Autosomal genetic disease

This Phase 3 trial tests whether vatiquinone can slow the progression of Friedreich's ataxia, a rare genetic disorder that damages the nervous system and impairs movement. About 120 adults with moderate symptoms will take the drug for 24 months. Researchers will measure changes i…

This study tests the drug upadacitinib (Rinvoq) in 30 people with rare genetic disorders that overactivate the JAK-STAT immune pathway. The trial has four phases over 12 months, including an open-label phase to find the best dose and a randomized withdrawal phase to compare the d…

This study tests an oral drug, AV078, in people aged 12 and older with tuberous sclerosis complex (TSC) whose seizures are not controlled by standard medications. Participants are randomly assigned to receive AV078 or a placebo for 12 weeks. The goal is to see if AV078 safely red…

This study tests a drug called exaluren in 24 people aged 12 and older with Alport syndrome caused by specific genetic errors. The drug is given as a daily shot for 32 weeks. Half the group starts exaluren right away, while the other half gets a placebo first and then switches to…

This phase 3 trial tests whether NPI-001, taken twice daily for 24 months, can slow the loss of light-sensing cells in the eyes of adults with Usher syndrome, a genetic condition that causes both hearing and vision loss. About 80 participants will receive either the drug or a pla…

This study tests a new microtablet protein substitute for people with phenylketonuria (PKU), a condition requiring a strict low-protein diet. The microtablets combine protein with vitamins and minerals, aiming to be easier to take than current liquid or powder options. About 20 a…

This study tests whether a low-carbohydrate, plant-based diet can lower inflammation in people with autosomal dominant polycystic kidney disease (ADPKD). Thirty-six adults will try the special diet and their usual diet in random order, each for 12 weeks. The main goal is to see i…

This Phase 3 trial tests whether the drug mitapivat can reduce the need for blood transfusions in people with sickle cell disease. About 159 participants aged 12 and older will receive either mitapivat or a placebo daily for a year. The main goal is to see if more people can avoi…

This study tests whether a common antibiotic for women's UTIs, fosfomycin-trometamol, works well for men with urinary tract infections. Current treatments can have serious side effects and increase antibiotic resistance. The trial will enroll 138 men in primary care and monitor f…

This study tests whether adding hyaluronic acid gel to standard deep cleaning (scaling and root planing) improves gum healing in people with both diabetes and advanced gum disease. Twenty-three participants will receive the standard cleaning on all teeth, and then two gum pockets…

This study will test whether a nutrition supplement with different forms of certain nutrients works better than standard supplements for adults with cystic fibrosis. Sixty participants will take the supplement for six weeks, and researchers will measure nutrient levels in their b…

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

This study tests whether everolimus, a drug already approved for other conditions, can safely improve social abilities in people with PTEN Hamartoma Tumor Syndrome (PHTS). About 60 adults and children with PHTS and social difficulties will take either everolimus or a placebo for …

This study tests whether a wearable monitoring system (ECG patch, temperature patch, and pulse oximeter) can reduce major heart complications in hospitalized patients with heart disease. About 1500 adults will be monitored either with standard care (vital signs every 4-8 hours) o…

This study tests a stem cell transplant from a half-matched family donor for children and young adults with sickle cell disease. The goal is to control the disease while reducing serious side effects like graft-versus-host disease. Up to 45 participants will receive a special dru…

This study tests whether a wearable goggle system that makes parathyroid glands glow can help surgeons find and protect them during thyroid removal. About 280 adults having thyroid surgery will take part. The goal is to reduce the risk of low calcium levels after surgery, a commo…

This first-in-human trial tests a genetic drug called TS1-ASO in 5 children with Timothy Syndrome, a rare condition causing severe heart and brain problems. The drug is injected into the spine to target the genetic root of the disease. The main goal is to check safety and how the…

This early-stage study tests whether a focused ultrasound can safely and temporarily open the brain's protective barrier in people with early Alzheimer's disease. The goal is to see if this helps clear harmful amyloid and tau proteins that build up in the brain. Six participants …

