Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease84
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy36
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)29
Leading sponsors
- Assistance Publique - Hôpitaux de Paris57
- Mayo Clinic39
- Boston Children's Hospital38
- National Institute of Allergy and Infectious Diseases (NIAID)38
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Children's Hospital Medical Center, Cincinnati31
- Hospices Civils de Lyon29
- Children's Hospital of Philadelphia23
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
Where studies are running
- California325
- Maryland160
- Alabama133
- Massachusetts107
- Arizona88
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT07554924RecruitingPhase 1/Phase 2
Gene therapy for newly diagnosed spinal muscular atrophy type I infants
This study tests SKG0201, a new gene therapy designed to treat spinal muscular atrophy type I (SMA type I), a rare genetic condition affecting muscle strength. The trial enrolls very young infants diagnosed with SMA type I to see if the treatment is safe and helps improve muscle function.
Beijing, Beijing MunicipalityAges Up to 6 months - NCT07555483RecruitingPhase 3
Weekly injection vs IV infusion for alpha-1 antitrypsin deficiency
This trial tests whether a new weekly injection form of alpha-1 antitrypsin replacement therapy (a protein your body lacks) works as well as the standard IV infusion you may currently receive. The goal is to offer a more convenient treatment option for people with alpha-1 antitrypsin deficiency (a genetic lung condition).
Birmingham, AlabamaAges 18–80 - NCT07557446RecruitingPhase 2
Testing AGA2115 for Osteogenesis Imperfecta in Chinese Patients
This study tests a new medicine called AGA2115 in adults and teenagers with osteogenesis imperfecta (brittle bone disease). The trial aims to find the right dose and see if it can strengthen bones and reduce fracture risk.
Beijing, Beijing MunicipalityAges 12–75 - NCT07559175RecruitingPhase 2
A new enzyme treatment for pancreatic insufficiency
This study tests a new pancreatic enzyme medicine (called NHS7108) for people with exocrine pancreatic insufficiency (EPI). EPI means your pancreas doesn't make enough enzymes to break down food properly. The study aims to see if this new medicine is safe and works well to help your body absorb nutrients.
Scottsdale, ArizonaAges 18–85 - NCT04817462Recruiting
Liver biopsy in people with haemophilia gene therapy
This study takes a small liver tissue sample (a liver biopsy) in men who previously received haemophilia gene therapy. The goal is to learn more about how the gene therapy works and how safe it is for the liver.
LondonAges 18–80 - NCT07550218Recruiting
Surfactant Delivery Methods for Premature Babies with Breathing Problems
This study looks at different ways doctors give a life-saving medication called surfactant to premature babies who are struggling to breathe. Researchers want to understand which delivery methods work best and help improve care.
GothenburgAges Any age - NCT07544862Recruiting
Stapokibart injection for atopic dermatitis in adults
This study tests a new injection medicine called Stapokibart for treating atopic dermatitis (a chronic skin condition causing itching and inflammation). Your doctor has already decided this medicine might help you before you joined the study.
Beijing, Beijing MunicipalityAges 18 years+ - NCT07543731Recruiting
Study of how patients stick with cholesterol-lowering injection medications
This study follows people who are starting one of three injectable cholesterol medications (inclisiran, evolocumab, or alirocumab) to see how well they stick with treatment over time. Understanding medication adherence helps doctors and patients find ways to improve long-term health outcomes.
BaselAges 18–99 - NCT07543302Enrolling by invitation
Can Ear Nerve Stimulation Reduce Inflammation in Duchenne Muscular Dystrophy?
This trial tests whether gently stimulating a nerve in the ear can lower inflammation levels in boys with Duchenne muscular dystrophy (DMD). The goal is to see if this non-invasive approach might help slow disease progression or ease symptoms.
StockholmAges 5–17 - NCT07545395RecruitingPhase 3
Safety study of KN057 blood clot prevention in hemophilia
This study tests whether KN057, a new preventive medicine, is safe for males with hemophilia A or B. It aims to help prevent bleeding episodes without causing unwanted blood clots.
Tianjin, Tianjin MunicipalityAges 12–65 - NCT07548944Recruiting
How Electrical Stimulation Affects Your Vision
This study watches how a treatment called transcorneal electrical stimulation (TES)—which uses gentle electrical pulses on your eye—affects your vision in the short term. You'll be observed while using the OkuStim device, and researchers will ask about any improvements you notice in your sight.
Frankfurt am MainAges 18 years+ - NCT07543991RecruitingPhase 1
Gene therapy for giant axonal neuropathy via vagus nerve
This is a follow-up study for patients who previously received an experimental gene therapy (scAAV9/JeT-GAN) for giant axonal neuropathy (GAN), a rare genetic nerve disorder. The new treatment delivers the therapy directly into the vagus nerve—a major nerve in the neck—to help manage nerve damage and related symptoms.
