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
- 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 - NCT04157179Recruiting
MRI study of brain oxygen use in children and adults
This study uses an MRI scan to measure how your brain uses oxygen. It includes healthy participants and people with sickle cell disease or who previously needed ECMO, which may help researchers understand brain oxygen problems and how to monitor them.
St Louis, MissouriAges 3–50 - NCT04159103RecruitingPhase 1/Phase 2
mRNA treatment for propionic acidemia, tested in a study
This trial tests an mRNA medicine (mRNA-3927) in people with propionic acidemia (PA). It aims to see whether this treatment is safe and can help the body when PA is confirmed by genetic testing.
Los Angeles, CaliforniaAges Any age - 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 - 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 - NCT04166526Recruiting
Brain and brain-vessel MRI study in kids with sickle cell
This study uses MRI scans to understand how the brain and blood vessels are affected in children with sickle cell disease, including before and after certain treatments. It also includes healthy children for comparison and may help improve future monitoring and care.
Boston, MassachusettsAges 8–18 - NCT04170244Recruiting
Skin microbiome study in atopic dermatitis and psoriasis
This study looks at the skin’s germs (“microbiome”) in people with atopic dermatitis (eczema) or psoriasis. It may help researchers better understand what’s going on on the skin and how that might relate to disease severity.
Rochester, New YorkAges 13 years+ - NCT04173650RecruitingPhase 1/Phase 2
Testing stem cell “package” therapy for severe skin blistering
This early-stage study tests stem cell–derived “extra-cellular vesicles” (small natural cell packages) to help heal painful skin wounds in people with dystrophic epidermolysis bullosa (DEB). If you have suitable, untreated wounds and meet the safety requirements, you may be able to join and help researchers learn whether this treatment is beneficial.
Phoenix, ArizonaAges 6 months+ - NCT04176523Recruiting
Study of long-term carglumic acid use in organic acidemia
This study looks at how people with organic acidemia (like MMA or PA) do over the long term while taking carglumic acid. The research may help improve long-term management and support for patients and caregivers.
BordeauxAges 6 months–99 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 - 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 - 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 - NCT04201210RecruitingPhase 2
Stem cell transplant study for young people with severe sickle cell
This Phase 2 study tests a type of stem cell transplant that uses donor immune cells that have been specially “tweaked” to help treat sickle cell disease. It may help prevent serious sickle cell complications, but it requires careful matching and screening of organs and pregnancy status.
ViennaAges 2–35 - NCT04217421RecruitingPhase 3
Allopurinol for newborns needing heart surgery with bypass
This trial tests whether the medicine allopurinol can protect the brain and heart in newborns with serious congenital heart disease who need heart surgery soon after birth. It may help reduce injury during and around surgery that uses a heart-lung machine (cardiopulmonary bypass).
GroningenAges Up to 1 month - NCT04217603Recruiting
CPAP test to improve walking distance in ECAC
This study looks at whether using CPAP (a breathing device that helps keep airways open) can improve how far you can walk in 6 minutes. It also checks how CPAP may change breathing and exercise test results in people with ECAC.
Boston, MassachusettsAges 18 years+ - NCT04218318Recruiting
Stopping light therapy early in newborns with blood breakdown
This study looks for a safe threshold to stop the “light therapy” (phototherapy) in newborns who have jaundice caused by blood cell breakdown (hemolytic disease). It may help some babies avoid unnecessary extra days of treatment while still staying safe.
MadinahAges 1 hour–2 weeks - 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 - NCT04232085RecruitingPhase 2
Stem cell transplant to rebuild immunity in genetic immune disorders
This Phase 2 trial tests a stem cell (bone marrow) transplant approach to restore bone marrow function and immune function in people with certain inherited immune problems. If you have one of these conditions and a suitable donor, the study may offer a path to rebuild blood and immune systems.
Baltimore, MarylandAges 4 months–50 years - NCT04234971RecruitingPhase 4
Compare costs of bone grafting for cleft jaw repair
This study looks at whether alveolar bone graft surgery is cost-effective for people with cleft lip and palate. It may help clinics choose the most practical approach for the best outcomes while managing overall costs.
Houston, TexasAges 6–15 - NCT04239508Recruiting
Newborn brain-cooling and follow-up data study in Switzerland
This study follows Swiss babies after very early birth or after breathing/oxygen problems around delivery, to better understand outcomes and care. If your baby fits the timing or birth condition rules, their information may be collected for follow-up and research.
ZurichAges birth–4 weeks - NCT04240522Recruiting
Long-term study of eczema and related allergies
This observational study follows people with eczema (atopic dermatitis) and sometimes related allergies over time, even if they keep their usual medical treatments. It may help researchers better understand how these conditions change and what factors relate to symptoms.
Zurich, Canton of ZurichAges 1–85 - NCT04252066Recruiting
Pregnancy and breastfeeding study for women with Fabry disease
This study follows pregnant and breastfeeding women with Fabry disease (and their infants) to better understand what happens during pregnancy and early life. You may or may not be taking migalastat, and the goal is to gather real-world information that could help future care.
Philadelphia, PennsylvaniaAges 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+
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.