Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- Cystic Fibrosis (CF)37
- Cardiac Amyloidosis35
- Huntington Disease32
- Lynch Syndrome32
- Heart Failure31
- Retinitis Pigmentosa31
- Bronchopulmonary Dysplasia30
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)27
Leading sponsors
- Assistance Publique - Hôpitaux de Paris62
- Boston Children's Hospital42
- National Institute of Allergy and Infectious Diseases (NIAID)38
- Mayo Clinic37
- Children's Hospital Medical Center, Cincinnati33
- Hospices Civils de Lyon32
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Riphah International University26
- Massachusetts General Hospital23
- National Cancer Institute (NCI)23
Where studies are running
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT03233646Recruiting
Retina scans in memory and nerve disorders
This study uses pictures of the back of your eye (retinal imaging) to look for differences in people with neurodegenerative diseases and compares them with people without these conditions. It may help researchers understand eye changes that could connect to brain or nerve health.
Durham, North CarolinaAges 18 years+ - NCT03243019RecruitingPhase 2
Rapamycin for lymphatic malformations in children
This trial studies whether rapamycin can reduce problems caused by cervico-facial or chest (mediastinal) lymphatic malformations in children. It may help with pain and swallowing or breathing difficulties when standard “curative” treatment isn’t possible.
LilleAges Up to 18 years - NCT03249337RecruitingPhase 4
Ripasudil drops before Descemet stripping surgery in Fuchs disease
This trial tests whether Glanatec (ripasudil) eye drops help patients with Fuchs endothelial dystrophy get better results from Descemet stripping surgery. It may help improve vision and reduce symptoms for people whose vision problems come mainly from the Fuchs changes in the cornea.
Glenview, IllinoisAges 18–91 - NCT03266640RecruitingPhase 2
CMV cell therapy for difficult-to-treat viral infection
This trial tests an immune cell treatment (CMV-specific cytotoxic T cells) for people with a CMV infection that is not improving despite standard antivirals, or who cannot tolerate them. If eligible, the treatment aims to help the body control the virus after transplant-related immune problems.
Los Angeles, CaliforniaAges 1 month–79 years - NCT03266627RecruitingPhase 2
Adenovirus T-cell therapy for hard-to-treat virus after transplants
This trial tests a special immune-cell treatment made to fight adenovirus in people whose adenovirus infection keeps coming back or won’t improve after transplant. It may help control infection when standard antiviral medicines are not working or can’t be tolerated.
Los Angeles, CaliforniaAges 1 month–79 years - NCT03266653RecruitingPhase 2
T-cell therapy for stubborn Epstein-Barr virus after transplants
This trial tests an immune therapy made from EBV-targeted T-cells to treat EBV infections that do not improve with standard anti-viral medicines. It may help by strengthening the body’s ability to fight EBV after certain transplants or immune problems.
Los Angeles, CaliforniaAges 1 month–79 years - NCT03273049Recruiting
Study of disease processes in children getting liver transplants
This study maps how biliary atresia (a childhood blockage/problem with bile flow from the liver) progresses and changes in the body around the time of a liver transplant. It may help doctors better understand the disease and improve future care.
Pittsburgh, PennsylvaniaAges Any age - NCT03279094RecruitingPhase 1
Testing a half-matched bone marrow transplant for sickle cell
This early-phase study tests whether a “half-matched” donor bone marrow transplant, with special medicines to calm the immune system before transplant, can improve outcomes for people with sickle cell disease. It may help high-risk patients who have frequent complications and don’t have a fully matched donor.
Duarte, CaliforniaAges 1–30 - NCT03283852Recruiting
Genetic study for certain childhood hormone and development disorders
This study looks for new genetic causes of certain “development disorders” that involve hormone problems and how the body develops at puberty. It may help families understand the root cause, which can guide future care and testing.
ParisAges Any age - NCT03291223Recruiting
Gaucher disease patient survey to improve outcomes
This study looks at how Gaucher disease affects patients’ daily life and health outcomes through a survey. Your answers could help improve future care and treatments by showing what outcomes matter most.
