pembrolizumab, an immunotherapy drug, in 71 children whose brain tumors (like DIPG, high-grade gliomas, or medulloblastoma) have come back or not responded to standard treatments. The drug works by helping the …

This phase 2 trial tests whether a daily pill called miransertib can slow or stop the abnormal tissue overgrowth seen in Proteus syndrome, a rare genetic condition. About 38 people aged 3 and older will take the drug for up to 4 years. Researchers will measure changes in foot ove…

This study tests a personalized medicine called an antisense oligonucleotide, designed specifically for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare genetic brain disorder. The treatment aims to reduce seizures and improve quality of life by targeting the …

This study tests a new drug called PMN310 in people with early Alzheimer's disease. The goal is to see if it is safe and if it can reduce signs of the disease in the brain. About 144 participants will receive multiple doses of the drug or a placebo. This is an early-phase trial, …

This study tests a program called PIXI that coaches parents of infants diagnosed with rare neurogenetic disorders (such as Fragile X, Angelman, or Down syndrome) during the first year of life. The program combines education about the disorder, guided parent-child interaction acti…

This trial tests a digital tool that helps doctors and patients manage cancer risks linked to hereditary syndromes like BRCA-related breast/ovarian cancer and Lynch syndrome. The tool provides personalized recommendations during primary care visits. Researchers compare care gaps,…

This study tests a drug called mirdametinib in 114 adults and children with a genetic condition called NF1 that causes nerve tumors (plexiform neurofibromas) that cannot be removed by surgery and cause serious problems. The drug works by blocking a protein that helps tumors grow.…

This study tests an experimental drug called ultevursen for people with retinitis pigmentosa caused by a specific gene mutation (USH2A). The drug is injected into the eye and may help slow vision loss. The trial involves 81 participants, some of whom will receive a sham (fake) in…

This study tests an experimental drug called THN391 in 15 people with early Alzheimer's disease who also have small vessel disease in the brain. Participants receive three monthly IV infusions of either THN391 or a placebo. The main goal is to check safety and how the drug behave…

This clinical trial tests a stem cell transplant using a milder conditioning regimen—without standard chemotherapy—to treat people with aggressive sickle cell disease who cannot take or have failed hydroxyurea therapy. The transplant uses stem cells from a matched sibling donor, …

This study looks at the long-term safety and tolerability of the drug mitapivat in adults with stable sickle cell disease. Participants, who previously benefited from mitapivat in an earlier study, take the drug twice daily for up to 48 weeks, with an option to continue for anoth…

This study looks at whether starting daily low-dose aspirin in the first trimester (weeks 1–12) is safer and more effective than starting in the second trimester (weeks 13–27) for pregnant women with sickle cell disease. Researchers will track maternal deaths, preterm births, and…

This Phase 2 trial tests a combination of pembrolizumab (Keytruda) and quavonlimab against other drug combos in 302 people with stage IV colorectal cancer that has a specific genetic feature (MSI-H or dMMR). The goal is to see if the new combo shrinks tumors better and for longer…

This study tests the long-term safety and effectiveness of an experimental drug called BBP-418 (ribitol) in people with limb-girdle muscular dystrophy type 2I/R9, a rare genetic muscle-weakening disease. Participants who completed a previous study will take BBP-418 orally twice d…

This study investigates whether combining the medication lovastatin with intensive reading tutoring can improve reading abilities in children and young adults (ages 8-20) with Neurofibromatosis Type 1 (NF1) who have reading disabilities. Participants first receive either lovastat…

This phase 3 trial tests a single dose of CTX001, a CRISPR-edited stem cell therapy, in 13 children with severe sickle cell disease who have not responded to standard treatments. The goal is to see if it can prevent severe pain crises for at least a year. Participants receive the…

This study tests a new oral solution called NPI-001 in people with cystinosis, a rare disease that causes cystine buildup in cells. Researchers want to see if NPI-001 is safe and works better than the current drug cysteamine. About 12 participants aged 10 and older will stop thei…

This study tests whether hydroxyurea, a drug already used for sickle cell disease in other parts of the world, is safe and effective for children with sickle cell anemia in Africa. Children aged 1 to 10 years receive daily doses of hydroxyurea, with careful monitoring for side ef…

This early-stage trial tests a single injection of ARO-ATXN2 in 36 adults with spinocerebellar ataxia type 2, a rare genetic disorder that affects movement and coordination. The main goal is to see if the drug is safe and how the body processes it. Participants are randomly assig…

This study compares a new three-drug combination (NABPLAGEM) against a standard two-drug chemo regimen for people with advanced pancreatic cancer that has spread and carries a BRCA or PALB2 gene mutation. The trial enrolls 10 participants whose cancer worsened after initial treat…

This study tests a drug called mitapivat in 286 people with sickle cell disease, ages 16 and older. The goal is to see if mitapivat can raise hemoglobin levels and reduce painful sickle cell crises compared to a placebo. The trial has two phases: first to find the best dose, then…

This trial tests a new drug called Cadonilimab in 28 people with advanced colorectal cancer that has not responded to standard immunotherapy. The drug is a bispecific antibody that targets two immune checkpoints (PD-1 and CTLA-4) to potentially reactivate the immune system agains…

This phase 3 trial tests whether the drug troriluzole can slow the progression of spinocerebellar ataxia, a rare genetic disorder that affects coordination and balance. About 300 adults with different types of SCA are randomly assigned to take either troriluzole or a placebo dail…

This study tests a stem cell transplant method for people with acquired or inherited bone marrow failure. Donor stem cells are specially processed to remove certain immune cells, which may lower the risk of graft rejection and graft-versus-host disease. The goal is to see if this…

This phase 3 trial tests whether an oral antioxidant called N-acetylcysteine (NAC) can slow the loss of vision in people with retinitis pigmentosa, an inherited eye disease that causes gradual blindness. About 485 adults aged 18 to 65 are taking NAC or a placebo for several years…

This early-stage study tests a combination of two drugs, avutometinib and defactinib, in children and young adults (ages 3 to 30) with advanced or recurrent solid tumors that have specific genetic changes. The main goal is to find the safest dose with the fewest side effects. The…

This study was designed to test two immunotherapy drugs, nivolumab and ipilimumab, in children and young adults with cancers that returned or didn't respond to treatment and had many genetic mutations. The goal was to see if the drug combination was safe and could shrink tumors. …

This study tests whether combining two immunotherapy drugs (nivolumab and ipilimumab) with radiation therapy can control or shrink tumors in people with colorectal or pancreatic cancer that has specific genetic features (MSS or MSI-high). About 84 adults with advanced disease are…

This study looks at whether a progestin contraceptive implant (Nexplanon) can reduce painful sickle cell crises and improve quality of life in women aged 18-45 with sickle cell disease. Twenty-two participants will use the implant for a period and report their pain episodes. The …

This study offers expanded access to a gene therapy for people with severe sickle cell disease. The treatment uses a modified virus to deliver genetic material that increases fetal hemoglobin, a healthy type that prevents sickling. Patients receive their own blood stem cells back…

This study looks at whether the drug troriluzole can slow the progression of spinocerebellar ataxia (SCA), a rare genetic disease that affects movement and balance. Researchers will compare 909 patients who took troriluzole for up to three years with similar patients who did not …

This phase 3 study is testing the long-term safety and effectiveness of the drug combination elexacaftor/tezacaftor/ivacaftor (known as Trikafta) in 50 people with cystic fibrosis who are at least 12 months old. Participants previously completed a related study and will continue …

This study tests a drug called CAM2029 (octreotide) given as a weekly or every-other-week shot to people with symptomatic polycystic liver disease. The goal is to see if it can shrink the liver and reduce symptoms like belly pain, bloating, and nausea. About 71 adults with an enl…

This study follows about 111 people with Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex who are taking Epidyolex (a CBD oral solution) for seizures. Researchers track how many stay on the drug for a year and how many seizure-free days they have. It's an o…

This phase 2 study tests a personalized immune cell therapy called tumor-infiltrating lymphocytes (TIL) in 20 people with advanced solid cancers (like stomach, colon, or pancreatic cancer) that have not responded to standard treatments. Patients first receive chemotherapy to prep…

