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
- NCT07239947RecruitingPhase 1
Testing BBT001 for healthy volunteers and people with eczema
This trial tests a new medicine called BBT001, first in healthy people and then in adults with moderate to severe eczema (atopic dermatitis). It aims to see if the drug is safe and how well it works for treating eczema that hasn't improved with topical treatments.
Hefei, AnhuiAges 18–65 - NCT06371417RecruitingPhase 1
Testing RAY121 for several immune diseases (RAINBOW trial)
This trial tests a new medicine called RAY121 (an antibody) for people with certain autoimmune diseases. It aims to see if RAY121 is safe and how the body handles it. If you have one of these conditions and meet the basic health requirements, you might be able to join.
Orange, CaliforniaAges 18–85 - NCT07718997RecruitingPhase 1
Social skills training for people with sex chromosome differences
This trial tests a social management training program for adults with sex chromosome aneuploidies (SCA). The goal is to see if it can help improve social skills and daily life. It is a small feasibility study to prepare for larger future trials.
OsloAges 16–65 - NCT06194305RecruitingPhase 2
Brain and behavior study of tic therapy for kids
This study tests a behavioral therapy (CBIT) for children with tics. It uses brain scans (MRI and EEG) to see how the therapy works. It may be a good fit for a child who has had tics for at least a year and hasn't had much of this therapy before.
San Diego, CaliforniaAges 10–17 - NCT07721025RecruitingPhase 2
Gene therapy trial for Friedreich ataxia heart disease
This trial tests a one-time gene therapy called LX2006 for heart problems caused by Friedreich ataxia. The goal is to see if it can improve heart function and structure.
Tampa, FloridaAges 6 years+ - NCT07695597RecruitingPhase 2
Study of SYH2070 for people with high cholesterol and triglycerides
This trial tests an investigational injection called SYH2070 to lower cholesterol and triglycerides in people who are already on a stable statin therapy. It may be a new option for those with mixed hyperlipidemia who need additional lipid control.
Hangzhou, ZhejiangAges 18 years+ - NCT05973656Recruiting
Study how alcohol affects the risk of mouth cancer
This study looks at how a breakdown product from alcohol (acetaldehyde) may play a role in oral (mouth) cancer. It may help researchers understand who is more affected by alcohol and why.
Minneapolis, MinnesotaAges 18–45 - NCT05139797Recruiting
AI-guided heart ultrasound screening for suspected amyloidosis
This study tests whether an artificial-intelligence system can help decide who should get a special heart workup for a rare disease called cardiac amyloidosis. If you have signs that make doctors suspect this, the AI-guided ultrasound screening may help find it sooner.
Los Angeles, CaliforniaAges 18 years+ - NCT06214507Recruiting
Danon disease natural history study
This study follows people with Danon disease over time to better understand how the condition progresses. It may help guide future treatments.
Phoenix, ArizonaAges 8 years+ - NCT06078553Recruiting
Natural history study of congenital myasthenic syndromes (CMS)
This study follows people with congenital myasthenic syndrome (CMS) caused by changes in certain genes (DOK7, MUSK, AGRN, or LRP4) over time. It does not test any new drug, but helps researchers understand how the condition changes and how to plan future treatments.
Sacramento, CaliforniaAges 2 years+ - NCT07718971Enrolling by invitation
Whole-genome sequencing for unexplained medical conditions
This study uses whole-genome sequencing (a complete read of your DNA) to try to find a genetic cause for unexplained medical conditions. If you have a puzzling illness without a clear diagnosis, this test might give you answers.
Seattle, WashingtonAges 18–50 - NCT05031507Recruiting
Study of bone disorders and inherited genetic factors
This study looks at bone (skeletal) disorders to better understand possible genetic causes, especially when phosphate levels or bone growth are affected. You may join either if you (or your child) has a bone disorder, or if you’re an unaffected family member who might help compare results.