This early-stage study tests a one-time gene therapy (CS-206) in 5 teenagers with severe sickle cell disease. The treatment uses the patient's own blood stem cells, modified with a gene-editing tool, to help produce healthy red blood cells. The goal is to reduce painful blockages…

This study will follow 100 adults with von Hippel-Lindau (VHL) disease who choose to take belzutifan. Researchers will track how well the drug shrinks tumors, its side effects, and its impact on quality of life and healthcare costs. The goal is to better understand the drug's rea…

This study tests whether low-dose radiation to the whole brain can slow down Alzheimer's disease in people with early-onset symptoms. Fifty participants will be randomly assigned to receive either the radiation treatment or a sham procedure. Researchers will track changes in memo…

This study tests whether bempedoic acid, a drug already approved for high cholesterol, can safely slow the progression of autosomal dominant polycystic kidney disease (ADPKD). About 120 adults with rapidly progressing ADPKD will receive either the drug or a placebo for two years.…

This study tests a new lab-made enzyme called NHS7108 in people with exocrine pancreatic insufficiency (EPI), a condition where the pancreas doesn't make enough enzymes to digest food. About 66 adults will take either NHS7108 or the standard enzyme Zenpep for 14 days each, while …

This phase 3 trial tests whether short-course radiation followed by chemotherapy and an immunotherapy drug (serplulimab) works better than standard long-course chemoradiation for high-risk locally advanced rectal cancer. 612 patients will be randomly assigned to one of the two tr…

This Phase 2 trial tests whether umbilical cord stem cells can safely improve movement and coordination in people with spinocerebellar ataxia (types 1, 2, 3, and 6). Forty-five participants will receive the cells through an IV and a spinal injection. The main goal is to see if sy…

This phase 2 trial tests the drug mirdametinib, alone or with radiation, in people with NF1-related high-grade gliomas (aggressive brain tumors). It includes three groups: those with recurrent sporadic glioblastoma, newly diagnosed NF1-associated glioblastoma, and other NF1-relat…

This early-stage trial tests a new treatment called AchromoPhage, a mix of four viruses that specifically kill Achromobacter bacteria, in 12 adults with cystic fibrosis and chronic lung infections. Participants will receive the treatment by inhalation, IV, or both over three week…

This study tests whether a drug called a PCSK9 inhibitor (Tafolecimab) can slow the progression of mild to moderate calcific aortic stenosis, a condition where the heart valve narrows and hardens. Researchers will give the drug to half of 160 participants and compare changes in v…

This early-stage trial tests a single injection of AXV-101 gene therapy into one eye of 12 children and teens (ages 4-17) with Bardet-Biedl syndrome type 1, a rare genetic condition that causes progressive vision loss. The main goal is to check safety and find the right dose, whi…

This pilot study tests whether a carefully supervised ketogenic diet can help people with Marfan syndrome who have a chronic aortic dissection avoid surgery for one year. Fifteen adults aged 18-50 will follow the diet with guidance from a dietitian, measure their blood ketones at…

This study will test 120 babies in Côte d'Ivoire for sickle cell disease using a simple point-of-care test. Babies who test positive will start comprehensive care early, including medicines and vaccines. Researchers want to see if this approach reduces serious health problems and…

This early-phase study tests an inhaled mRNA drug (BMD003) in 24 people aged 12 and older with cystic fibrosis. The goal is to see if it is safe and can improve lung function by delivering instructions to make a working CFTR protein. Participants will receive multiple doses and b…

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with Schuurs-Hoeijmakers syndrome, a rare genetic condition. The drug aims to correct a specific genetic mutation to improve communication and motor skills. Only one participant …

This early-stage trial tests whether stem cells and their exosomes (tiny particles that help cells communicate) can safely improve movement in people with spinocerebellar ataxia, a condition that affects coordination and balance. Ninety participants will receive the treatment thr…

This early-stage trial tests whether two cancer drugs, cabozantinib and selumetinib, can safely shrink plexiform neurofibromas in people aged 16 and older with neurofibromatosis type 1 (NF1). About 30 participants will receive the combination daily. The study first finds the safe…