This study tests whether a two-drug combination can help the immune system attack ovarian cancer that has returned after standard treatments. The drugs are E7777, which removes certain immune cells that block the body's defenses, and pembrolizumab, which reactivates cancer-fighti…

This study was designed to test whether the drug govorestat could improve symptoms of Charcot-Marie-Tooth disease caused by sorbitol dehydrogenase deficiency (CMT-SORD), a rare nerve condition. It planned to enroll people aged 16 to 65 and compare govorestat to a placebo over 36 …

This pilot study tests a fludarabine-based drug regimen to prepare children with bone marrow failure syndromes for a bone marrow transplant from a matched sibling donor. The goal is to help the donor cells successfully take root while reducing serious side effects. The study incl…

This study tests a triple-combination drug (VX-121/tezacaftor/deutivacaftor) in children aged 1 to 11 with cystic fibrosis who have a specific genetic mutation. The goal is to check how the medicine works in the body, its safety, and how well children tolerate it. Around 210 chil…

This early-phase trial tests an experimental drug called nL-FLVC-001 in a single person with posterior column ataxia with retinitis pigmentosa (PCARP), a rare genetic condition that causes vision loss and coordination problems. The drug is an antisense oligonucleotide injected in…

This phase II trial tests the safety and effectiveness of a drug called XmAb20717 in 140 people with advanced rare cancers, including mesothelioma, lymphoma, and small cell lung cancer. The drug is given by IV. The main goal is to see if tumors shrink. The trial is currently susp…

This phase 2 trial tests whether bevacizumab, a drug that blocks blood vessel growth, can reduce chronic bleeding and iron-deficiency anemia in people with hereditary hemorrhagic telangiectasia (HHT). HHT causes abnormal blood vessels that bleed easily. The study involves 33 adul…

This study is testing a less invasive procedure called TAVR to replace the aortic valve in 150 people who have a bicuspid aortic valve (a valve with two flaps instead of three) and severe narrowing. The goal is to see if it is safe and works well for people who are at low risk fo…

This study tests a device that uses ultrasound to burn nerves around the kidney arteries, aiming to lower blood pressure in people with autosomal dominant polycystic kidney disease (ADPKD) whose blood pressure remains high despite medication. 44 participants will be randomly assi…

This study tests whether empagliflozin, a drug used for diabetes, is safe and tolerable for people with autosomal dominant polycystic kidney disease (ADPKD). About 50 adults with moderate kidney function will receive either the drug or a placebo for 12 months. Researchers will mo…

This early-phase trial tests a new combination of drugs (briquilimab, abatacept, and alemtuzumab) plus low-dose radiation to prepare people with sickle cell disease for a stem cell transplant from a half-matched family donor. The goal is to reduce serious side effects like graft-…

This phase 3 study tests the long-term safety and effectiveness of a triple combination drug (vanzacaftor/tezacaftor/deutivacaftor) in 174 people with cystic fibrosis aged 1 and older. Participants who completed a prior study will receive the drug to see if it helps control sympt…

This phase 2 trial tests the drug trametinib in children and young adults (ages 1 month to 25 years) with low-grade glioma or plexiform neurofibroma that has not responded to prior treatment. Participants take a daily oral dose for up to 18 cycles. The study aims to see if the dr…

This trial tests the drug hydroxyurea in 811 children with sickle cell anemia across Africa. The goal is to see if it is safe and effective, and to make it more available. Children take daily doses adjusted for their weight, and doctors monitor blood counts and fetal hemoglobin l…

This study tests a stem cell transplant using cells from a half-matched family donor, combined with low-dose radiation and drugs to prevent rejection, for adults with severe sickle cell disease or beta-thalassemia. The goal is to see if this gentler approach can replace the disea…

This study tests a stem cell transplant from a half-matched relative (haploidentical donor) for adults with severe sickle cell disease. The goal is to see if a gentler conditioning regimen can reduce complications like graft rejection and graft-versus-host disease. Participants r…

This study tests a weight management and health behavior program for people with BRCA or Lynch syndrome mutations, who have a higher risk of certain cancers. Participants receive diet tracking, exercise guidance, phone coaching, and online support to help them lose weight and ado…

This study looks at the long-term safety of the drug pociredir in 50 adults with sickle cell disease who have already taken it and seen benefits in an earlier study. Participants will take pociredir once daily for up to 48 months. The main goal is to track side effects and other …

This phase 2 trial is testing a daily pill called belzutifan in 50 people with VHL disease who have kidney cancer. The goal is to see if the drug can shrink tumors. Researchers are also monitoring how long any tumor shrinkage lasts and checking for side effects.

This was a planned early-stage study of a new drug called TER-1754 for people with hereditary hemorrhagic telangiectasia (HHT), a condition that causes frequent nosebleeds and abnormal blood vessels. The trial aimed to test safety and find the right dose, but it was withdrawn bef…

This study tests a special care program for pregnant women with sickle cell disease in Ghana. A team of obstetric and sickle cell experts works together to prevent complications and reduce deaths. Researchers will track 500 women to see if this low-cost approach improves survival…

This study tests whether giving children with sickle cell anemia a personalized dose of hydroxyurea can lower their need for blood transfusions. About 100 children in Uganda will receive a dose based on their own drug levels. Researchers will compare transfusion rates before and …

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare genetic disorder that affects movement and brain function. The drug aims to reduce the harmful effects of the mutated AT…

This study tests a custom-made genetic medicine (called an antisense oligonucleotide) designed for one person with dentatorubral-pallidoluysian atrophy (DRPLA), a rare inherited brain disorder. The treatment aims to reduce seizures and improve quality of life. Only one participan…

This program provides early access to an experimental drug called CNM-Au8 for people with amyotrophic lateral sclerosis (ALS), a progressive nerve disease. Participants must be 18 or older and have a confirmed ALS diagnosis. The goal is to offer treatment to those who cannot join…

This large Phase 3 trial is testing an oral drug called etavopivat in 450 people with sickle cell disease. The goal is to see if taking a pill once daily can raise hemoglobin levels and reduce the number of painful vaso-occlusive crises compared to a placebo. Participants must ha…

This study follows 30 people who previously received a gene therapy (AAVAnc80-hOTOF) for hearing loss caused by otoferlin gene mutations. Researchers will monitor safety over the long term, checking for late side effects, and measure hearing improvements using brain response test…

This study looks at whether injecting special stem-like cells called Muse cells directly into the ovaries can help women aged 28 to 70 who are in perimenopause. The cells may repair tissue, reduce inflammation, and improve hormone balance. Researchers will track safety, hormone l…

This study tests a rapid drug desensitization (RDD) protocol for adults with phenylketonuria (PKU) who have had allergic reactions to Palynziq. Over one day, patients receive gradually increasing doses to retrain their immune system. The goal is to see if they can safely restart …

This study tests whether adding everolimus to the existing drug lonafarnib can better control progeria, a rare disease that causes rapid aging in children. About 80 children with confirmed progeria will take both pills by mouth. The first part finds the safest dose of everolimus,…

This study aimed to see if the drug mitapivat could help people with sickle cell disease who also have kidney damage. It planned to measure changes in a key kidney marker over six months. However, the trial was withdrawn before enrolling any participants, so no results are availa…

This study tests whether high-dose nicotinamide (vitamin B3) is safe and can help people with dominant optic atrophy, a rare genetic disease that slowly damages the optic nerve and causes vision loss. Researchers will give 25 adults 3 grams of nicotinamide daily and monitor for s…

This phase 2 trial is testing whether a combination of two drugs, dasatinib and quercetin, is safe and feasible for people with early-stage Alzheimer's or mild cognitive impairment. The drugs aim to clear aging 'senescent' cells that may contribute to brain damage. 48 participant…

This study was designed to see if giving calcium right away to trauma patients who need large blood transfusions could help their blood clot better, reduce the need for more transfusions, and improve survival. The trial was withdrawn before enrolling any participants, so no resul…