Lexington, MassachusettsAges Any age - NCT03301038RecruitingPhase 2
Rifampin for a rare calcium disorder caused by CYP24A1
This trial tests rifampin to improve high blood and/or urine calcium that happens in people with CYP24A1 gene changes. It also checks safety by watching liver and kidney blood tests and pregnancy status.
Philadelphia, PennsylvaniaAges 6 months–65 years - 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 - NCT03305835Recruiting
Genetic testing for inherited kidney stone causes
This study uses genetic testing to look for inherited (“monogenic”) reasons some people get kidney stones. It may help explain the cause of stones and calcium-related problems, which can guide future care for you or your family.
Rochester, MinnesotaAges Any age - NCT03311503RecruitingPhase 1/Phase 2
Gene therapy for X-linked SCID in young children
This trial tests a gene therapy using a lentivirus to give missing immune system instructions in children with X-linked SCID (SCID-X1). It also uses a low dose of targeted chemotherapy (busulfan) to help the new genes work, and it requires long-term follow-up for safety.
Los Angeles, CaliforniaAges birth–5 years - NCT03327428Recruiting
Registry study for people with sickle cell disease
This study is a registry that collects information about people living with sickle cell disease. It may help researchers better understand sickle cell types in Germany, Austria, and Switzerland and support future research and care.
Heidelberg, Baden-WurttembergAges birth–100 years - NCT03327779Recruiting
Bleeding disorders registry for blood-clotting conditions
This study is a registry that collects information about people with bleeding disorders like hemophilia A or B and von Willebrand disease. The goal is to better understand these conditions and improve care across participating treatment centers.
Montreal, QuebecAges Any age - NCT03333200Recruiting
Study of genetic brain diseases over time
This trial follows people with genetic neurodegenerative (brain-wasting) disorders over time to better understand how the condition changes. The goal is to learn patterns that could help future treatments or care plans.
Pittsburgh, PennsylvaniaAges Any age - NCT03353584Recruiting
Virtual reality for pain relief during sickle cell pain crises
This trial tests whether a virtual reality (VR) experience can help reduce pain during a sickle cell “vaso-occlusive crisis,” which is an episode of sudden, severe pain. It’s offered alongside the care team’s usual pain management to see if VR makes pain feel better.
Memphis, TennesseeAges 6–25 - 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 - NCT03361215Recruiting
Tracking skin disease patterns and anti-inflammatory response
This study looks at how atopic dermatitis (eczema), psoriasis, or other autoimmune skin diseases change over time and how the body responds to anti-inflammatory signals. Your information and—if eligible—samples help researchers find patterns that could guide better treatments.
KielAges birth–100 years - NCT03371641Recruiting
Study of alcohol exposure effects in unborn babies
This study looks at unborn babies exposed to alcohol during pregnancy and compares them with babies not exposed. Researchers test a pregnancy blood marker to see whether it may relate to early brain changes in the baby.
RouenAges 18 years+ - NCT03373968RecruitingPhase 2/Phase 3
Long-term study of givinostat safety in Duchenne muscular dystrophy
This trial looks at how safely givinostat works over a longer time in people with Duchenne muscular dystrophy (DMD). It mainly checks long-term side effects and tolerability, especially in a specific subgroup of muscle fat levels.
Sacramento, CaliforniaAges 7 years+ - NCT03382158Recruiting
Learn about DICER1-related tumors through a patient registry
This registry collects information about people with known or suspected DICER1-related conditions, including certain rare chest and other tumor types. It helps doctors and researchers understand these conditions better and may support future studies.
Minneapolis, MinnesotaAges birth–100 years - NCT03396562Recruiting
Study of early development in babies with extra sex chromosomes
This study follows infants and young children with conditions caused by having an extra sex chromosome (like XXY, XYY, or XXX) to learn how health and development unfold over time. It may help families and doctors understand what to expect and what support could be helpful.
Aurora, ColoradoAges 1 month–1.1 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.