Bethesda, MarylandAges 2 months–100 years - NCT03102554Enrolling by invitation
Study genes in sex development differences and hypospadias
This study looks for genetic causes of differences in how a baby or child’s sex organs develop, including hypospadias. You may be able to join if doctors can’t find a reason using standard testing.
Boston, MassachusettsAges Any age - NCT07285005RecruitingPhase 3
Study of an oral drug for venous, lymphatic, and certain overgrowth syndromes
This trial tests whether the study drug KP-001 can help reduce symptoms like pain, fatigue, or bleeding caused by certain vascular malformations (abnormal blood vessel growths) that can't be surgically removed or haven't responded to other treatments. It's for people age 2 and older with specific conditions such as common venous malformations, lymphatic malformations, or KTS/CLOVES syndrome.
Charleston, South CarolinaAges 2 years+ - NCT07347249RecruitingPhase 2
New drug for congenital Factor VII deficiency
This study tests a new drug called Sutacimig for people with congenital Factor VII deficiency, a rare bleeding disorder. The drug is designed to help prevent or control bleeding episodes.
LondonAges 18–60 - NCT06764485RecruitingPhase 3
Comparing a new drug to standard therapy for advanced prostate cancer
This trial tests a new medicine (BMS-986365) against the doctor's choice of standard therapy for men with metastatic castration-resistant prostate cancer. It aims to see which treatment works better and is safer.
Birmingham, AlabamaAges 18 years+ - NCT01778504Recruiting
Study of childhood behavioral and psychiatric disorders
This study looks at brain, behavior, and genetic factors in people with neuropsychiatric or developmental disorders, as well as their biological relatives. It may help researchers better understand these conditions and find new ways to diagnose or treat them.
Bethesda, MarylandAges 4 weeks–99 years - NCT07614152RecruitingPhase 3
Growth hormone treatment for girls with Turner syndrome
This study tests whether a new long-acting growth hormone injection helps girls with Turner syndrome grow taller. Turner syndrome is a genetic condition that affects growth, and this trial will see if this treatment is safe and effective.
AnyangAges 2–12 - NCT03533985Recruiting
Music therapy for newborns in the NICU with withdrawal symptoms
This study looks at whether music therapy can help infants who are born with neonatal abstinence syndrome (withdrawal symptoms after birth). It may support comfort, bonding, or overall newborn well-being while they’re in the NICU.
New Orleans, LouisianaAges 6 months+ - NCT06884423Recruiting
Balloon treatment for severe diaphragmatic hernia in unborn babies
This trial tests if placing a temporary balloon in the baby's windpipe before birth can improve survival for babies with a severe form of a diaphragmatic hernia. It is for pregnant women carrying a single baby with a left-sided hernia that is more severe or a right-sided hernia, and whose liver is up in the chest.
Philadelphia, PennsylvaniaAges 18 years+ - NCT04272515Recruiting
Learn from tissue or samples from biliary atresia patients
This study looks to better understand biliary atresia by studying patient information and/or samples. It may help researchers learn why the condition happens and how to improve care.
Paris, DeAges Any age - NCT07720570Enrolling by invitation
Bleomycin electrosclerotherapy for slow-flow vascular malformations
This trial tests a treatment called bleomycin electrosclerotherapy for people with slow-flow vascular malformations (abnormal blood vessels that do not flow quickly). The goal is to see if this treatment works well and is safe for these conditions.
Copenhagen, Capital Region of DenmarkAges 2 years+ - NCT06664866Enrolling by invitation
AI Screening for Heart Amyloidosis
This trial tests an AI program that looks at your heart ultrasound (echocardiogram) to find possible signs of cardiac amyloidosis early. It helps doctors decide if more testing is needed.
Los Angeles, CaliforniaAges 22 years+ - NCT06564389RecruitingPhase 1
First-in-human study of PF-07832837 in healthy adults and eczema patients
This trial is testing a new investigational medicine (PF-07832837) for safety in healthy adults and in people with moderate to severe atopic dermatitis (eczema). It is a first-in-human study, so it looks at how well the body tolerates the medicine.
Anaheim, CaliforniaAges 18–70
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.