This early-phase trial tests an experimental drug called radiprodil in 30 people with tuberous sclerosis complex or focal cortical dysplasia type II whose seizures have not responded to at least two other medications. The study is open-label, meaning everyone gets the drug, and w…

This phase 2 trial tests a gel containing sirolimus (PTX-022) on 15 people with visible venous malformations on the skin. The goal is to see if the gel is safe and can improve the appearance and symptoms of these abnormal veins. Participants apply the gel daily for 12 weeks, and …

This study was designed to test a single dose of exa-cel, a gene-edited cell therapy, in people with severe sickle cell disease who have the HbSC genotype. Participants would have received their own modified stem cells after chemotherapy. However, the trial was withdrawn before a…

This early-phase trial tests a new drug called HRO761, alone or combined with pembrolizumab or irinotecan, in people with advanced solid tumors that have high microsatellite instability (MSI-high) or mismatch repair deficiency (dMMR). The main goals are to check safety and find t…

This study tests the drug selumetinib in adults with neurofibromatosis type 1 (NF1) who have painful, inoperable nerve tumors called plexiform neurofibromas. About 145 participants will receive either selumetinib or a placebo to see if the drug can shrink the tumors and reduce pa…

This study tests a special treatment for red blood cells that aims to kill the Zika virus, making transfusions safer. About 692 people who need blood transfusions will receive either treated or standard blood. The goal is to see if the treated blood works just as well and is safe…

This study tests whether a low dose of pazopanib, a drug currently used for cancer, can reduce severe nosebleeds and improve anemia in people with hereditary hemorrhagic telangiectasia (HHT). About 70 participants will take either the drug or a placebo daily for 24 weeks. Researc…

This study tests a new drug called VAD044 in 75 adults with hereditary hemorrhagic telangiectasia (HHT), a condition that causes frequent nosebleeds and anemia. The first part compares two doses of VAD044 against a placebo to see if it safely reduces the number, length, and sever…

This study tests a drug called vosoritide in 56 children with short stature caused by certain genetic conditions. The drug targets the growth plate to help children grow faster. Participants are observed for 6 months, then treated with daily injections for 12 months to check safe…

This study tests a lotion called QRX003 in 30 people with Netherton Syndrome, a rare genetic skin condition. The lotion contains a drug that blocks certain enzymes thought to cause skin problems. Researchers are checking if it reduces redness, scaling, and itching compared to a p…

This phase 2 trial tests whether combining two immunotherapy drugs, nivolumab and relatlimab, can shrink or control advanced solid tumors with a specific genetic feature (MSI-H) that have stopped responding to prior immunotherapy. About 38 adults with these hard-to-treat cancers …

This study tests whether adding an antibody called briquilimab (JSP191) to a standard stem cell transplant can help more donor cells take root in people with sickle cell disease or beta-thalassemia. About 40 patients aged 13 and older will receive the antibody along with low-dose…

This study is testing a new device called a multichannel vestibular implant for people who have lost most or all of their balance function due to inner ear damage. The implant electrically stimulates the balance nerve to help improve stability and vision during movement. Up to 30…

This phase 3 trial tests a gene therapy called LX101 in 30 people with inherited retinal dystrophy caused by RPE65 mutations. Participants receive a single injection of LX101 into the eye, while a control group gets no treatment. The study measures changes in functional vision an…

This early-phase study tests a new type of stem cell transplant for people with severe sickle cell disease who don't have a fully matched sibling donor. It uses a half-matched family donor and a milder chemotherapy regimen to prepare the body, along with removing certain immune c…

This early study tests a gene therapy called LX101 in 9 people with a rare inherited eye disease caused by RPE65 gene mutations. The therapy delivers a working copy of the gene into the retina via a single injection. The main goals are to check safety and see if it can improve vi…

This study tests a single dose of SRP-9003 gene therapy in 17 people with limb girdle muscular dystrophy 2E/R4, a genetic muscle-weakening disease. The goal is to restore a missing protein in muscle cells and improve muscle function. Both walkers and non-walkers can join, and the…

This study looks at whether the drug bevacizumab can help people with a rare condition called hereditary hemorrhagic telangiectasia (HHT) who have severe liver problems leading to high heart output and possible heart failure. Researchers will check heart function before and after…

This study tests whether adding the drug abatacept to standard care can prevent graft-versus-host disease (GVHD) in children receiving stem cell transplants from unrelated donors. GVHD occurs when donor cells attack the patient's body, causing serious illness. The trial will enro…

This early-phase trial tests a single-dose gene therapy called SRP-9003 in 6 people with limb girdle muscular dystrophy type 2E/R4, a rare genetic muscle-weakening disease. The main goals are to check safety and see if the therapy can produce the missing beta-sarcoglycan protein …

This Phase 2 trial tests a genetically modified herpes virus (RP1) alone or with the immunotherapy drug nivolumab in people with advanced solid tumors, including melanoma, non-small cell lung cancer, and certain skin cancers. The study aims to see if the combination is safe and c…

This study tests a new drug called progerinin, given together with the standard medicine lonafarnib, in 10 children with Hutchinson-Gilford progeria syndrome (a rare disease that causes rapid aging). The goal is to find the best dose and check if the combination is safe and toler…

This study tests a two-year follow-up program for 200 adults with hereditary cancer syndromes like BRCA or Lynch syndrome. Participants get personalized care plans and regular check-ins with a genetics doctor to help them follow cancer prevention and screening guidelines. The goa…

This early-phase study tests an experimental oral drug (GSK4418959) in adults with advanced solid tumors that have specific genetic changes (dMMR or MSI-H). The drug works by blocking a protein (WRN) that these tumors need to survive. The study aims to see if the drug, alone or w…

This early-stage trial tests a single intravenous dose of a gene therapy (ATA-200) in 4 children aged 6-12 with limb-girdle muscular dystrophy type 2C/R5 (LGMD2C), a rare genetic muscle-weakening condition. The goal is to see if the treatment is safe and tolerable by delivering a…

This study tests whether using focused ultrasound to temporarily open the blood-brain barrier can safely help standard antibody therapy reach the brain in people with mild Alzheimer's or mild cognitive impairment. About 15 participants will receive the combined treatment. The goa…

This study tests a combination of an experimental immune booster (N-803) with standard checkpoint inhibitors in people with advanced solid tumors (like lung, bladder, or skin cancer) whose disease progressed after prior immunotherapy. The goal is to see if the combo can shrink tu…

This phase 2 study follows 9 adults with Usher syndrome type 1B who previously received a single injection of the gene therapy SAR421869 under their retina. Researchers are monitoring long-term safety and whether the treatment can slow retinal degeneration. The trial is active bu…

This early-phase study tests a gene therapy approach for people with severe sickle cell disease. The treatment uses a modified virus to add a gene that boosts fetal hemoglobin, which can reduce sickling and symptoms. Ten participants will receive their own gene-corrected blood st…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This phase II trial is testing whether combining two drugs—niraparib and panitumumab—can help people with advanced colorectal cancer that has spread. The study includes 26 patients whose cancer has not responded to at least one prior treatment. The goal is to see if the combinati…

This study aimed to see if the drug tolvaptan could help infants with a severe form of polycystic kidney disease (ARPKD) avoid needing dialysis or a kidney transplant in their first year of life. The trial was planned for babies between 28 days and 12 weeks old, but it was withdr…

This early-stage trial tests a gene therapy called LX2006 in 8 people with Friedreich's ataxia who also have heart muscle disease. The therapy delivers a healthy copy of the FXN gene to heart cells using a modified virus. The main goal is to check safety over 5 years, while also …

This phase II trial tests whether aspirin can delay tumor growth and maintain hearing in people with vestibular schwannoma (acoustic neuroma), a non-cancerous brain tumor. About 97 participants are randomly assigned to take aspirin or a placebo twice daily. The study tracks how l…

This study follows 9 people with a rare immune disorder called LAD-I who received a one-time gene therapy that adds a working copy of the ITGB2 gene to their own blood stem cells. Researchers want to see if the treatment safely controls the disease over many years and helps patie…

