Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,756 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2277
- Phase 1238
- Phase 3210
- Phase 1/Phase 2208
- Phase 497
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis125
- Congenital Heart Disease84
- Cystic Fibrosis76
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy37
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)28
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
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
- Massachusetts General Hospital22
Where studies are running
- California325
- Maryland161
- Alabama133
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania62
- Florida59
Recruiting studies3,756 total
- NCT06975865RecruitingPhase 3
Rilzabrutinib for sickle-cell disease pain episodes
This study tests an oral medicine called rilzabrutinib to see if it can reduce painful episodes in people with sickle-cell disease. It may be an option if you have regular pain crises and are looking for a new treatment.
Birmingham, AlabamaAges 10–65 - NCT05588167Recruiting
Niemann-Pick type C patient database and genetic data study
This study collects health information and genetic samples from people diagnosed with Niemann-Pick disease type C. The goal is to build a large database that can help researchers better understand the condition and improve future care.
Bethesda, MarylandAges 3 months+ - NCT07445087Recruiting
Takhzyro for hereditary angioedema in teenagers and adults
This study is for people in South Korea with hereditary angioedema. It looks at how well the drug Takhzyro works and how safe it is for teenagers and adults who are already using it or will start using it.
Suwon, Gyeonggi-doAges 12 years+ - NCT05938543Recruiting
Brain stimulation and appetite in Prader-Willi syndrome
This trial studies whether targeted brain stimulation (TMS) can help with appetite and eating feelings in people with Prader-Willi syndrome. It also includes an MRI scan to measure brain-related effects, but only if you can safely have these scans.
Belmont, MassachusettsAges 18–64 - NCT02504853Recruiting
Study food allergy patterns and genetics over time
This study follows people with food allergy and some closely related or healthy people to learn how food allergy (and related conditions) develops over time. It may help researchers find causes and better ways to predict and treat food allergy.
Bethesda, MarylandAges 1 day–99 years - NCT00001373Recruiting
Understanding the genetics of autoinflammatory diseases
This study collects genetic samples and medical histories from people with autoinflammatory diseases (like Familial Mediterranean Fever), their relatives, and healthy volunteers to understand how these conditions run in families and what causes them. Participation mainly involves providing a mail-in DNA sample.
Washington D.C., District of ColumbiaAges 2 months–115 years - NCT02797366RecruitingPhase 2
Proton beam radiation for adult brain and spine tumors
This trial studies whether proton radiotherapy can treat primary brain (and sometimes spine) tumors in adults. You may join because your tumor type and situation fit specific diagnoses, including some cases needing a re-treatment plan.
GothenburgAges 18 years+ - NCT02804269Recruiting
Ages 16 to 90 for heart disease information collection
This is a repository program that collects health and imaging-related information to better understand heart (cardiovascular) health and disease. You may be able to join if you are in the age range and share your data for research use.
Singapore, SingaporeAges 16–90 - NCT03131427Recruiting
Registry for inherited liver and metabolism-related conditions
This is a study that collects health information and samples (if applicable) from people with certain genetic or metabolic liver diseases. It may help doctors better understand these conditions and improve future care.
Beijing, Beijing MunicipalityAges Any age - NCT02137668RecruitingPhase 1
Testing vancomycin for certain pediatric bile duct conditions
This early-phase study tests whether the antibiotic vancomycin can help children with primary sclerosing cholangitis or biliary atresia, and related gut/bile duct problems. It may work by changing gut bacteria, but you would need to avoid certain medicines beforehand.
Sacramento, CaliforniaAges 2 weeks–40 years - NCT02420067Recruiting
Screening for inner-ear tumors in people with Von Hippel-Lindau
This trial focuses on checking whether a specific inner-ear tumor (called an endolymphatic sac tumor) can be found earlier in people with Von Hippel-Lindau (vHL) disease. It may help doctors detect problems sooner so you can discuss treatment options earlier, if needed.