Dallas, TexasAges 10–25 - NCT07549295Enrolling by invitationPhase 1
Melatonin to help babies grow better in the womb
This study tests whether melatonin (a natural sleep hormone) can help babies who are not growing well in the womb due to placental blood-flow problems. Researchers will measure if melatonin improves the baby's growth and health before delivery.
Shanghai, Shanghai MunicipalityAges 20–43 - NCT07543016Recruiting
Amino Acids and Exercise for FSHD Muscle Weakness
This study tests whether amino acid supplements combined with exercise can help people with FSHD (a genetic muscle disease) build strength and reduce fatigue. Researchers will compare participants who receive amino acids plus exercise training to a control group.
Voghera, PaviaAges 18–50 - NCT07545473Recruiting
Eye Imaging to Detect Brain Disease Markers
This study uses a special camera to photograph the back of your eye in detail. Researchers believe changes in the eye may reflect brain diseases like Alzheimer's or Parkinson's, and this imaging could help detect these conditions earlier.
Melbourne, VictoriaAges 30 years+ - NCT07547696Recruiting
Preventing Alcohol-Related Pregnancy Risks for Native American Women
This study tests a smartphone-based program designed to help Native American women reduce risks related to alcohol use and unintended pregnancy. The program aims to provide personalized support and information through a mobile app you can access daily.
Charlottesville, VirginiaAges 18–44 - NCT07547930RecruitingPhase 2
Tofacitinib for Steroid-Resistant Thyroid Eye Disease
This study tests whether tofacitinib, a new type of immune-modulating medication, can help people with moderate-to-severe thyroid eye disease (Graves' orbitopathy) whose eyes haven't improved with standard steroid treatments. The goal is to reduce eye swelling, bulging, and inflammation that affects daily life.
Xiamen, FujianAges 18–75 - NCT06728228Recruiting
Amnioinfusion for fetal kidney failure
This trial is testing whether adding fluid back into the womb (amnioinfusion) can help babies whose kidneys are not working and who have no amniotic fluid early in pregnancy. It may improve the baby's chances of survival and lung development.
Dallas, TexasAges Any age - NCT07541209RecruitingPhase 1/Phase 2
Safety and Efficacy of PTH-IA for Rare Genetic Bone Disorder
This trial tests a new medication called PTH-IA for people with a specific genetic mutation affecting the parathyroid hormone receptor. The study aims to see if the medication is safe and can help improve bone health in children and adults with this rare condition.
Bethesda, MarylandAges 3–100 - NCT07535034RecruitingPhase 2
Testing Dotinurad for Gout in People Who Can't Take Other Medications
This trial tests a new drug called dotinurad for gout patients whose standard medications either don't work or cause side effects. Dotinurad works differently by helping your body get rid of uric acid (the substance that causes gout attacks), and the study will see if it safely lowers uric acid levels.
Birmingham, AlabamaAges 18–75 - NCT07537075Enrolling by invitationPhase 2/Phase 3
Continuing SKY-0515 treatment for Huntington's disease
This is a follow-up study for people with Huntington's disease who already completed an earlier SKY-0515 trial and tolerated it well. Researchers want to see how safe and effective the drug continues to be with longer-term use.
New Lambton Heights, New South WalesAges 25 years+ - NCT07540572RecruitingPhase 1
Testing IDE574 safety and effectiveness in advanced solid tumors
This early-stage trial tests a new drug called IDE574 to see if it is safe and effective in treating advanced cancers that have spread or stopped responding to standard treatments. The trial focuses mainly on hormone-receptor positive breast cancer, but also includes lung, prostate, and colorectal cancers.
Plantation, FloridaAges 18–99 - NCT07538583RecruitingPhase 2/Phase 3
QRX003 Lotion for Netherton Syndrome
This study tests a new lotion (QRX003) designed to treat Netherton Syndrome, a rare genetic skin condition. The lotion is applied to affected skin areas to see if it can reduce symptoms and improve skin health.
Fremont, CaliforniaAges 4 years+ - NCT07536269RecruitingPhase 2
Safety study of crinecerfont for very young children with CAH
This study tests a new medicine called crinecerfont in children under 4 years old with classic congenital adrenal hyperplasia (CAH), a condition where the body doesn't make certain hormones properly. Researchers want to learn if the medicine is safe and how it works in the body.
San Francisco, CaliforniaAges 3 months–3.9 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,456 we cover in this area in total.
- What does “Genetic & congenital” cover here?
- Inherited and congenital conditions present from birth or written into the genes. We group each study into genetic & congenital based on the conditions it studies, so you can scan the whole therapeutic area at once and drill into a specific condition.
- How do I find a genetic & congenital trial near me?
- Use the search to filter genetic & congenital studies by location and eligibility. Every Clin2 trial page explains the criteria in plain English and offers a short, optional pre-screen for a fit read — the study team makes the final decision.
Other specialties
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov; specialty groupings are derived from each study’s conditions. Talk with your doctor about whether a specific trial is right for you.