This study tests a new device called the Nectero EAST System in 46 people with abdominal aortic aneurysms (AAA). The goal is to see if it is safe and can stop the aneurysm from growing, reducing the need for major surgery. Participants receive the device through a catheter, and d…

This early-stage trial is testing a new treatment called BEAM-101 for people with severe sickle cell disease. The therapy uses a patient's own blood stem cells, which are gene-edited in a lab to produce healthy red blood cells. After a short course of chemotherapy, the edited cel…

This study tests whether injecting doxycycline directly into skin schwannomas can shrink them in people with neurofibromatosis type 2 (NF2). Nineteen participants will receive up to three injections per tumor, with the dose based on tumor size. The goal is to find a less invasive…

This study tests a modified Maze procedure done during heart surgery to treat atrial fibrillation, a common heart rhythm problem. About 151 adults with AFib scheduled for heart surgery will receive the procedure, which uses heat or cold to create scar lines in the heart and close…

This study was designed to test a new gene therapy called ASP2016 for heart problems caused by Friedreich Ataxia, a rare genetic disease. The therapy aimed to deliver a healthy copy of the faulty gene to help the heart. However, the study was withdrawn before any participants wer…

This phase 4 trial tests whether empagliflozin, a diabetes drug, can safely slow kidney growth and preserve kidney function in 44 adults with rapidly progressing autosomal dominant polycystic kidney disease (ADPKD). Participants take either empagliflozin or a placebo for 18 month…

This study follows 8 people who received a one-time gene therapy (BIVV003 for sickle cell disease or ST-400 for beta-thalassemia) to see if it remains safe and effective over many years. Researchers will track serious side effects, survival, and blood markers like hemoglobin leve…

This study is testing the long-term safety of a drug called vatiquinone in 130 people with Friedreich ataxia, a rare genetic disease that affects movement and coordination. All participants have taken vatiquinone before in earlier studies. Researchers will track side effects and …

This early-stage trial tests a gene therapy called ATA-100 for people with LGMDR9, a rare genetic muscle disease that causes progressive weakness. Six adults receive a single intravenous infusion of the therapy, which delivers a working copy of the FKRP gene. The main goal is to …

This study tests a combination of three drugs—cisplatin, romidepsin, and nivolumab—in people with advanced triple-negative breast cancer or BRCA-related breast cancer that has spread. The goal is to see if the combination can shrink tumors and control the disease. About 51 partic…

This early-stage trial tests a single injection of gene therapy for people with SMARD1 or CMT2S, rare diseases caused by mutations in the IGHMBP2 gene. The therapy delivers a working copy of the gene directly into the spinal fluid. Ten participants, ranging from infants to childr…

This study provides an experimental stem cell treatment (HB-adMSCs) to an 83-year-old man with Primary Lateral Sclerosis, a rare nerve disease that causes progressive muscle weakness. The patient's own banked stem cells are used, aiming to slow the disease. This is a single-patie…

This study tests a one-time gene therapy called SAR444836 for adults with phenylketonuria (PKU), a genetic disorder that makes it hard to break down an amino acid called phenylalanine. The therapy uses a harmless virus to deliver a working copy of the missing gene. Researchers wa…

This study compares two ways to replace a narrowed heart valve in people with a bicuspid aortic valve (a common birth defect). One method is transcatheter aortic valve replacement (TAVR), a less invasive procedure using a tube inserted through a blood vessel. The other is traditi…

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Li-Fraumeni syndrome is a rare genetic condition that greatly increases the risk of developing many types of cancer. This pilot study will test three advanced MRI techniques—whole body STIR MRI, DW-MRI, and PET-MRI—in 30 people with the condition to see how well they can detect v…

This study aims to make MRI scans clearer for people with heart arrhythmia (irregular heartbeat). Researchers will test two special imaging methods on 135 participants—105 with arrhythmia and 30 healthy volunteers—to see if they reduce blurry images caused by the irregular rhythm…

This study looks at whether stool-based tests (like the FIT test and Cologuard) can accurately detect colorectal cancer and precancerous polyps in adults with cystic fibrosis. Researchers will compare these non-invasive tests to the standard colonoscopy in 350 participants. The g…

This study tests whether a special PET scan using [11C]acetate can detect early signs that the drug rapamycin is working in people with lymphangioleiomyomatosis (LAM), a rare lung disease. Seven adults with LAM and kidney tumors will get one or two scans over 3–6 months. The goal…

This study is developing a blood test to find early-stage tumors in people with hereditary cancer syndromes (high genetic risk for cancer). Researchers will collect blood samples and medical data from about 1,400 participants across Canada. They will also interview patients and d…

This study tests a new DNA-reading technology called ultra-long read sequencing to find hidden genetic changes that standard tests miss. Researchers will analyze blood samples from 15 patients with known or suspected genetic variants in difficult-to-read DNA regions. The goal is …

This study is testing whether whole body MRI scans can help find cancers early in children and adults with Li-Fraumeni syndrome, a genetic condition that greatly raises cancer risk. About 150 participants will receive annual whole body MRI scans for four years to see if they keep…

This study aims to create a simple test battery to determine fall risk in people with neuromuscular disorders, such as muscular dystrophy or ALS. Researchers will assess 108 participants using several physical tests like walking, standing, and rising from a chair. The goal is to …

This study tests whether taking aspirin can prevent ovarian cancer in women with BRCA1 or BRCA2 gene mutations, who are at high risk. About 117 participants will take either aspirin or a placebo daily for up to 2 years before their scheduled risk-reducing surgery. Researchers wil…

This study tests different programs to help people at high risk for cancer (such as those with BRCA or Lynch syndrome) or cancer survivors increase their physical activity and eat healthier. The goal is to see which programs work best to reduce cancer risk. About 337 participants…

This trial asks whether hydroxyurea, a daily oral medication, can reduce the risk of a first stroke in children with sickle cell anemia. Researchers will use transcranial Doppler (TCD) ultrasound to measure blood flow in the brain, a key indicator of stroke risk, in children aged…

This early-stage study tests an experimental vaccine designed to prevent cancer in adults with BRCA1 or BRCA2 gene mutations. The vaccine is given alone or with another drug, followed by a mild electric pulse to help it enter cells. Researchers want to see if it is safe and wheth…

This study looks at two types of surgery to prevent ovarian cancer in women aged 30-50 who have gene mutations that raise their risk. One surgery removes both the fallopian tubes and ovaries, while the other removes only the tubes first and delays removing the ovaries. The goal i…

This phase IIb trial tests whether a vaccine called Tri-Ad5, combined with an immune booster N-803, can prevent colon cancer in people with Lynch syndrome. The vaccine targets proteins found in precancer and cancer cells, aiming to train the immune system to destroy them. 186 par…

This study tests a surgery called radical fimbriectomy in women with BRCA mutations who are at high risk for pelvic cancer but want to keep their ovaries. The procedure removes the fallopian tubes, where many of these cancers start, while leaving the ovaries to produce natural ho…

This study tests if a drug called dalargin can prevent serious organ problems like kidney injury, lung failure, or heart damage after major abdominal surgery. About 200 adults having high-risk surgery will get either dalargin or a placebo for 3 days. The goal is to see if dalargi…

Researchers are testing whether anakinra, a drug that blocks inflammation, can improve lung function in people with cystic fibrosis. The trial enrolls about 52 participants aged 12 and older who receive daily injections of anakinra or a placebo for 28 days, then switch to the oth…

This study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …

This trial tests a home-based program called the Sickle Cell Caregiver Collaboration for Child Development (SCCCD) for infants and toddlers with sickle cell disease. The program combines a parenting curriculum with occupational therapy to help families support their child's learn…

This study tests whether tenapanor, a drug already approved for irritable bowel syndrome with constipation, can help people with cystic fibrosis who have constipation. Twenty-five adults will take a 50 mg tablet twice daily for 4 weeks and track their bowel movements and symptoms…

This study tests whether people with sickle cell disease can reduce their pain by doing acupressure on themselves at home using a simple tool called AcuWand. Three hundred adults will either perform real or sham acupressure every other day for five weeks. The goal is to see if th…

