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
- 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 - NCT07535385Recruiting
Kidney Artery Blocking Treatment for Polycystic Kidney Disease
This study follows patients with a genetic kidney disease (autosomal dominant polycystic kidney disease) who are on dialysis and receive a procedure to block blood flow to their enlarged kidneys. Researchers will track how well the procedure works and how it affects patients over time using imaging scans.
Pavia, LombardyAges 18–75 - NCT07535372Recruiting
Gene therapy study for babies with fused skull bones
This study tests a new treatment called ASO (antisense oligonucleotide) therapy on tissue samples from babies with syndromic craniosynostosis—a condition where skull bones fuse too early due to specific genetic changes. Researchers hope this approach could eventually help prevent or reduce the severity of this condition.
RomeAges Up to 5 years - NCT07539012Recruiting
Corneal Membrane Polishing for Fuchs Eye Disease
This trial tests a surgical technique called Descemet membrane polishing during corneal transplant surgery for Fuchs endothelial corneal dystrophy, a condition that clouds the cornea (the clear front part of your eye). The study aims to see if this polishing step improves healing and vision after surgery.
Saint-Etienne, FranceAges 18 years+ - NCT07535203Recruiting
Heart Surgery Outcomes in Single-Ventricle Disease
This study follows children with a rare heart condition (univentricular heart) who need multiple surgeries, including a procedure called Fontan. Researchers want to understand how different blood-flow patterns after surgery affect long-term health and outcomes.
Jakarta, DKI JakartaAges Any age - NCT06748248Recruiting
Suspension therapy for mobility and balance in Down syndrome
This trial tests if suspension therapy (a type of physical therapy using supportive straps or harnesses) can help children with Down syndrome improve their ability to move and keep their balance. It may be a helpful option for children who can already stand and walk but want to get stronger and more stable.
Lahore, Punjab ProvinceAges 3–6 - NCT07527715Recruiting
Heart MRI Study for Dilated Heart Muscle Disease
This research uses cardiac MRI scans and patient data to better predict outcomes in people with dilated cardiomyopathy—a condition where the heart's main pumping chamber becomes enlarged and weakened. Participating could help doctors improve how they care for similar patients in the future.
Jinan, ShandongAges 18 years+ - NCT07531251RecruitingPhase 4
Barth Syndrome Heart Treatment Study
This trial tests a medicine called elamipretide (4TAZ) in boys with Barth Syndrome, a genetic condition affecting the heart and muscles. The goal is to see if this medicine can help improve heart function and how the body uses energy.
Needham, MassachusettsAges 5–55 - NCT07527975Enrolling by invitation
Long-term safety and benefit check-up for RP-L102 gene therapy
This is a follow-up study for patients who previously received RP-L102, an experimental gene therapy designed to treat Fanconi anemia by fixing a faulty gene. The study tracks how well the treatment continues to work and watches for any long-term side effects.
Palo Alto, CaliforniaAges Any age - NCT07531511Recruiting
Understanding SLC6A1 Genetic Disorder in Children
This study tracks how children with SLC6A1 genetic mutations develop over time. Researchers will collect information about seizures, development, and daily functioning to better understand the condition and help guide future treatments.
New York, New YorkAges Up to 17 years - NCT07527923RecruitingPhase 1
Testing REGN20423 for healthy people and atopic dermatitis
This early-stage trial tests a new experimental medicine called REGN20423 in two groups: healthy volunteers and people with atopic dermatitis (a chronic skin condition causing itching and inflammation). The trial aims to assess whether the medicine is safe and well-tolerated.
Birmingham, AlabamaAges 18–65 - NCT07525505Recruiting
Nigella Sativa Oil for Itchy, Inflamed Ear Canal
This trial tests whether Nigella sativa (black seed) oil can safely treat eczematous otitis externa—a condition causing itching, discomfort, and drainage in the ear canal. Researchers want to see if this natural oil works as well as standard treatments.
