Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- 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
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT07194551Recruiting
Checking uterine cancer risk in Lynch syndrome with home sampling
This study is testing a new way to check for uterine cancer risk in people with Lynch syndrome. You would collect a vaginal sample yourself at home and fill out a health questionnaire, which may help catch warning signs early.
Vancouver, British ColumbiaAges 30 years+ - NCT07195253Recruiting
Down syndrome and sleep apnea study in infants
This study looks at mouth and face features and sleep apnea in 6-month-old infants with Down syndrome. It may help doctors understand and treat sleep problems better.
BronAges 5 months–6 months - NCT07197723Recruiting
Study of decision making about prostate cancer risk
This study looks at how men with a BRCA1/2 gene change make decisions about their health and prostate cancer risk. Participants will fill out surveys to help researchers understand these choices.
New York, New YorkAges 45–70 - NCT07194174Recruiting
Exercise training for periodic paralysis patients
This study tests whether a physical training program can help people with hypokalemic or hyperkalemic periodic paralysis improve their muscle strength and daily function.
CopenhagenAges 18 years+ - NCT07201012Recruiting
Finding skin tumors in Lynch syndrome patients
This study looks for Muir-Torre syndrome, a condition that causes certain skin tumors, in people who already have Lynch syndrome. It may help doctors understand how common this skin condition is in Lynch syndrome patients.
Nîmes, GardAges Any age - NCT07193719RecruitingPhase 1/Phase 2
Personalized breathing support for kids after heart surgery
This study tests a personalized breathing technique to improve lung function and heart performance in children who have had heart surgery or are on ECMO. The goal is to find the best way to open up the lungs safely.
BerlinAges birth–18 years - NCT07196839Recruiting
Study of heart medication and amyloid levels over time
This study looks at how a heart medication (tafamidis) affects amyloid protein levels in the blood over time. It may help doctors understand how well the treatment works for people with a specific type of heart disease caused by amyloid buildup (ATTR-CM).
Dallas, TexasAges 30–80 - NCT07202910Recruiting
Validating liver imaging in children
This study tests if non-invasive imaging (like ultrasound) can replace liver biopsies in children with liver disease. It may help avoid the need for a needle biopsy in the future.
Gothenburg, Västra Götaland CountyAges Up to 25 years - NCT07195071Recruiting
Combining pregnancy carrier and cancer risk screening
This study combines routine obstetrical carrier screening with hereditary cancer risk screening in one blood draw. It aims to see if offering both tests together is feasible and helpful for patients receiving OB care.
New York, New YorkAges 18–55 - NCT07201025Recruiting
MRI study of kidney disease in ARPKD
This study uses MRI scans to track kidney disease progression in children and adults with ARPKD. It aims to better understand how the disease changes over time, which could help improve future care.
Cleveland, OhioAges 6 years+ - NCT07194993Recruiting
Testing protein needs in adults with PKU
This study looks at how much protein people with PKU need. If you have PKU and are 18 or older, you may help researchers understand your body's protein needs better.
Atlanta, GeorgiaAges 18 years+ - NCT05971329Recruiting
Pilot study of bone graft for cervical disc wear and nerve symptoms
This trial tests a new bone graft product (ZetaFuse™) used during front-of-the-neck surgery to treat “wear and tear” in the cervical (neck) discs causing nerve problems. It may help relieve pain and nerve-related symptoms when other treatments haven’t worked.
Randwick, New South WalesAges 22–75 - NCT06941662Recruiting
Huntington's disease biobank: remote monitoring study
This study is building a biobank to better understand Huntington's disease by using remote monitoring and deep phenotyping (collecting detailed health information). It may help develop better ways to track the disease and improve care for people with the Huntington's gene expansion.
Palo Alto, CaliforniaAges Any age - NCT06943508Recruiting
Nordic walking for balance in children with Down syndrome
This study tests whether a special walking program (Nordic walking with poles) can help children with Down syndrome improve their balance and leg strength. It may be a good fit for children who can walk but have balance difficulties.
Lahore, Punjab ProvinceAges 8–13 - NCT06943170Recruiting
Aerobic exercise with or without a low calorie diet for teens with Down syndrome
This trial studies how aerobic exercise, alone or combined with a low calorie diet, affects body fat and weight in children with Down syndrome who are overweight or obese. The goal is to find a safe, effective way to help manage weight.
Lahore, Punjab ProvinceAges 8–16 - NCT05907317RecruitingPhase 3
Protecting the brains of very young newborns on breathing machines
This Phase 3 study tests ways to protect brain health in newborns who are very premature or recently born and need a breathing machine through a tube. It may help reduce the risk of brain injury while they receive intensive care.
MadridAges birth–4 weeks - NCT07187297Recruiting
Radiofrequency skin tightening study for loose skin and wrinkles
This study tests a radiofrequency device called Thermage® FLX to see how well it tightens skin and reduces wrinkles on the neck, face, belly, or upper arms. It may be a good option if you have mild to moderate skin looseness or lines and haven't had recent cosmetic procedures.
Sacramento, CaliforniaAges 30–60 - NCT07190300RecruitingPhase 1/Phase 2
Study of tulmimetostat plus other hormone therapies for metastatic prostate cancer
This study tests two different combinations of drugs for men with prostate cancer that has spread to other parts of the body but still responds to hormone therapy. It compares a new pill (tulmimetostat) combined with standard treatments like darolutamide or abiraterone to see if it can help control the cancer longer.
Birmingham, AlabamaAges 18 years+ - NCT07185256RecruitingPhase 1/Phase 2
Gene therapy for Best disease retinal trial
This trial tests a gene therapy called OPGx-BEST1 injected under the retina to treat vision loss from Best vitelliform macular dystrophy or a related condition. It may help people with advanced disease who have a specific genetic change in the BEST1 gene.
Los Angeles, CaliforniaAges 18 years+ - NCT07188012RecruitingEarly Phase 1
Gene therapy trial for Duchenne muscular dystrophy in young boys
This trial tests a new gene therapy called SPOT-03 to see if it can help the body make dystrophin, a protein that is missing in Duchenne muscular dystrophy (DMD). It is for boys ages 2 to under 8 who can still walk at least 10 meters.
Shanghai, Shanghai MunicipalityAges 2–7 - NCT07187440Recruiting
Study of Fabry disease treatment in Chinese children and adults
This study tests an enzyme replacement therapy (agalsidase alfa) for Fabry disease in Chinese children and adults. It's an observational study that follows patients who receive the treatment as part of their regular care.
Hefei, AnhuiAges 7 years+ - NCT07187973RecruitingPhase 1
Study of DISC-3405 for people with sickle cell disease
This trial tests an investigational drug called DISC-3405 in people with sickle cell disease (SCD) to see if it is safe and how it affects your body. It may be an option if you have certain SCD complications or lab results.
Birmingham, AlabamaAges 18 years+ - NCT06787482RecruitingPhase 1/Phase 2
Peptide therapy for retinitis pigmentosa
This trial tests a new peptide therapy for people with retinitis pigmentosa (RP), a genetic eye disease that causes vision loss. The goal is to see if the treatment is safe and can help slow or improve vision loss.
CairoAges Any age - NCT06915311Recruiting
Danish Study on Embryo Genetic Testing for Single-Gene Disorders
This study looks at how well a genetic test on embryos (called PGT-M) can find specific single-gene disorders. It will help doctors learn more about these tests and improve care for families.
AalborgAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.