This study looks at whether acupuncture can help manage chronic pain in people with sickle cell disease. Researchers will use brain scans and other tests to understand how acupuncture affects pain signals. The study involves 60 participants aged 14 to 80 who have sickle cell dise…

This study tests whether a safe, painless brain stimulation technique called tDCS can improve verbal learning in people with Alzheimer's disease. Researchers will compare active stimulation to a sham (fake) version in 90 participants with typical or language-based Alzheimer's. Th…

This study tests an injection called KP-100LI for people with vocal fold scars that cause voice problems. About 62 adults will receive either the study drug or a placebo to see if it improves voice function over 24 weeks. The goal is to confirm the treatment is safe and effective…

This study tests a specially adapted stress management program called 3RP-VHL for adults with von Hippel-Lindau disease (VHL), a genetic condition that causes tumors. The program teaches relaxation and resilience skills through 8 video sessions. Researchers want to see if it is f…

This study tests whether monthly alexandrite laser treatments can safely shrink or improve the look of skin tumors in adults with neurofibromatosis type 1 (NF1). Ten participants will receive up to six monthly laser sessions, with some areas treated with cooling and others withou…

This study tests whether taking a special olive oil (high in a compound called oleocanthal) along with curcumin (the active part of turmeric) is safe and might help shrink skin tumors in adults with neurofibromatosis type 1 (NF1). About 23 participants take the supplements twice …

This study looks at whether a bronchodilator (a drug that opens airways) can reduce shortness of breath and improve exercise ability in adults with cystic fibrosis. Twenty participants will receive either the drug or a placebo and then do exercise tests to compare their breathing…

This study tests a new device called SonoHeal that uses sound waves to help people with cystic fibrosis, bronchiectasis, or COPD clear mucus from their lungs. Fifteen participants will try the device at home to see if it is easy to use and acceptable. The study also compares it t…

This study looks at whether a home-based strength exercise program can improve muscle health in 48 children and teens with cystic fibrosis who are taking new CFTR modulator drugs. Participants are split into an exercise group and a control group. Researchers will measure muscle s…

This study tests whether rinsing the nose with a xylitol solution can reduce sinus symptoms in adults with cystic fibrosis. Participants will use both xylitol and standard saline rinses at different times to compare effects. The goal is to see if xylitol, a natural sugar alcohol,…

This study is testing whether a moderate exercise program can improve strength, balance, and endurance in children with sickle cell disease. Twenty children ages 6 to 17 will take part in strengthening and endurance exercises. Researchers will measure changes in muscle strength, …

This early-stage trial tests whether monthly injections of Kybella (a drug that dissolves fat) can safely shrink skin tumors in people with Neurofibromatosis Type 1. Up to 15 adults will receive up to 6 monthly treatments, and researchers will compare treated and untreated tumors…

This study tests whether a non-invasive brain stimulation technique called theta-burst stimulation (TBS) can improve cognitive function in people diagnosed with young-onset Alzheimer's disease (before age 65). Seventy participants will receive TBS to a specific brain area, and re…

This study looks at whether a gentle brain stimulation technique (tDCS) combined with a special exercise program can reduce symptoms of spinocerebellar ataxia, a disease that affects coordination and balance. Fifteen adults who can walk (with or without help) will receive either …

This study is testing whether using HEPA air purifiers at home can reduce respiratory symptoms and improve lung function in children and adults with Cystic Fibrosis (CF) or Primary Ciliary Dyskinesia (PCD). Participants will have two purifiers installed in their home and will und…

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study tests a small device that delivers mild electrical stimulation to the perineum (the area between the scrotum and anus) to help men who leak urine after prostate removal surgery. Thirty men who are scheduled for robotic prostate surgery and already use at least one pad …

This study looks at whether a plant-based omega-3 supplement from flaxseed can reduce pain and improve quality of life in children with sickle cell disease. About 30 children aged 5-18 will take flaxseed and report their pain levels. The goal is to see if this natural option is m…

This study tests a 6-week group program called Working Out Dads (WOD) to see if it helps reduce mental health struggles in fathers of children aged 0-4. About 293 dads with mild to moderate distress will either join the WOD peer-support group or receive usual care. The goal is to…

This study compares two tools, piezotome and periotome, used for gentle tooth extraction before placing a dental implant right away in the front upper teeth. The goal is to see which tool better preserves bone and gum tissue, leading to improved healing and appearance. Thirty adu…

This study tests whether a non-invasive brain stimulation technique called transcranial direct current stimulation (tDCS) can improve movement in people with degenerative ataxia, a rare condition that damages the cerebellum and impairs balance and coordination. Sixteen participan…

This study looks at whether acceptance and commitment therapy (ACT) can improve sleep for adults with sickle cell disease. Participants will have weekly video chats with a coach for 8 weeks and wear a wrist device to track sleep. The goal is to see if this approach is practical a…

This pilot study tests a short online program called 'Well-Beans for Caregivers' for adults caring for someone with tuberous sclerosis complex (TSC). The program consists of three weekly 2-hour sessions based on Acceptance and Commitment Therapy to help caregivers cope with diffi…

Researchers at the University of Illinois at Chicago are studying how the bodies of adults with sickle cell disease handle glucose, cholesterol, and triglycerides, and why some of them develop diabetes. The study enrolls 75 adults over 35 with major sickle cell genotypes. Partici…

This study enrolls 130 Hispanic adults aged 55+ without dementia to see if a 12-week phone-based coaching program helps them become more active. Participants are randomly assigned to either the coaching program or a general brain health education group. The goal is to see if the …

This natural history study follows 259 children, adolescents, and adults with Neurofibromatosis Type 1 (NF1) for up to 10 years. Researchers will track tumor growth, monitor quality of life, and perform genetic testing to better understand how the disease changes over time. The g…

This study collects blood and other samples from people with sickle cell disease and healthy volunteers to help researchers understand how inflammation affects blood vessels. Up to 2,000 adults aged 18 and older will take part. The samples will be used in lab tests to support fut…

This study looks at whether a website and a genetic family navigator can help more relatives of people with hereditary cancer get genetic testing. About 205 participants will use the online hub and work with a navigator to learn about their cancer risk. The goal is to see if this…

This observational study will examine how the drug mitapivat changes red blood cells in 6 people with sickle cell disease. Researchers will measure oxygen binding and cell survival markers from blood samples and muscle oxygen tests. The goal is to understand the drug's effects, n…

This pilot study looks at biomarkers in the blood of people with fragile sarcolemmal muscular dystrophy, a condition that makes muscle membranes weak. Researchers will collect blood samples at rest and after exercise during four 5-day hospital stays. The goal is to better underst…

This study looks at people and families who have a high risk of cancer to learn what genes and environmental factors might increase that risk. Over 5,000 participants are followed over time with questionnaires, medical records, and optional genetic testing. No treatment is given,…

This study collects health information and test results from 317 people at high risk for pancreatic cancer, including those with cysts, genetic syndromes, or other risk factors. Researchers aim to build a database to find better ways to detect the disease early or prevent it. No …

This study follows 25 people with spinocerebellar ataxia type 7 (SCA7) for up to 5 years to learn how the disease changes vision, coordination, and thinking. Participants will have yearly eye exams, brain scans, and neurological tests. No treatment is given; the goal is to gather…

This study aims to understand how small blood vessels in the lungs change as cystic fibrosis (CF) lung disease progresses. Researchers will use imaging to measure blood vessel volume in 86 people with CF aged 5-21. The goal is to learn more about the disease, not to test a new tr…

This study follows children and adults with medullary thyroid cancer (MTC), often linked to a genetic condition called MEN2. Researchers will track how the cancer grows and affects health over time using regular check-ups, blood tests, and imaging. No treatment is given, but part…

This study tests whether a balloon device, called REBOA, can be safely used by emergency teams outside a hospital to improve blood flow in people whose heart has stopped (cardiac arrest). The balloon is inserted into the main artery and inflated to redirect blood to the heart and…

