Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,767 recruiting studies in this area right now.
By phase
- Not applicable2,684
- Phase 2280
- Phase 1241
- Phase 3210
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)38
- 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
- California324
- Maryland160
- Alabama133
- Massachusetts108
- Arizona87
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,767 total
- NCT04962867RecruitingPhase 2
Targeting FGFR changes in advanced, hard-to-treat cancers
This Phase 2 study tests a treatment aimed at specific FGFR (a cancer-growth signal) changes found in your tumor. It may help people whose cancer has spread, cannot be removed, or has stopped responding to standard treatment.
Chuo-ku, Tokyo, JapanAges 20 years+ - NCT05821972RecruitingPhase 4
Breathing-mist medicines for cleft palate surgery pain control
This trial tests whether a breathing mist of two medicines (dexmedetomidine plus ketamine) works better than dexmedetomidine alone during cleft palate repair surgery. It may help improve comfort and safety around anesthesia for eligible patients.
AsyutAges 1–4 - NCT06185673RecruitingPhase 1/Phase 2
Gene therapy trial for OPMD with swallowing problems
This trial tests an experimental gene therapy (BB-301) for people with OPMD who have trouble swallowing. It involves a one-time injection into the throat muscles during a short surgery, and researchers will check if it is safe and improves swallowing.
New York, New YorkAges Up to 65 years - NCT06192576Recruiting
Long-term safety study of olipudase alfa in children under 2 with ASMD
This study looks at the long-term safety and effects of olipudase alfa in children under 2 years old with acid sphingomyelinase deficiency (ASMD), a rare genetic condition. It aims to see how the treatment works over time and if it is safe for young children.
Chicago, IllinoisAges Up to 2 years - NCT06198712RecruitingPhase 2
Testing etavopivat in children with sickle cell disease
This trial tests a new drug, etavopivat, to see how it works in children with sickle cell disease. It may help reduce painful crises and other complications.
Toronto, OntarioAges 6 months–18 years - NCT06193928Recruiting
Long-term safety study of Livmarli in ALGS or PFIC
This study is following patients who are already taking Livmarli (maralixibat) for Alagille syndrome or PFIC to see how safe and effective it is over the long term.
Los Angeles, CaliforniaAges Any age - NCT06192563Recruiting
Dupilumab for severe eczema with limited skin rash
This study looks at how well dupilumab works for children and teens with severe eczema (atopic dermatitis) even when the rash is not widespread. It aims to see if the treatment helps with itching, quality of life, and rashes in visible or sensitive areas.
BolognaAges 6 months–17 years - NCT06194305RecruitingPhase 2
Brain and behavior study of tic therapy for kids
This study tests a behavioral therapy (CBIT) for children with tics. It uses brain scans (MRI and EEG) to see how the therapy works. It may be a good fit for a child who has had tics for at least a year and hasn't had much of this therapy before.
San Diego, CaliforniaAges 10–17 - NCT06203873Recruiting
Comparing biodegradable vs. metal heart-hole closures for migraine
This trial compares two types of devices (biodegradable vs. metal) to close a small hole in the heart (PFO) in people who have migraine not controlled by usual treatments. It aims to see which device works better to reduce migraine attacks.
Beijing, Beijing MunicipalityAges 18–65 - NCT06189092Recruiting
Electrosclerotherapy for low-flow venous malformations
This study is testing a treatment called electrosclerotherapy for low-flow venous malformations. It uses a medicine (bleomycin) injected into the abnormal blood vessels to shrink them. The goal is to see how well it works and how safe it is.
Bologna, Emilia-RomagnaAges 16 years+ - NCT06190626Recruiting
A study of eye disease in Zellweger spectrum disorder over time
This study follows people with Zellweger spectrum disorder (ZSD) to understand how their eye condition develops over time. It aims to help doctors treat the disease better in the future.
Rochester, New YorkAges Any age - NCT06188741RecruitingPhase 2
Selumetinib to prevent tumor growth in NF1 children
This study tests whether the drug selumetinib can prevent the growth of plexiform neurofibromas (nerve tumors) in young children with NF1. Children are first monitored with MRI scans, and if a tumor appears or grows, they may receive treatment.