This early study tests a gene therapy called KL003 in just 3 people with severe sickle cell disease. The therapy uses the patient's own stem cells, modified to produce healthy hemoglobin, to reduce painful crises and the need for transfusions. The main goals are to see if the tre…

This study tests giving an immunotherapy drug (pembrolizumab) before surgery to people with a specific type of colon cancer (dMMR). The goal is to see if the drug can shrink or eliminate the tumor so some patients may avoid surgery and instead be closely monitored. About 152 adul…

This early-phase trial tests a combination of three drugs—selumetinib, ZEN-3694, and durvalumab—in people with advanced sarcomas, including malignant peripheral nerve sheath tumors (MPNST) linked to NF1. The study first checks safety and dosing, then looks at whether the treatmen…

This study tests whether giving immunotherapy drugs (nivolumab with or without ipilimumab) or immunotherapy plus radiotherapy before surgery can improve outcomes for people with a specific genetic type of colorectal cancer called MSI-H/dMMR. About 114 participants will be randoml…

This early-phase study tests whether combining focused ultrasound with the immunotherapy drug pembrolizumab is safe and feasible for people with recurrent glioblastoma, a severe brain cancer. Only 8 participants with a specific genetic feature (mismatch repair deficiency) will be…

This study tests whether a 12-month diet low in salt, caffeine, protein, and carbs, but high in potassium and water, can slow kidney cyst growth in 30 adults with ADPKD. Participants are split into diet and regular diet groups. The goal is to see if the diet reduces cyst progress…

This study tests two immunotherapy drugs (iparomlimab and tuvonralimab) in 30 women with a specific type of endometrial cancer that is mismatch repair-deficient. The goal is to see if the treatment can make the cancer disappear or shrink enough to avoid surgery. Participants must…

This phase 2 trial tests two different drug combinations given before surgery for people with a specific type of stomach cancer (dMMR/MSI-H). Participants will receive the immunotherapy drug adebrelimab plus either chemotherapy or another immunotherapy drug (SHR-8068). The goal i…

This early-phase trial tests an oral drug called Trineumin (PRG-N-01) in 25 adults with neurofibromatosis type II (NF2), a genetic condition that causes non-cancerous tumors on nerves. The study has two parts: first finding a safe dose, then checking if that dose can shrink tumor…

This phase 2 trial tests a drug called Progerinin in up to 5 adults with Werner syndrome, a rare condition that causes premature aging and bone loss. Participants take the drug twice daily for about a year. The main goal is to check safety and tolerability, not yet to prove it wo…

This study tests whether a high dose of plerixafor can safely collect enough stem cells from people with sickle cell disease for a future transplant. Twelve patients aged 18-25 will receive the drug and have their stem cells collected through a process called apheresis. The goal …

This study tests whether a lower dose of the chemotherapy drug treosulfan, given before a stem cell transplant, can help people with Nijmegen breakage syndrome. The condition causes immune problems and a high risk of cancer. The trial will enroll 24 patients, giving a lower dose …

This study tests whether red blood cells processed to be low in oxygen (hypoxic) last longer in the body than standard cells for people with sickle cell anemia who need regular transfusions. About 48 participants aged 7 and older will receive both types of blood in a crossover de…

This early-phase trial tests a single injection of a gene therapy called GS1168 in 9 adults with PKU whose condition is not well controlled by diet or other treatments. The therapy uses a harmless virus to deliver a working copy of the PAH gene, which is faulty in PKU, to help th…

This phase 2 trial will test a combination of immunotherapy drugs and chemotherapy given before surgery for people with a specific genetic subtype of stomach cancer (dMMR/MSI-H). The study aims to see how well this approach clears the tumor and to understand why some patients do …

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

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

This study tests whether tamoxifen citrate, a drug commonly used for breast cancer, is safe and tolerable for adults with cystic fibrosis who cannot take current CFTR modulator drugs. Thirty-five participants will take one tablet daily for six months and visit the clinic every 28…