This study looks at how common strokes and silent brain injuries are in young adults (ages 16-25) with sickle cell anemia, especially in Nigeria where the disease is widespread. Researchers will use brain scans and blood tests to check for damage and identify risk factors like hi…

This study aims to find blood-based biomarkers that signal the presence and size of plexiform neurofibromas in people with Neurofibromatosis type 1 (NF1). Researchers will collect blood samples and use whole-body MRI to compare biomarker levels in 200 participants with different …

This study looks at 401 people with autosomal dominant polycystic kidney disease (ADPKD) to see how different versions of the PKD1 gene relate to patient traits like age at diagnosis and body size. Researchers are not testing any treatment—they are simply gathering information to…

This study enrolls adults aged 60 and older who are already participating in a larger trial comparing two ways to repair a leaky mitral valve. Researchers will use heart MRI scans, wearable heart monitors, and tissue samples to look for scarring in the heart muscle and abnormal h…

This study is creating a statewide collection of blood samples and medical information from people with various brain blood vessel diseases, such as stroke and dementia. The goal is to build a resource that scientists can use in future research to better understand and potentiall…

This 5-year study follows 250 people with von Hippel-Lindau disease who have brain or spinal cord tumors. Researchers use regular MRI scans and blood tests to see how fast tumors grow and what factors like hormones might affect growth. The goal is to better understand which tumor…

This study is testing whether a blood test (liquid biopsy) can detect a rare but serious nerve tumor called MPNST earlier than current methods in adults with Neurofibromatosis Type 1 (NF1). Researchers will compare the timing of tumor detection by the blood test versus standard i…

Researchers in the UK are following 1,000 people with cystic fibrosis (CF), including children and adults, to see how many develop antibodies to the virus that causes COVID-19 over two years. They will take blood samples every six months to measure antibody levels after natural i…

This study aims to find early markers of Parkinson's disease, multiple system atrophy, and Lewy body dementia by analyzing samples from the nose, blood, and urine. Researchers will compare results from 180 people with these conditions and healthy volunteers. The goal is to improv…

This study follows 154 people taking Epidiolex (cannabidiol) for seizures caused by Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex. Researchers will monitor for signs of chronic liver injury and fibrosis over time using blood tests and liver scans. The go…

This study looks at whether watching an online genetics video, with or without phone counseling from a genetic counselor, can reduce the stress women feel about their cancer risk. It involves 5,200 women aged 30 or older who have had triple-negative breast cancer and still have a…

This study looks at whether carrying sickle cell trait—a genetic variant common in African Americans—might lead to bone thinning at a younger age than usual. It also aims to understand why people with sickle cell disease often have thinner bones, by checking whether the body make…

This study monitors the safety of selumetinib in children aged 3 to 18 with neurofibromatosis type 1 and symptomatic, inoperable plexiform neurofibromas. Researchers will track potential side effects on the heart, bones, muscles, liver, eyes, and puberty. The goal is to better un…

This study looks at how blood flow and metabolism affect brain development in children with sickle cell anemia. Researchers will use MRI scans and a special mask to have participants breathe carbon dioxide, which helps measure how well brain blood vessels expand. The goal is to u…

This study follows individuals with autism who carry a PTEN gene mutation, along with comparison groups, to track changes in thinking, language, and behavior over time. Researchers will also collect blood samples and medical data to build a large database for future studies. The …

This study investigates whether advanced brain imaging and electrical recordings can predict the presence and severity of autism spectrum disorder (ASD) and intellectual disability (ID) in people with tuberous sclerosis complex (TSC). Researchers will follow participants over tim…

This study is investigating whether testing for a panel of 24 genes, in addition to the well-known BRCA1 and BRCA2 genes, can better estimate the risk of breast and ovarian cancer. Researchers will analyze genetic samples from people with a family history of these cancers, as wel…

This study is a patient registry that will follow people of any age with bile acid synthesis disorders who are treated with Cholbam (cholic acid). The goal is to collect information over 10 years on how the drug performs in routine clinical care, including its safety, effectivene…

This study looks at how much people trust institutions (like health organizations) when it comes to advice about physical activity. Researchers will ask 2000 volunteers questions about their trust levels, lifestyle, and background. The goal is to understand what factors influence…

This study follows 850 people aged 40-64 with early-onset cognitive impairment to understand how Alzheimer's disease progresses. Participants undergo cognitive tests, brain scans, and genetic analysis, but no experimental treatment is given. The goal is to gather data that could …

This study tests a special needle with a tiny tracking device inside, like a mini GPS, to help doctors find tumors that are hard to see on CT scans. About 3,900 adults with certain cancers or growths will have their biopsy or ablation procedure done using this smart needle. The g…

This study follows 127 people with a genetic eye condition called USH2A-related retinal degeneration, which can cause vision loss and hearing problems. Researchers measure changes in vision, retinal sensitivity, and mobility over several years. The goal is to understand how the d…

This study looks at how Friedreich's ataxia, a genetic nerve disease, affects thinking skills like memory and problem-solving. Researchers will compare cognitive test results between people with the condition and healthy volunteers, and see if these results relate to the number o…

This study tests whether a 12-lead wearable Holter monitor can be worn during MRI, CT, X-ray, and echocardiography without affecting image quality or the device's ability to record heart signals. Researchers will enroll 500 adults who need these imaging exams and will check for e…

This observational study looks at how common overweight and obesity are in adults with phenylketonuria (PKU) and what factors might contribute. Researchers will collect clinical data, lab results, and questionnaire responses on diet, exercise, and mental health from 100 adults at…

This study examines walking patterns in people with Parkinson's disease and similar neurological conditions, as well as healthy volunteers. Researchers aim to identify unique 'gait signatures'—speed-dependent measures of walking—that could help distinguish between different disor…

This study is testing a tiny camera called micro OCT that can take detailed pictures of cells inside the lungs and nose. Researchers want to see if it works well in people with cystic fibrosis and other lung conditions. The goal is to eventually use this imaging to detect early d…

This study observes 80 children with Marfan syndrome to understand how the condition impacts their quality of life, self-image, and ability to manage their health. Participants fill out questionnaires about their well-being and medication habits. The goal is to identify who might…

This study looks for biological markers in the blood and tissue of adults with Marfan syndrome that could signal when an aortic aneurysm is dangerous enough to require surgery. Researchers will compare three groups of Marfan patients: those without aortic aneurysms, those with st…

This observational study collects extra tumor tissue from 416 people with various cancers (bladder, kidney, colorectal, head and neck, liver, lung, skin, endometrial) during routine biopsies. The goal is to develop and train a 'live tumor diagnostic platform' that can predict whe…

This study is building a large gene bank by collecting blood samples and health information from nearly 10,000 people who have had heart catheterization or cardiac CT scans. The goal is to identify genetic and other factors that contribute to coronary artery disease. Participants…

This study looks at whether a special electronic pill bottle (AdhereTech) can accurately track how often teens with sickle cell disease take their medication, hydroxyurea. About 36 teens aged 12 to 17 will use the bottle for two months. Researchers will compare the bottle's data …

This study follows 70 infants with cystic fibrosis to see if a specific germ (Porphyromonas catoniae) found in their body at 12 months old can predict whether they will get a serious lung infection with Pseudomonas aeruginosa by age 3. Researchers collect sputum, stool, and blood…

This study aimed to see if a portable device could reliably collect breath samples from people with cystic fibrosis and healthy volunteers while they walked in parks or city streets. The goal was to measure certain substances in the breath that might show how the environment affe…

This 24-month observational study follows 100 people aged 12–50 with Limb Girdle Muscular Dystrophy type R1 (LGMD R1). Researchers will test whether a motor function scale called NSAD and muscle fat measurements from MRI can reliably track disease progression. The goal is to vali…

This study uses special brain scans (MRS) to measure two natural chemicals, GABA and glutathione, in people with Friedreich's Ataxia (FRDA). Researchers want to see if these chemicals can serve as reliable markers of the disease and how they change after taking the drug Omaveloxo…

