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
- NCT04270045Recruiting
Breathing test in babies with bronchopulmonary dysplasia
This trial studies a breathing measurement test (forced oscillometry) in babies who were born early and have bronchopulmonary dysplasia (BPD), a long-term lung condition. It may help doctors better understand how babies’ lungs are working and guide future care.
Kansas City, MissouriAges Any age - NCT04272697Recruiting
Registry study for familial cholesterol conditions
This trial is a global registry that collects health and genetic information from people with familial hypercholesterolemia (FH) and sometimes from their relatives. The goal is to better understand FH and how it presents, which can help improve care for families affected by high cholesterol.
LondonAges Any age - NCT04286464Enrolling by invitation
Study how pregnancy affects airway inflammation in babies
This study looks at how different pregnancy and birth factors may contribute to airway inflammation in infants who wheeze or have lung conditions. It may help researchers understand why some babies get ongoing breathing problems and how early influences could be linked.
BernAges Any age - NCT04343157RecruitingPhase 2
Image-guided radiation for brain tumors that protects thinking
This trial tests a special type of radiation therapy for brain tumors that aims to protect your memory and thinking skills. It may be an option if you have certain brain tumors or a small number of brain metastases.
San Diego, CaliforniaAges 18 years+ - NCT04367246Recruiting
TP53 (Li-Fraumeni) family biobank and sample study
This study collects and stores health information and biological samples from people who have a known TP53 change (Li-Fraumeni syndrome) and from close family members. The goal is to help researchers learn more about risks and future treatments for this genetic condition.
Philadelphia, PennsylvaniaAges Any age - NCT04278404Recruiting
Drug safety study for children already on certain medicines
This study measures how certain medicines move through the body and checks their safety in children. It may help doctors better understand dosing and side effects in kids who are already receiving these treatments, or in some kids who recently tested positive for COVID-19.
Phoenix, ArizonaAges birth–20 years - NCT04374305RecruitingPhase 2
Study tests targeted treatments for NF2 tumors
This trial studies targeted medicines in people with neurofibromatosis type 2 (NF2) who have growing tumors on scans. The goal is to slow tumor growth and improve symptoms by testing different drug combinations in separate study groups.
Los Angeles, CaliforniaAges 12 years+ - NCT04356469RecruitingPhase 2
Donor stem cell transplant for serious blood disorders in children
This trial tests a special type of donor stem cell transplant (with donor T-cells removed) to treat serious non-cancer blood problems in children. It may help by resetting the bone marrow so the body can make healthy blood cells again.
St. Petersburg, FloridaAges birth–21 years - NCT04356326RecruitingPhase 3
Aspirin to prevent complications in pregnancy with chronic high blood pressure
This trial studies whether taking acetyl salicylic acid (aspirin) during pregnancy can reduce problems caused by chronic high blood pressure. It focuses on pregnant people already known to have high blood pressure before or early in pregnancy.
BordeauxAges 18 years+ - NCT04292574Recruiting
UK Spinal Muscular Atrophy patient registry
This trial is a registry that collects health information from people with spinal muscular atrophy (SMA). It helps researchers understand the condition better and may support future studies and treatments.
Newcastle upon TyneAges Any age - NCT04257994Recruiting
Study how heart cell connections differ in inherited rhythm problems
This study looks at how proteins that connect heart cells are distributed in people with inherited heart rhythm disorders (and some family members who may carry the gene). It aims to better understand the biology behind these conditions, which may help improve risk assessment and future care.
LondonAges 18 years+ - NCT04334031Recruiting
Hospital follow-up study for immune-related disease
This is a study that follows people with an immune-related illness at Lille University Hospital to better understand their care needs over time. By collecting information regularly, the study may help improve how future patients are monitored and treated.
