Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,863 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- 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 Human Genome Research Institute (NHGRI)23
Where studies are running
- California339
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona77
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,863 total
- NCT00359684Recruiting
Cysteamine treatment for cystinosis
This trial looks at the use of cysteamine to treat cystinosis, a rare inherited condition. It may help lower harmful cystine buildup in the body and improve outcomes, especially early in life.
Bethesda, MarylandAges 1 week–115 years - NCT07335523Recruiting
Testing for poor digestion in Alagille syndrome after liver transplant
This study looks for signs of poor digestion after a liver transplant in people with Alagille syndrome. You collect stool samples for 3 days while on a high-fat diet to see if your pancreas is making enough enzymes.
Aurora, ColoradoAges 7–50 - NCT07221292RecruitingPhase 3
Study of N-acetyl-L-leucine for CACNA1A disorders
This trial tests a potential treatment for people with CACNA1A disorders, which can cause movement problems, migraine, or seizures. The medication may help improve balance and coordination.
Baltimore, MarylandAges 4 years+ - NCT07211685RecruitingPhase 2
Testing a new drug for adults with Alport syndrome
This study tests a new medicine called BAY 3401016 to see if it can help adults with Alport syndrome, a genetic condition that affects the kidneys. The drug is given as an infusion or injection and the study will check how well it works and if it is safe.
Birmingham, AlabamaAges 18–45 - NCT05657405Recruiting
Study of data analytics for people with genetic conditions
This is an observational study that collects health and family history information to see how advanced data analysis can help people with genetic conditions. It may involve website forms, optional conversations, and sometimes an NIH visit, depending on your situation.
Bethesda, MarylandAges 1 day–120 years - NCT07218887RecruitingPhase 1/Phase 2
Gene therapy for BAG3-related heart failure
This study tests an experimental gene therapy called ALXN2350 for people with dilated cardiomyopathy caused by a specific genetic change in the BAG3 gene. It aims to see if the therapy can improve heart function and slow disease progression.
Birmingham, AlabamaAges 18–70 - NCT07464093Recruiting
Pilates for joint hypermobility pain
This trial tests if a special Pilates program can reduce pain in people with hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder. You must have had pain for at least 3 months and be able to get on and off the floor on your own.
Chestnut Hill, MassachusettsAges 18 years+ - NCT07764510Enrolling by invitation
Heart-to-heart support for teens with congenital heart disease
This study tests a support program designed to help teens with congenital heart disease feel better and manage their health. It may improve emotional well-being and heart health.
Columbus, OhioAges 12–18 - NCT07604324RecruitingPhase 1
New Drug for Moderate to Severe Eczema Treatment
This study tests a new investigational drug called DCY636 to see if it can help people with moderate to severe atopic dermatitis (eczema) that hasn't improved with topical creams. The trial starts with safety testing in healthy volunteers, then moves to people with active eczema.
FukuokaAges 18–55 - NCT07449143Recruiting
Physical activity program for adults with MPS
This study tests a physical activity program for adults with MPS in the UK. It aims to help with movement and daily function through group workshops.
LondonAges 18 years+ - NCT07092540Recruiting
Baby Duchenne Study: Early Years in Boys With DMD
This study tracks development and health in young boys with Duchenne muscular dystrophy during the first three years of life. It aims to better understand early signs and how the condition progresses, which may help improve care and future treatments.
Rochester, New YorkAges birth–3 years - NCT07369414Recruiting
NTM Germs in CF Homes: A Household Study
This study looks at whether people with cystic fibrosis (CF) can pick up nontuberculous mycobacteria (NTM) from their home environment. It compares homes of people with CF who have NTM to those who don't, to see where germs might be hiding.
Borstel, Schleswig-HolsteinAges Any age - NCT06439082RecruitingPhase 3
Crizanlizumab for sickle cell pain crises
This trial tests whether crizanlizumab can reduce painful sickle cell crises (called vaso-occlusive crises or VOCs) in people with sickle cell disease who have frequent crises. It may be an option for those who still have crises despite current treatments.
Birmingham, AlabamaAges 12–100 - NCT06950892Recruiting
Remote sputum collection study for cystic fibrosis
This study tests if people with cystic fibrosis can collect sputum samples at home and mail them in, instead of coming to the clinic. It aims to make participation easier for patients.
Denver, ColoradoAges 18 years+ - NCT07221851RecruitingPhase 3
Weekly vs daily growth hormone for short stature in children
This trial tests a weekly growth hormone injection (lonapegsomatropin) compared to the standard daily growth hormone shot in children with short stature due to certain conditions. It aims to see if the weekly shot works as well or better and is safe.
Palo Alto, CaliforniaAges 2–17 - NCT07442669Recruiting
Lung ultrasound for surfactant decision in premature babies
This trial uses a lung ultrasound score, a type of ultrasound, to decide when to give surfactant (a medicine that helps lungs work) to premature babies born between 27 and 35 weeks of pregnancy. It aims to reduce the need for more breathing support and avoid side effects.
Hackensack, New JerseyAges 6 months–8 months - NCT07378644RecruitingPhase 2/Phase 3
Testing SKY-0515 for Huntington's disease
This trial tests a new drug called SKY-0515 in people with Huntington's disease. The goal is to see if it can safely improve symptoms or slow the disease down.
Englewood, ColoradoAges 25 years+ - NCT07008469Enrolling by invitationPhase 3
Long-term safety study of del-desiran for DM1
This study tests whether the drug del-desiran continues to be safe and effective for people with DM1 (myotonic dystrophy type 1) after they complete an earlier study. You'll receive the drug and have regular check-ups to see how you're doing.
Los Angeles, CaliforniaAges 16 years+ - NCT03394053Recruiting
Study immune system disorders and genetics using lab samples
This study aims to better understand primary immune disorders by collecting genetic and blood (and related) information. It may help researchers identify what causes these conditions and improve future testing and care.
Washington D.C., District of ColumbiaAges 1 day–90 years - NCT06947993RecruitingPhase 2
Study of a new treatment for moderate to severe eczema
This study tests an experimental treatment for people with moderate to severe eczema that has lasted at least a year. It aims to see if the new medicine can help control symptoms better than current options.
Birmingham, AlabamaAges 18–100 - NCT06465810Recruiting
Observational study for ATTR amyloidosis patients
This study follows patients with ATTR amyloidosis over time to understand how the disease affects them. It does not test a new treatment—instead, it asks you to fill out questionnaires about your health and symptoms to help doctors learn more about the condition.
La Jolla, CaliforniaAges 18–130 - NCT05527652Recruiting
Breathing tube device to help blocked upper airways in children
This study tests a self-supporting breathing tube placed through the nose during sleep to reduce upper airway blockage and improve breathing in children. It may help children who have sleep apnea symptoms, especially after tonsil/adenoid treatment or when tonsil removal isn’t possible.
Ann Arbor, MichiganAges 3–21 - NCT05047354Recruiting
Study cholesterol metabolism in rare genetic conditions
This study looks at body chemistry (cholesterol-related lab findings) and physical features in people with Smith-Lemli-Opitz syndrome and related rare genetic cholesterol disorders. It may help researchers better understand these conditions and how they affect the body.
Bethesda, MarylandAges 1 day–100 years - NCT05431088RecruitingPhase 2/Phase 3
Study of osivelotor for sickle cell disease
This study tests an investigational medicine called osivelotor for people with sickle cell disease (SCD). The goal is to see if it can reduce pain crises and improve overall health. It is for adults and adolescents aged 12 and older.
Mobile, AlabamaAges 12 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,863 recruiting medical genetics studies from the U.S. registry right now, out of 5,730 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.