This early-stage study tests whether adding specially-made viruses (phages) to standard antibiotics can safely treat stubborn lung infections in adults with cystic fibrosis. About 30 participants will receive a 7-day course of both treatments. The main goal is to check safety, bu…

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 early-phase trial will test a single dose of a new drug called YOLT-204 in 18 children and teens with transfusion-dependent β-thalassemia or sickle cell disease. The goal is to see if it is safe and can raise fetal hemoglobin levels enough to reduce the need for blood transf…

This study tests whether a swallowable capsule camera (colon capsule endoscopy) can effectively screen for colorectal cancer in people with Lynch syndrome, a genetic condition that greatly increases cancer risk. Researchers will compare the capsule's ability to find polyps and ot…

This study will test a new device called PheCheck™ that measures phenylalanine levels from a single fingerstick drop of blood. About 60 people with PKU or hyperphenylalaninemia, aged 1 year and older, will use the test at home and compare results to standard lab testing. The goal…

This study will enroll 5000 adults to see if a one-minute, single-lead ECG, analyzed by machine learning, can detect heart conditions like high blood pressure, heart failure, and diabetes. Participants will have their ECG recorded twice and compared with full medical exams. The g…

This study tests whether a simple saliva swab can find genetic causes of neurodevelopmental or intellectual disorders when standard blood tests have not. Researchers will use advanced DNA sequencing on cheek cells from 50 participants. The goal is to improve diagnosis and help gu…

This study will test a new device called the micro Sweat Test Patch (µSTP) that measures chloride levels in sweat to help diagnose and monitor cystic fibrosis (CF). Researchers will compare the new patch to the standard sweat test in 300 newborns, children, and adults with CF. Th…

This study aims to develop a more accurate test for cystic fibrosis (CF) using lab-grown mini organs called organoids, made from a small piece of gut tissue. The researchers will compare this new test with current methods like sweat tests and genetic testing in 80 people who are …

This study tests whether annual liquid biopsies (from blood, urine, stool, and vaginal swabs) can safely replace colonoscopies every 18 months for people with Lynch syndrome. 2,000 participants will be split into two groups: one gets standard care (colonoscopy every 18 months), t…

This study compares a new DNA sequencing platform (MGI) against the current standard (Illumina) for diagnosing hereditary cancers like breast and ovarian cancer, Lynch syndrome, and intestinal polyposis. Researchers will analyze 248 patient samples using both platforms to see if …

This phase III trial tests whether a vaccine made from a person's own immune cells can prevent cancer in 372 adults with Lynch syndrome, a genetic condition that raises cancer risk. Participants receive either the vaccine or a placebo and are monitored for tumor development. The …

This early-phase trial tests a personalized vaccine made from a person's own immune cells (dendritic cells) loaded with cancer-specific markers. The goal is to train the immune system to recognize and destroy precancerous cells in people with Lynch syndrome, who have a high risk …

This study will test whether a 4-week daily music therapy app can reduce chronic pain and improve quality of life in 25 youth with sickle cell disease. Participants will either use the app or receive standard educational materials. Researchers will also look at changes in immune …

This study explores whether using a virtual reality headset can help reduce pain for adults with sickle cell disease during a painful crisis. Participants will try different types of headset experiences—like watching a 2D video or exploring a 3D world—during their infusion center…

This study tests a virtual reality app called Amani designed to help adults with sickle cell disease manage pain, emotional distress, and social isolation. Researchers will enroll 40 adults to see if the app is easy to use and helpful for improving coping skills and peer support.…

This study tests a drug called N-acetyl-L-leucine for people aged 4 and older with CACNA1A gene disorders, which can cause coordination problems, dizziness, and migraines. About 60 participants will receive either the drug or a placebo, then switch, to see if it improves movement…

This study looks at whether adding a continuous saltwater mist to warm, humidified air can make thick lung mucus easier to clear. 35 adults hospitalized with lung conditions like COPD or cystic fibrosis will receive both treatments on separate days. Researchers will measure mucus…