Copenhagen, Copenhagen NAges 15 years+ - NCT03348501Recruiting
MEN1 monitoring study for people in France
This study follows people with Multiple Endocrine Neoplasia type 1 (MEN1) over time, including those with symptoms, certain isolated hormone gland problems, and people without symptoms who have the MEN1 gene change. It may help doctors learn how MEN1 starts and progresses so care can be better timed and personalized.
DijonAges Any age - NCT02440763Recruiting
Study of inherited progressive balance and coordination changes
This is a natural history study that follows people with inherited forms of “ataxia” (problems with balance and coordination) over time. It may help researchers better understand how these conditions progress in daily life and can inform future treatments.
InnsbruckAges 18 years+ - NCT02399748Recruiting
Long-term study of outcomes in Pompe disease
This study follows people with Pompe disease over a long period to learn how they do over time, especially those receiving enzyme replacement therapy. Your results could help doctors better understand expected outcomes and refine care.
TaipeiAges Any age - NCT03303833Recruiting
Lynch syndrome study following people over time
This study follows adults with Lynch syndrome (an inherited gene change) using regular questionnaires and tracking health over time. It may help researchers understand how the condition progresses and improve care for people with these gene mutations.
WageningenAges 18–80 - NCT03528525Recruiting
Study of breathing-related rare genetic diseases in Chinese children
This registry study collects and stores samples from children with breathing-related rare genetic (inherited) diseases to learn more over time. It may help researchers better understand these conditions and improve future care, especially through long-term follow-up.
Beijing, Beijing MunicipalityAges 1 month–18 years - NCT02967822Recruiting
Study of genes in MRKH syndrome and related families
This study looks at DNA (your genes) to better understand Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. It may help researchers learn more about the condition, and it can include both people with MRKH and healthy family relatives.
ParisAges Any age - NCT02321423Recruiting
Research registry for pachyonychia congenita patients
This study builds an international database of people with pachyonychia congenita (or a closely related condition). Sharing your information may help researchers understand the condition better and improve future treatments.
Salt Lake City, UtahAges Any age - NCT03793348Recruiting
Micro-coring device to improve moderate to severe facial wrinkles
This study tests a device that removes tiny skin cores (“micro-coring”) to improve moderate to severe wrinkles on the face, especially the cheeks. It mainly checks safety and whether skin texture looks better after treatment.
Sacramento, CaliforniaAges 40–70 - NCT03821051Recruiting
Registry for heartbeat rhythm problems from structural heart disease
This is a registry that collects information about people with certain dangerous heartbeat rhythm problems caused by structural (anatomical) heart diseases. It may help researchers understand patterns and risks, and improve how these conditions are studied and managed.
Beijing, Beijing MunicipalityAges Any age - NCT03836521Recruiting
Registry for valve replacement in bicuspid aortic stenosis patients
This registry collects information about adults with severe narrowing of the aortic valve caused by a bicuspid (two-leaflet) valve shape, especially if symptoms are present. It may help doctors better understand who benefits from a catheter-based valve replacement (TAVR).
Los Angeles, CaliforniaAges 19–129 - NCT03837574Recruiting
Registry for people with Tetralogy of Fallot and a defibrillator
This is a national registry that collects information about people with Tetralogy of Fallot who have an implantable defibrillator. It helps researchers better understand outcomes and care needs in this specific group.
ParisAges 18 years+ - NCT03880708Recruiting
Registry for inherited dangerous heart rhythm conditions
This study is a heart rhythm registry for people with inherited conditions that can cause abnormal heart beats. By collecting health and testing information, researchers hope to better understand these conditions and improve care.
Beijing, Beijing MunicipalityAges 1 hour–90 years - NCT03949049RecruitingPhase 3
Citi-coline for babies who had low oxygen at birth
This trial studies whether a medicine called citicoline can protect the brain in newborns who had low oxygen (hypoxia). It may help reduce brain injury in babies, but it does not include babies with a specific severe brain condition.
CairoAges Up to 1 month
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,756 recruiting medical genetics studies from the U.S. registry right now, out of 5,439 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.