LilleAges 18 years+ - NCT04344769Recruiting
Studying how a kidney-protecting pathway works in ADPKD
This study looks at how the body’s “Nrf2 response” works in people with autosomal dominant polycystic kidney disease (ADPKD). It may help researchers better understand disease biology and future treatments by comparing kidney-related signals in ADPKD patients and healthy volunteers.
Rochester, MinnesotaAges 18–30 - NCT04157049Recruiting
Alpha-1 research registry for diagnosed people and carriers
This registry study enrolls people with Alpha-1 Antitrypsin Deficiency or certain genetic “carriers” to help researchers learn more about the condition. If you join, you may be asked to share health information over time.
Coral Gables, FloridaAges Any age - NCT04240821Enrolling by invitationPhase 2
Theophylline for pseudohypoparathyroidism after prior study
This Phase 2 trial tests whether the medicine theophylline can help people with pseudohypoparathyroidism. You may be eligible only if you already completed a specific earlier randomized Phase 2 study.
Nashville, TennesseeAges 2–99 - NCT04216927RecruitingPhase 3
Neonates on heart-lung bypass get NO to prevent kidney injury
This Phase 3 study tests whether not giving nitric oxide during heart-lung bypass in newborns helps reduce the risk of acute kidney injury. It focuses on newborns having heart surgery for congenital heart disease.
Cincinnati, OhioAges 1 day–1 month - NCT04197596RecruitingPhase 1/Phase 2
BK infection immune-cell treatment after transplant or weak immunity
This Phase 1/2 study tests lab-made immune cells that specifically target BK virus in people whose BK infection keeps coming back or doesn’t improve. It may help by boosting the body’s ability to clear the virus, especially when standard antiviral treatments don’t work or can’t be tolerated.
San Francisco, CaliforniaAges 1 month–79 years - NCT04190953Recruiting
Braces and expanders in kids to improve airflow space
This study looks at how jaw and palate treatments affect airflow through the upper airway in children with a specific bite and jaw shape. It may help researchers understand which treatments improve space for breathing and related pressure changes.
Edmonton, AlbertaAges 8–14 - NCT04194619Recruiting
Study of pregnancy safety in women with rare blood-vessel diseases
This study looks at pregnancy and the early period after birth in women with rare diseases that affect blood vessels. It may help doctors understand risks and improve care for future pregnancies.
AngersAges 18–45 - NCT04205604RecruitingPhase 2
FDOPA PET scan to locate excess insulin in infancy
This Phase 2 study uses an FDOPA PET scan to find where insulin overproduction is coming from in focal congenital hyperinsulinism (FoHI) or related conditions. The goal is to help doctors better detect and localize the “source” so treatment can be more targeted.
San Francisco, CaliforniaAges birth–18 years - NCT04199000Recruiting
Study for congenital glycosylation disorders and NGLY1 deficiency
This trial is for people who have a confirmed genetic condition related to how the body builds certain sugar-like structures (CDG) or NGLY1 deficiency. It aims to better understand these conditions through clinical and basic science research, which may help improve future care.
San Diego, CaliforniaAges Any age - NCT04227678Recruiting
Study of how fat is handled after eating in rare LPL deficiency
This study looks at how your body processes fatty acids after meals in people with lipoprotein lipase deficiency (a rare genetic condition). It also compares results to people without the condition, which may help researchers understand metabolism and guide future care.
Sherbrooke, QuebecAges 18–75 - NCT04165109Recruiting
Down syndrome study to test memory and thinking changes
This study enrolls adults with Down syndrome to better understand how thinking and memory develop and change over time. It may help by building a “trial-ready” group and by measuring thinking in a careful, consistent way.
Phoenix, ArizonaAges 25–55 - NCT04159675Recruiting
Burosumab and vitamin D for kids needing skull surgery
This study tests whether burosumab and vitamin D affect bone cells before and around the time of craniosynostosis surgery in children. It may help researchers understand treatment options for rare calcium and phosphate bone disorders that can affect skull growth.
BronAges 4 months–18 years
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.