Birmingham, AlabamaAges 1–8 - NCT06205095RecruitingPhase 3
Wilate for heavy menstrual bleeding in von Willebrand disease
This trial tests whether a medicine called Wilate, given regularly (prophylaxis), can reduce heavy menstrual bleeding in women with von Willebrand disease. It compares Wilate to a placebo (a dummy treatment) to see if it helps more than no treatment.
Kingston, OntarioAges 18 years+ - NCT06197165Recruiting
Shiatsu for amyloidosis symptoms and quality of life
This study tests whether shiatsu (a gentle Japanese touch therapy) can improve symptoms and quality of life for people with amyloidosis. If you have a bothersome symptom like pain, shortness of breath, or anxiety, this trial may help you feel better.
CréteilAges 18 years+ - NCT06184126Recruiting
Virtual reality for sickle cell pain in the emergency room
This trial tests whether using a virtual reality (VR) headset, along with your usual pain treatment, can help reduce pain during a sickle cell crisis. It is for adults with sickle cell disease who are in the emergency department and receiving IV opioids for a vaso-occlusive crisis.
Baltimore, MarylandAges 18 years+ - NCT06191640Recruiting
Study of sinus disease in young children with cystic fibrosis
This study looks at sinus problems in young children with cystic fibrosis. One group of children starts a new medicine called a highly effective modulator (like Trikafta), and the other group does not take this medicine. The goal is to see how the medicine affects sinus health over time.
Aurora, ColoradoAges 2–8 - NCT06198296RecruitingPhase 1
Armored CAR T cells for GPC3-positive solid tumors
This trial tests a new type of immunotherapy called CAR T cells that are trained to find and attack cancer cells with a specific marker (GPC3). The CAR T cells are also 'armored' with extra proteins (IL-15 and IL-21) to help them work better. It might be an option for adults with advanced solid tumors, especially liver cancer, that have not responded to standard treatments.
Houston, TexasAges Up to 21 years - NCT02266615Recruiting
Biobank for genetic testing in new clinic patients
This trial collects body samples from new patients so doctors can run genetic tests and better understand inherited conditions. You might join if you are visiting the clinical genetics clinic for the first time and your sample is needed for genetic diagnostics.
Maastricht, LimburgAges Any age - NCT05716945RecruitingPhase 4
OPTIMISE Study for patients getting cornea transplant surgery
This trial looks at how to manage medicine around DMEK corneal transplant surgery to improve eye outcomes and safety. It may help people having this specific type of cornea transplant by testing an approach in the time after surgery.
Apeldoorn, GelderlandAges 21 years+ - NCT06169150Recruiting
Studying nervous system issues in immune disorders
This study looks for and tracks nervous system problems in people with immune system disorders. It aims to better understand how infections or inflammation affect the brain and nerves in these patients.
Bethesda, MarylandAges 2–120 - NCT06165341RecruitingPhase 3
Fazirsiran for mild liver scarring in alpha-1 antitrypsin deficiency
This study tests an investigational drug called fazirsiran, which is designed to treat alpha-1 antitrypsin deficiency-related liver disease with mild scarring. The goal is to see if fazirsiran is safe and can improve or slow liver damage in people with the PiZZ genetic type.
Phoenix, ArizonaAges 18–75 - NCT06164730RecruitingPhase 1
Study of VERVE-102 for high cholesterol or early heart disease
This trial tests a new medicine called VERVE-102 for people with a specific type of high cholesterol (HeFH) or early coronary artery disease. It aims to see if it can help lower cholesterol levels.
Dothan, AlabamaAges 18–70 - NCT06168201Recruiting
Virtual study on achondroplasia in the US
This study uses a virtual (online) approach to better understand achondroplasia across all ages. By collecting medical records from people in the US, researchers hope to learn more about the condition and improve care.
Oakland, CaliforniaAges birth–18 years - NCT06158490Enrolling by invitationPhase 2
JYP0061 tablet for moderate to severe eczema
This trial tests a new tablet called JYP0061 for people with moderate to severe atopic dermatitis (eczema) that has lasted at least a year. It aims to see if the drug is safe and effective in reducing symptoms.
Shanghai, Shanghai MunicipalityAges 18–65
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,767 recruiting medical genetics studies from the U.S. registry right now, out of 5,497 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.