This study tests whether minocycline, an antibiotic that reduces brain inflammation, can safely prevent or reverse memory and thinking problems in adults with sickle cell disease. About 30 participants will take either a low dose, high dose, or placebo for one year. Researchers w…

This study will test whether eating flaxseed, a source of omega-3 fatty acids, can help reduce pain and improve daily life for children with sickle cell disease. Twenty children aged 5 to 18 will take part. The main goal is to see if it's possible for them to eat flaxseed regular…

This study tests whether adding exercise training to a standard chest-vibration vest (HFCWO) helps people with cystic fibrosis clear mucus, cough less, and walk farther. Twenty-four adults aged 16–35 will either get the vest plus exercise or the vest alone for 8 weeks. The goal i…

This study tests whether an 8-week tele-rehabilitation program can improve muscle mass, reduce frailty, and enhance quality of life in adults with cystic fibrosis. Participants will do supervised exercise sessions at home via video calls three times a week. The goal is to see if …

This study tests if iloprost, a drug that widens blood vessels and reduces inflammation, can help adults with sickle cell disease during painful vaso-occlusive crises. About 144 participants hospitalized for a crisis will receive either iloprost or a placebo, plus standard care. …

This study tests whether giving ketamine within an hour of pain onset can prevent hospital admission for children and young adults with sickle cell disease. 90 participants aged 6-24 will receive either ketamine or a placebo by mouth. If admitted, they can still receive standard …

This study looks at whether doing aerobic exercise at home, with or without the drug omaveloxolone, can safely improve fatigue and heart-lung fitness in people with Friedreich's ataxia. About 30 adults with the condition will take part. The goal is to see if the combination helps…

This study tests whether adding lidocaine, a numbing medicine, to standard pain treatment can lower the amount of strong opioids needed during severe sickle cell pain crises. About 104 adults with sickle cell disease who are in the intensive care unit for a pain crisis will take …

This study compares two types of nipple-sparing mastectomy: one done with a robotic arm through a small side incision, and the standard open surgery. Researchers want to see if the robotic method improves women's satisfaction, body image, and recovery over 12 months. The trial wi…

This study tests whether awake prone positioning (lying on the stomach while awake) can help sickle cell patients with severe acute chest syndrome in the ICU. The approach aims to improve oxygen levels and breathing by evening out air flow in the lungs. Fifteen adults will be enr…

This study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…

This study tests whether a computer simulation can help pharmacists and pharmacy students better understand the pain struggles of sickle cell disease patients. About 200 healthcare professionals will use a point-of-view simulation and then complete surveys to see if their misconc…

This observational study will measure thyroid hormone levels in stored blood and urine samples from 51 people with severe chronic kidney disease (stages 4 and 5). Researchers aim to understand how these hormones differ in patients with and without polycystic kidney disease. The s…

This study will enroll 200 children with cystic fibrosis (100 Hispanic, 100 non-Hispanic white) to measure indoor and outdoor air pollution and see how it relates to lung function, inflammation, and airway bacteria. Researchers hope to understand why Hispanic children often have …

This study tests an online tool called 'Let's Talk' designed to help people with Lynch syndrome encourage their relatives to get screened for the condition. Lynch syndrome is a genetic disorder that raises cancer risk, and only about half of close relatives currently get tested. …

This study follows people with chronic lung diseases like bronchiectasis, cystic fibrosis, and COPD to understand how bacteria become resistant to antibiotics. Researchers will collect samples and health data over time to map resistance patterns and genetic causes. The goal is to…

This study tests whether shining a special light on the head (transcranial photobiomodulation) can improve oxygen use and thinking skills in children with sickle cell disease. The brain needs steady oxygen, but sickle cell can reduce blood flow. Researchers will randomly assign 6…

This study looks at whether a tumor's DNA repair status (MMR) changes how well the presence of cancer cells in lymph vessels predicts spread to lymph nodes in stomach cancer. Researchers will review medical records of 3,000 patients who had surgery. The goal is to improve risk as…