This study uses a radioactive tracer called [18F]MK-6240 to take detailed pictures of tau protein clumps in the brain, a hallmark of Alzheimer's disease. Researchers will scan 200 people from families with a rare genetic form of Alzheimer's to see how tau buildup changes over tim…

This study uses advanced CT scans to look for fat and scar tissue inside the heart. Researchers want to see if these findings can help predict who is at risk for dangerous heart rhythms. About 110 adults with heart disease who already have a defibrillator or need one will get a C…

This study looks at skin cells (fibroblasts) from people with Marfan syndrome and other genetic conditions that cause thoracic aortic aneurysms (a bulging of the main artery in the chest). Researchers want to find out how these cells behave differently and what genes or proteins …

This Stanford study is testing whether non-intrusive sensors placed in the home can automatically track neuropsychiatric symptoms like mood changes and agitation in older adults. Researchers will enroll 25 participants with or at risk of mild cognitive impairment or dementia, alo…

This study creates a long-term repository of blood, tissue, and health information from 810 people with breast cancer, benign breast disease, or no breast issues. The goal is to provide researchers with resources to better understand breast cancer. No treatment or experimental th…

This study follows 430 people with Cowden's disease (a PTEN gene mutation) to better understand their risk of developing cancer. Researchers will track how many participants get cancer over time. The goal is to improve monitoring and care for this high-risk group.

This study aims to understand why kidney tumors in people with VHL syndrome can be different from each other. Researchers will use advanced imaging, multiple biopsies, and lab-grown tumor models to map these differences. The goal is to learn more about the disease, not to test a …

This study asks 200 adults with von Hippel-Lindau syndrome to fill out an anonymous online questionnaire about their quality of life, psychological well-being, and difficulties accessing care. No treatment or medical tests are involved — the goal is simply to learn what patients …

This study was designed to see if a smartphone app called iBlink can measure how well the brain learns new movements in people with spinocerebellar ataxia, a rare and serious movement disorder. Researchers planned to compare aerobic exercise with balance training to see which bet…

This study looks at whether a 25-minute hydration education session plus a self-assessment worksheet can help wildland firefighters and other active people drink more fluids and stay hydrated. About 38 participants who are underhydrated will be split into two groups: one gets the…

This study looks at how different types of Achromobacter bacteria affect the lungs of people with cystic fibrosis on Réunion Island. Researchers will analyze sputum samples from 17 patients to see if certain species cause more lung infections or lead to worse outcomes. The goal i…

This study looks at whether losing weight over two years can improve how the kidneys use oxygen and how the body responds to insulin in people with autosomal dominant polycystic kidney disease (ADPKD) who are overweight. Researchers will use PET scans and insulin tests to measure…

This study is for people with autosomal dominant hypocalcemia types 1 or 2, rare genetic conditions that cause low blood calcium. Researchers will collect past and future health data from 95 participants to learn how the disease changes over time. The goal is to better understand…

This study looks at skin and blood samples from 200 people with ichthyosis (a genetic condition causing dry, scaly skin) and healthy volunteers. Researchers want to find specific markers that could help them understand the disease better and develop new treatments. No treatment i…

This study planned to test whether a specific breathing technique called autogenic drainage helps clear mucus and improve lung function in people with cystic fibrosis. The study was withdrawn before enrolling any participants, so no results are available. It would have measured c…

This study is creating a registry of people with Hereditary Hemorrhagic Telangiectasia (HHT), a rare condition that causes abnormal blood vessels and frequent nosebleeds. Researchers will collect health information from about 1,000 adults over many years to see how the disease ch…

This study evaluates a program that aims to improve diets by making healthy foods like fish, chicken, and eggs more available and affordable for low-income households in Mozambique. Researchers will survey over 5,000 men and women to see if the program increases how often they ea…

This study gathers health questionnaires from up to 1,500 people with multiple endocrine neoplasia (MEN1 or MEN2) and their close relatives. The goal is to build a database that helps researchers better understand these rare inherited conditions. No new treatments or procedures a…

This study follows 5 people with cystic fibrosis who previously received a single dose of BI 3720931 gene therapy or placebo. No new treatment is given. Researchers will monitor participants for up to 15 years to check for long-term side effects and track lung function. The goal …

This study looks at how certain blood chemicals and blood vessel function relate to kidney disease severity in people with early-stage Autosomal Dominant Polycystic Kidney Disease (ADPKD). Researchers will measure homocysteine levels and blood vessel health in 80 participants age…

This study aims to find the genes and other factors that explain why some people with cystic fibrosis develop diabetes while others do not. Researchers will analyze DNA from 1,500 people with cystic fibrosis and their parents. The goal is to better understand the causes of cystic…

This study was designed to see how long specially treated red blood cells survive in adults with sickle cell disease who receive regular blood exchange therapy. It was withdrawn before any participants were enrolled, so no results are available. The goal was to better understand …

This study follows 5 people with a rare, late-onset form of TPP1 deficiency (a brain disease) to track how their symptoms change over time. Researchers will use tests like brain scans, eye exams, and movement assessments to better understand the condition. The goal is to gather i…

This study is looking for the genetic causes of bicuspid aortic valve disease, a common heart condition where the aortic valve has two flaps instead of three. Researchers will analyze DNA from 11,000 participants, including patients and their relatives, to find gene changes linke…

This study looks at whether treating obstructive sleep apnea (OSA) with a breathing device (CPAP) lowers blood pressure more in people who are very sleepy compared to those who are not. Researchers will analyze data from about 10,000 adults with OSA from previous studies. The goa…

This study from Mayo Clinic is creating a large collection of blood, urine, stool, spinal fluid, and skin samples from 1000 people with ataxia and related genetic diseases, plus their healthy family members. The goal is to better understand the genetic and physical features of th…

This study looks at how platelets and inflammation work together during painful crises in adults with sickle cell disease. Researchers will take blood samples from 25 patients hospitalized for a crisis to analyze these processes. The goal is to better understand the disease, not …

This study looks at how older adults (65+) with cancer understand their illness and what they value in life before and after a major operation. Researchers will interview 100 patients to learn about their awareness, expectations, and decision-making. No new drug or treatment is b…

This study is measuring body composition, muscle strength, and nutrition in 300 adults with cystic fibrosis. Researchers are comparing simple tests like grip strength and walking distance to a standard body scan. The goal is to find better ways to track health and guide future tr…

This study looks at how diet and exercise affect the epigenome—chemical marks on DNA—in sperm of overweight Hispanic men. Researchers will compare sperm from 20 healthy active men and 80 obese inactive men before and after a 12-week program of diet, exercise, or both. They will a…

This study is a national registry collecting data from 1500 people with familial adenomatous polyposis (FAP) and related conditions across 28 Italian centers. It aims to better understand how these diseases progress, how they are currently managed, and what factors influence outc…

This study uses a portable 48-hour EEG monitor to check for hidden seizures in people with early-onset Alzheimer's disease (ages 40-64). Researchers want to learn how common seizures and epilepsy are in this group. The study involves 20 participants and is purely observational, m…

This study is observing 162 adults with cystic fibrosis at a Belgian hospital to see how having diabetes affects their quality of life, lung function, and nutrition. Researchers will compare those with and without diabetes using questionnaires and breathing tests. The goal is to …

This study uses advanced MRI scans to track lung structure and function in people with cystic fibrosis who are taking CFTR-modulator therapy. Researchers will compare MRI results with standard breathing tests and quality-of-life measures. The study includes healthy volunteers, st…

This study follows 102 adults with sickle cell disease to track how often silent and overt strokes occur. Participants undergo regular MRI scans and neurological exams over 3.5 years. The goal is to gather data that could lead to the first stroke prevention trials specifically fo…

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …

This study looks at how bacteria living in the gut and diet might influence colorectal cancer risk in people with Lynch syndrome and other inherited colon conditions. Researchers will collect stool samples, colon biopsies, and diet questionnaires from 77 participants during routi…

This study was designed to test a holistic education program for stress management in people from colonized English-speaking countries. It aimed to help with conditions like stress, PTSD, anxiety, and fatigue using pastoral counseling and self-care activities. However, the study …

