Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- 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
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT06529042Enrolling by invitation
Sickle Cell Risk in Pregnancy Tool Study
This study is developing a risk assessment tool to help predict complications in pregnant women with sickle cell disease. It reviews medical records from women who have received prenatal care and given birth at participating hospitals.
Baltimore, MarylandAges 16–60 - NCT06497673Enrolling by invitation
Human cell atlas building project
This study is building a detailed map of human cells using samples from people of all ages, both healthy and with various conditions. It aims to understand how cells work in health and disease, which could lead to better treatments.
CambridgeAges Any age - NCT06491927Enrolling by invitation
Long-term follow-up for RGX-202 in Duchenne muscular dystrophy
This long-term follow-up study watches people who previously received the experimental gene therapy RGX-202 for Duchenne muscular dystrophy. It checks how patients are doing over time and does not involve any new treatment.
Little Rock, ArkansasAges Any age - NCT06464133Enrolling by invitation
Filaggrin gene study in Latinx patients with eczema
This study looks for gene changes (filaggrin mutations) in Latinx/Hispanic patients with atopic dermatitis (eczema) to better understand how these genes affect the condition. It involves a simple skin test or saliva sample.
Philadelphia, PennsylvaniaAges Any age - NCT06431893Enrolling by invitationPhase 3
Long-term study of pegtibatinase for classical homocystinuria
This trial is a long-term follow-up study examining the safety and effectiveness of pegtibatinase for people with classical homocystinuria (HCU). It is open to those who have recently taken part in or finished the HARMONY or COMPOSE studies.
Phoenix, ArizonaAges 5–65 - NCT06412432Enrolling by invitation
Exercise and rehab for heart amyloidosis
This study tests whether a supervised exercise and rehabilitation program can help people with a specific type of heart amyloidosis (ATTRwt) feel better and improve their heart function. It may be a good fit if you have stable heart failure and can safely exercise.
NaplesAges 18 years+ - NCT06412328Enrolling by invitation
Psychoeducation for parents of children with DMD
This study offers a psychoeducation program for parents of children with Duchenne Muscular Dystrophy. It aims to provide support and education to help you care for your child.
Ankara, CankayaAges 18–65 - NCT06399367Enrolling by invitation
New imaging for leg swelling conditions
This study uses a special imaging machine (MSOT) to look at different types of swelling in the legs, such as lipedema and lymphedema. It aims to help doctors better understand and tell these conditions apart.
Göttingen, Lower SaxonyAges 18–80 - NCT06396988Enrolling by invitation
Novamin for weak enamel in children's teeth
This study tests a special toothpaste ingredient (Novamin) that may help repair weak enamel on permanent back teeth and front teeth in children and teens. The treatment is applied by a dentist and may strengthen the teeth and reduce sensitivity.
Pavia, LombardyAges 7–14 - NCT06369974Enrolling by invitationPhase 1/Phase 2
Experimental ASO treatment for TUBB4A-related leukodystrophy
This trial tests a single patient's response to an experimental genetic treatment (called an ASO) for a rare brain disease caused by changes in the TUBB4A gene. The goal is to see if the treatment can improve symptoms related to the condition H-ABC.
Boston, MassachusettsAges 4 years+ - NCT06363760Enrolling by invitation
Long-term follow-up after EDIT-301 gene therapy
This long-term follow-up study monitors people with sickle cell disease or transfusion-dependent beta-thalassemia who have already received the gene-editing therapy EDIT-301. It helps researchers understand how safe and effective the treatment is over time.
Oakland, CaliforniaAges 12–50 - NCT06363526Enrolling by invitation
Digital breathing exercises for children with muscular dystrophy
This trial tests a 5-week digital breathing exercise program for children with Duchenne or Becker muscular dystrophy. It aims to improve lung function using simple exercises done at home.