This study will collect blood samples and medical information from 600 adults with rare diseases affecting blood vessels in the brain and eye, such as CADASIL and cavernous angioma. The goal is to create a long-term biobank that researchers can use to find biomarkers and better u…

This study looks at 150 people with persistent atrial fibrillation (a type of irregular heartbeat) who are scheduled for a heart procedure called ablation. Researchers want to see if levels of a protein called BDNF in the blood are linked to signs of heart muscle damage (atrial c…

This study looks at whether mindfulness-based stress reduction can help Black teenage girls who have been involved with the justice system and their parents or caregivers. About 90 participants will report on stress, PTSD symptoms, and other outcomes before and after the program.…

This study will look at medical records of 350 children with sickle cell disease in France who had serious bacterial infections between 2020 and 2025. The goal is to find out which bacteria are causing these infections today, especially with new vaccines available. The results co…

This study will measure leg and handgrip strength in about 2,800 healthy adults and people with chronic lung diseases across Spain, Portugal, and Italy. Researchers want to create normal muscle strength values for these populations and see if the same standards can apply to peopl…

Denys-Drash syndrome is a rare genetic condition that causes kidney failure in early childhood, often requiring a transplant. Past research suggests these children have a much higher chance of developing a type of lymphoma after transplant compared to other kids. This study will …

This study will check if people with Lynch syndrome, a genetic condition that raises cancer risk, have more gum disease than the general population. Researchers will look at dental records from 25 adults with Lynch syndrome. The goal is to see if gum disease is a hidden health is…

This study tests a web-based program called Kindred that helps African American families understand their genetic cancer risk and talk about testing. About 150 people will use the tool to see if it improves knowledge and testing rates. The goal is to make genetic information more…

This study looks at how young children with neurofibromatosis type 1 (NF1) walk, to see if simple walking tests can help doctors spot and predict movement problems early. Researchers will measure walking speed and other skills in 56 children under 6 years old. The goal is to crea…

This study looks at 128 adults having gallbladder surgery to see if using a low-flow (more eco-friendly) versus normal-flow sevoflurane anesthesia changes heart electrical signals linked to dangerous rhythms. Researchers will measure these signals before, during, and after surger…

This early-stage study tests how a new drug called JMKX003142 interacts with other common medications in 112 healthy Chinese adults. The drug is being developed for autosomal dominant polycystic kidney disease (ADPKD). Researchers will measure how the body processes JMKX003142 wh…

This study tests a program to help people with inherited cancer gene mutations (like BRCA or Lynch syndrome) stick to recommended cancer screening schedules. Researchers will interview 80 female participants and provide standard care to see if this approach improves adherence and…

This study looks at how genetic differences affect the way Nigerian sickle cell patients respond to hydroxyurea, a common treatment. Researchers will monitor 100 patients to build a computer model that predicts the best dose for each person. The goal is to reduce side effects and…

This study tests a 90-minute virtual training for healthcare providers that teaches them to see each patient's unique perspective and communicate more clearly. The goal is to improve how doctors talk to children with sickle cell disease. Thirty providers from three hospitals will…

This study looks at whether a quick, non-invasive breathing test called impulse oscillometry (IOS) can help doctors find the right pressure settings for sleep apnea machines. Currently, patients often need an overnight sleep study to determine the correct pressure. The study will…

This study looks at whether re-sterilized (reprocessed) catheters work as well as new ones for heart ablation procedures. About 200 adults needing this treatment will be randomly assigned to get either a new or a reprocessed catheter. Researchers will compare how long the procedu…

This study looks at the teeth, mouth, and face health of 25 people with Mowat-Wilson syndrome, a rare genetic condition. Researchers will check for cavities, gum disease, and facial features, and ask about quality of life. No treatment is given—the goal is to gather information t…

This study looks at the blood immune cells of 10 adults with a rare inherited skin condition called NIPAL4 ichthyosis. Researchers want to understand why three patients with this skin disease also developed a very rare lymphoma (Sezary syndrome). By describing the normal immune c…