This study follows 44 people with a rare genetic form of Usher syndrome caused by PCDH15 mutations. Over 48 months, researchers measure how their vision changes using eye exams and imaging. The goal is to identify the best ways to track disease progression, which will help design…

This study tests a new, non-contrast MRI technique to map blood flow in the lungs of 26 children with cystic fibrosis (ages 6–21). The goal is to see if blood vessel damage happens early, before standard breathing tests show problems. Participants will be scanned at the start and…

This study looks at how different ways of helping children breathe during general anesthesia might affect the success of a heart procedure called radiofrequency ablation. The procedure uses heat to fix abnormal heart rhythms. The study will compare two breathing methods in 100 ch…

This study reviewed records of 70,000 adults who had non-urinary surgery under general anesthesia. It compared two drugs used to reverse muscle relaxants: sugammadex and neostigmine (given with atropine or glycopyrrolate). The goal was to see which drug is linked to fewer cases o…

This study collects kidney tissue from 100 adults with autosomal dominant polycystic kidney disease (ADPKD) who are already scheduled for kidney removal. Researchers will analyze the tissue for additional genetic mutations that may drive cyst formation. The goal is to better unde…

This study looks at whether using a robot to remove one kidney in people with autosomal dominant polycystic kidney disease (ADPKD) is safe and effective compared to traditional open surgery. Researchers will track 57 adult patients to see if the robotic approach leads to fewer co…

This study tests a web-based tool called CHOICES that provides tailored information about reproductive health options for people with sickle cell disease or trait. The study involves 506 adults aged 18-45 who plan to have a child within two years. The goal is to see if the tool i…

This study follows 25 people with limb-girdle muscular dystrophy type 2A (LGMD2A), a rare genetic disease that causes progressive muscle weakness. Researchers will measure how muscle strength changes over time and how it affects quality of life. The goal is to better understand t…

This study is testing a new type of ultrasound called super-resolution ultrasound (SRU) to get a detailed look at the tiny blood vessels in the kidneys. Researchers will compare images from 34 people with ADPKD and healthy volunteers to see if SRU can detect differences in blood …

This study follows 80 people with Neurofibromatosis type 1 (NF1) who are at high risk for developing malignant peripheral nerve sheath tumors (MPNST). Researchers will use yearly whole-body MRI scans, blood samples, and checkups to track changes in nerve lesions over time. The go…

This study follows 432 adults who were in the ICU after a traumatic injury or burn. Researchers want to see if and why patients develop long-term problems with memory, thinking, and daily function. By tracking cognitive skills and inflammation over time, they hope to uncover link…

This study looks at whether people with Lynch Syndrome—a condition that raises the risk for several cancers—follow recommended screening guidelines after genetic counseling. Researchers will track about 1,530 participants to see who gets the suggested tests and what factors help …

This observational study plans to enroll 120,000 people with various chronic diseases like pancreatitis, diabetes, and arthritis. Researchers will collect blood samples and health data to study how genetics and lifestyle affect disease progression. The goal is to find common dise…

This study tests whether a research website helps people with cystic fibrosis (CF) feel more prepared to discuss lung transplant with their doctors. About 132 adults with CF and low lung function will use the website and attend Zoom sessions over 6 months. The goal is to increase…

This study gathers information from 1,000 adults who have or will receive a cardiac implantable electronic device (CIED) for heart rhythm problems like bradycardia or tachycardia. Researchers collect details about the device, the implant procedure, and patient characteristics to …

This study looks at how different types of fats in the blood (like cholesterol) are linked to complications in adults with sickle cell disease. Researchers will follow 116 participants from the French Caribbean islands to track their fat levels over time and during acute events l…

This study tests whether a 48-hour BH4 loading test can predict which people with phenylketonuria (PKU) will respond to treatment. Twenty participants receive BH4 and have their blood phenylalanine levels measured over two days. The goal is to link test results with each person's…

This study tests whether a culturally-informed telephone counseling program can help Latina women at high risk for hereditary breast or ovarian cancer learn more about their risk and feel more in control. About 493 women with a personal or family history of these cancers will tak…

This study follows 205 people with four types of limb-girdle muscular dystrophy (LGMD) to understand how the disease changes over time. Participants will have their muscle strength, movement, and breathing tested regularly for up to 5 years. No treatment is given; the goal is to …

This study follows 285 pregnant women with cystic fibrosis to see how CFTR modulators affect lung function during and after pregnancy. Researchers will measure breathing capacity before, during, and up to two years after delivery. The goal is to better understand how these medica…

This study from Mayo Clinic is looking at 100 people with autosomal dominant polycystic kidney disease (ADPKD) to see if certain markers in the blood and urine can predict how fast their kidney disease gets worse. Researchers will measure kidney size and function over time and co…

This study aims to understand how nontuberculous mycobacteria (NTM) spread among people with cystic fibrosis (CF). NTM infections are hard to treat and common in CF, but their sources are unclear. Researchers will track 100 participants with CF and NTM, testing dust and water in …

This study follows 500 people with neurofibromatosis type 1 (NF1) to see how their skin tumors (called cutaneous neurofibromas) grow and change over time. Researchers use 3D whole-body photography to track tumor number and size each year. The goal is to better understand these tu…

This study looks at 5000 people with cystic fibrosis who are already taking approved CFTR modulator medicines. Researchers measure sweat chloride levels before and after treatment to see how the drugs affect the body. The goal is to better understand the link between sweat chlori…

This study was designed to track the natural course of gamma-sarcoglycanopathy (LGMDR5), a rare muscle-weakening disease, over two years. Researchers planned to measure changes in muscle strength, walking ability, and daily function in patients aged 6 to 35. The goal was to bette…

This study looks at how CFTR modulators, a type of cystic fibrosis treatment, affect bone strength and muscle mass in adults with CF. Researchers will measure changes in bone density and lean body mass over 12 to 24 months. The goal is to understand whether these treatments help …

This study looks at how problems with mitochondria—the tiny power plants inside cells—might affect bone health. Researchers will compare 30 people with certain genetic changes that cause mitochondrial dysfunction to healthy volunteers. They will take blood, bone marrow, and bone …

This study looks at the genes of 1000 people with severe early-onset obesity to find rare genetic causes. It focuses on conditions like Bardet-Biedl syndrome. The goal is to better understand these conditions and improve how they are diagnosed. Participants provide a blood or sal…

This study looks at genes, other than the CF gene, that might explain why some people with cystic fibrosis develop severe liver disease while others do not. Researchers are analyzing blood samples and medical records from 154 participants with CF who have serious liver problems. …

This study examines how different genes influence the severity of lung disease in people with cystic fibrosis. Researchers will analyze genetic data from 600 participants to identify gene variants linked to milder or more severe lung problems. The goal is to better understand the…

This study interviews and surveys 70 adolescents and adults with sickle cell disease to understand why they sometimes skip their daily medications. Researchers will also ask what kind of text-message reminders patients would find helpful. The goal is to design a better support sy…

This study looks at whether yearly MRI scans can find new head and neck or brain cancers early in people who had hereditary retinoblastoma and were treated with radiation. Researchers will follow 88 participants for 10 years to see if early detection leads to better surgery outco…

This study tests two types of hyperextension braces (Jewett and Spinomed) on 30 healthy adults aged 18-35. Researchers measure how much each brace limits spinal movement and affects posture during daily activities like standing and squatting. The goal is to provide clear data to …

This observational study looks at muscle strength, structure, and nerve function in people with Marfan syndrome or Ehlers-Danlos syndrome. Participants undergo a non-invasive muscle ultrasound and perform voluntary contractions while their muscle activity is recorded. The goal is…

This observational study reviews medical records from 70 adults with advanced autosomal dominant polycystic kidney disease (ADPKD) who are already taking the drug octreotide LAR. Researchers want to see if baseline kidney volume and other factors can predict how quickly kidney fu…

This study looks at whether artificial intelligence can create realistic, privacy-safe copies of health records from people with a rare kidney disease called ADPKD. Researchers will use these simulated datasets to run virtual clinical trials and see if they produce similar result…