Istanbul, FatihAges 18 years+ - NCT07527104Recruiting
Bone marrow cells and rehabilitation for cerebral palsy in young children
This trial tests whether transplanting cells from a child's own bone marrow, combined with rehabilitation therapy, can improve movement and function in young children with cerebral palsy caused by birth-related brain injury or bleeding. The goal is to see if this approach helps children move better and become more independent.
Hanoi, HanoiAges 6 months–18 years - NCT07530354Recruiting
Understanding Body Changes After Bile Duct Surgery in Children
This study follows children who have had bile duct (biliary tract) surgery to understand how their bodies change and adapt afterward. Researchers compare them with healthy children to learn what is normal and help improve care.
Wuhan, HubeiAges Up to 16 years - NCT07527624Recruiting
Study of work and social inclusion for young adults with rare genetic conditions
This study looks at how young adults aged 15–25 with rare genetic conditions (like certain bone, skin, hearing, or facial conditions) are doing in school, work, and social life. Researchers want to understand what helps or prevents young people with these conditions from being included in their communities.
Paris, Île-de-France RegionAges 15–25 - NCT05610878RecruitingPhase 1
Stem cell help to improve fat grafting results
This early-phase study tests whether “preconditioned” stem cells from fat tissue can improve the look of fat transferred during liposuction and grafting. If you qualify, you may receive stem cells along with fat grafting to see how well it works and how safe it is.
Lahore, Punjab ProvinceAges 18–50 - NCT06673290RecruitingPhase 2/Phase 3
Testing different doses of sirolimus for cystic lymphatic malformations
This trial tests different doses of sirolimus (a medication that slows cell growth) to find the best dose for treating cystic lymphatic malformations in children. It may help shrink the abnormal fluid-filled growths and improve symptoms.
Chengdu, SichuanAges 1–18 - NCT06749639RecruitingEarly Phase 1
Gene therapy trial for RDH12-related eye disease
This trial tests an injection called PUMCH-E101 for people with vision loss caused by changes in the RDH12 gene. The goal is to see if it is safe and if it can help improve vision.
Beijing, Beijing MunicipalityAges 8–45 - NCT06754423Recruiting
Registry for men with CAH (21-hydroxylase deficiency)
This trial is creating a registry to track adult males with congenital adrenal hyperplasia (CAH) from 21-hydroxylase deficiency. It helps doctors learn more about the condition and how it changes over time.
BolognaAges 18 years+ - NCT06755138Recruiting
Scoliosis, pain, and quality of life in Duchenne muscular dystrophy
This study looks at how scoliosis (curved spine) and back pain affect daily life in people with Duchenne muscular dystrophy. Researchers will measure muscle strength and compensation patterns to understand these links.
SeoulAges 11–30 - NCT06755775Recruiting
PET scan to predict immunotherapy success in DLBCL
This trial uses a special PET scan to see if a protein called Granzyme B can predict how well immunotherapy will work for people with DLBCL. It aims to help doctors know earlier if treatment is effective.
ShanghaiAges 18 years+ - NCT07524998Recruiting
Surgery outcomes for complex heart defects across ages
This study tracks how children and adults with complex heart defects fare after surgery. Researchers want to understand what surgical techniques work best at different ages and how patients recover long-term.
BeijingAges Any age - NCT07517250Recruiting
Study of Canakinumab for Fever and Joint Disease
This is a study looking back at patients who were already treated with a medicine called canakinumab for familial Mediterranean fever or Still's disease (rare conditions that cause fevers and joint pain). Researchers want to understand how well this medicine worked over time and what happened to patients who took it.
BaselAges 1 year+ - NCT07523581RecruitingPhase 2
Study of an experimental drug for Alport syndrome
This study tests an experimental medicine for people with Alport syndrome caused by a specific type of gene change (nonsense mutation). The drug may help reduce protein in the urine and slow kidney decline. It is a blinded study, so you won't know if you get the real drug or a placebo.
Los Angeles, CaliforniaAges 12 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.