This study looks at how hereditary hemorrhagic telangiectasia (HHT) affects the quality of life of children and young adults aged 2 to 25. Participants will fill out questionnaires about their physical, emotional, and social well-being. Researchers will also review medical record…

This early-stage study checks whether a single dose of JMKX003142 affects the heart's electrical activity in 24 healthy Chinese adults. Participants will be randomly assigned to receive the drug or a placebo. The goal is to see if the drug causes any changes in heart rhythm, not …

This study looks at how different types of anemia—like iron deficiency or thalassemia—can change HbA1c levels, a common test for diabetes, in people who do not have diabetes. Researchers will compare HbA1c results between 100 non-diabetic adults with various anemias and a healthy…

This phase 1 trial will enroll 8 healthy Chinese men to study how the experimental drug JMKX003142 is absorbed, broken down, and eliminated from the body. Participants will receive the drug in both pill and IV forms, some with a radioactive tracer. The study aims to measure the d…

This study explores whether MRI can produce clear images of the lungs and airways in people with cystic fibrosis (CF) and healthy volunteers. Researchers will use computer assistance to measure airway size and shape, and repeat the MRI two years later to see if changes occur. A s…

This study is creating a European registry for people with idiopathic granulomatous mastitis (IGM), a rare inflammatory breast condition that causes pain, redness, and abscesses. Researchers will collect information from 1,000 participants to better understand symptoms, treatment…

This observational study will follow 50 children aged 5 to 8 with non-progressive congenital ataxia, a rare condition that affects movement and coordination. Researchers will use detailed exams, brain scans, and genetic testing to better understand the disorder and its impact on …

This study will look at 118 adults with Marfan syndrome to understand why they may not be physically active. Researchers will measure factors like fear of movement, fatigue, pain, and heart health. The goal is to identify what predicts low activity levels, which could help improv…

This study looks at how blood phenylalanine (Phe) levels affect thinking, emotions, and daily functioning in adults with PKU. Researchers will ask 30 adults with PKU and their relatives to complete questionnaires. The goal is to understand why some people with high Phe levels hav…

This study looks at how cystic fibrosis medications (CFTR modulators) change in the body during pregnancy and after childbirth in 30 women. Researchers will measure drug levels in blood, breast milk, and umbilical cord blood. The goal is to understand how these drugs work in preg…

This study looks at how energy production inside cells (mitochondria) works in people with cystinosis, a rare disease that causes cystine buildup and early aging. Researchers will measure cell energy activity in 25 patients and compare it to healthy people. The goal is to underst…

This study aims to find biological markers (biomarkers) in blood, tears, and eye cells from 110 adults with seven rare eye diseases. Researchers will compare these markers between patients and healthy controls to see if they differ and if they relate to disease symptoms. The goal…

This study will review medical records of 25 children with sickle cell disease to see how often they experience painful vaso-occlusive crises and what complications arise. Researchers hope to identify risk factors that could lead to better care. No new treatments are being tested…

This study will follow 1,100 people with atrial fibrillation who have a pulsed field ablation procedure. The goal is to find out which patient traits and procedure details make a repeat ablation more likely. Researchers will track heart rhythm problems and side effects for one ye…

This early-stage study tests how a new drug called JMKX003142 interacts with two common medications—amiodarone (for heart rhythm) and febuxostat (for gout)—in 48 healthy Chinese adults. Participants will take the drugs in sequence to measure how their bodies process them. The goa…

This study will look at 35 children with joint problems that are not caused by inflammation, such as stiffness or deformity. Researchers will use exams, lab tests, and imaging to find the true cause, which could be rare genetic conditions like mucopolysaccharidoses or osteogenesi…

This study examines how regular blood transfusions (exchange transfusions) affect thinking speed in adults with severe sickle cell disease. Researchers will test 85 participants remotely using a simple symbol-matching task and other cognitive assessments at different points in th…

This study will review medical records of 150 people with Marfan syndrome or Ehlers-Danlos syndrome to understand bone mineralization and fracture risk. Researchers will look at past bone density scans and health data to see how bone health changes over time. The goal is to learn…