MálagaAges 5–20 - NCT06342999Enrolling by invitation
Fetal heart valve procedure for underdeveloped left heart
This trial tests a procedure called fetal aortic valvuloplasty (opening the baby's heart valve while still in the womb) to help the left side of the heart grow better. It's for pregnant women whose babies have a narrow aortic valve and signs that the left heart may not develop fully.
Rochester, MinnesotaAges Up to 45 years - NCT06338319Enrolling by invitation
Book sharing study for toddlers with cleft palate
This study tests whether a book-sharing program can help toddlers (20-32 months) who had cleft palate repair improve their language and communication skills. Families will use a smartphone or tablet to record and send videos.
Seattle, WashingtonAges 1.7 years–2.7 years - NCT06335862Enrolling by invitation
Surgery to stop windpipe collapse in babies with esophageal atresia
This trial tests a surgery called posterior tracheopexy to prevent the windpipe from collapsing in babies with esophageal atresia and tracheomalacia. It may help your child breathe more easily.
RotterdamAges 8 months+ - NCT06330324Enrolling by invitation
Reproductive choices for genetic skin conditions
This study looks at the choices families have when they carry a genetic skin condition. It aims to learn more about how prenatal testing and IVF with genetic testing can help.
Maastricht, LimburgAges Any age - NCT06328764Enrolling by invitationEarly Phase 1
CS-101 for patients with beta-thalassemia
This trial tests a new treatment called CS-101 for people with beta-thalassemia who need regular blood transfusions. It aims to see if CS-101 can help reduce transfusion needs.
Nanning, GuangxiAges 6–35 - NCT06312189Enrolling by invitationPhase 3
Long-term safety study of valbenazine for Huntington's chorea in Canada
This study is for people in Canada who have already been taking valbenazine for Huntington's chorea in a previous study (NBI-98854-HD3006). It tests the long-term safety of the medicine and continues for up to 156 weeks.
Vancouver, British ColumbiaAges 18 years+ - NCT06303986Enrolling by invitation
Observation study for newborns with or without NAS
This study is collecting information from two groups of newborns: those with Neonatal Abstinence Syndrome (NAS, caused by drug exposure before birth) and healthy newborns. The goal is to see if an automated system makes it easier to gather data without extra tests or procedures.
Albuquerque, New MexicoAges Up to 4 weeks - NCT06300723Enrolling by invitation
BRL-101 for severe sickle cell disease
This trial tests a new treatment called BRL-101 for people with severe sickle cell disease. The treatment uses your own stem cells, which are modified in the lab and then given back to you. It aims to reduce pain crises and improve your quality of life.
Nanning, GuangxiAges 3–35 - NCT06300502Enrolling by invitationPhase 1
Monthly injections for NF1 skin bumps
This study tests if a monthly injection of deoxycholate can shrink or reduce the number of visible skin bumps (cutaneous neurofibromas) in people with NF1. It is designed for adults with at least 6 bumps that can be treated and monitored.
Boston, MassachusettsAges 18–85 - NCT06285071Enrolling by invitation
Study of Alhemo for hemophilia A or B with inhibitors
This study is tracking how well Alhemo works in people with hemophilia A or B who have developed inhibitors (antibodies that block treatment). It is for patients of any age who have already started taking Alhemo as part of their regular care.
Toshima City, TokyoAges Any age - NCT06270719Enrolling by invitation
Comparing ELEVIDYS to standard care for Duchenne muscular dystrophy
This study compares the gene therapy ELEVIDYS (delandistrogene moxeparvovec) to usual treatments for people with Duchenne muscular dystrophy (DMD). It helps researchers understand how well ELEVIDYS works over time in real-world settings.
Little Rock, ArkansasAges 4 years+ - NCT06262399Enrolling by invitation
Long-term safety check for NTLA-2002 recipients
This study follows people who previously got the experimental drug NTLA-2002 in an Intellia trial. It checks long-term safety and health effects, even if you already stopped treatment.
Campbelltown, New South WalesAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,795 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.