Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,767 recruiting studies in this area right now.
By phase
- Not applicable2,684
- Phase 2280
- Phase 1241
- Phase 3210
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)38
- 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
- Massachusetts108
- Arizona87
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,767 total
- NCT06160310Recruiting
TSC & LAM Pregnancy Registry Study
This study is a registry that gathers information from pregnant women with Tuberous Sclerosis Complex (TSC) or Lymphangioleiomyomatosis (LAM), as well as infants born to them. The goal is to better understand how these conditions affect pregnancy and the baby's health.
Cincinnati, OhioAges Any age - NCT06159166RecruitingPhase 1/Phase 2
Mirdametinib for NF1 skin bumps
This study tests an oral drug called mirdametinib to see if it can shrink skin bumps caused by NF1. If you have at least 24 of these bumps on your skin and are in decent health, you may be able to join.
Baltimore, MarylandAges 18 years+ - NCT06174220RecruitingPhase 2
Tideglusib for genetic arrhythmogenic cardiomyopathy
This trial tests a medication called tideglusib to see if it can reduce extra heartbeats in people with a genetic form of arrhythmogenic cardiomyopathy. It may help stabilize the heart's rhythm and slow disease progression.
Calgary, AlbertaAges 18 years+ - NCT06163482Recruiting
Meal Hormone Study in Cystic Fibrosis
This study looks at how the body processes a mixed meal in people with cystic fibrosis who are on CFTR modulator therapy. It may help researchers understand how these medications change hormone and blood sugar responses.
Cincinnati, OhioAges 18–45 - NCT05518617Recruiting
Imaging study for inherited Parkinson’s using PET, SPECT, and spinal fluid
This trial tests how well special brain scans (PET/SPECT) and spinal fluid tests can show changes in people with inherited (genetic) Parkinson’s. It may help researchers understand what’s happening in the brain and improve how these conditions are measured.
Exeter, DevonAges 25–80 - NCT06004986RecruitingPhase 4
Lowering Dupilumab Dose in Controlled Eczema
This study looks at whether people with well-controlled eczema can safely lower their dose of dupilumab (an injected medication). It aims to see if a reduced dose still keeps eczema under control.
Amsterdam, North HollandAges 18 years+ - NCT06145373RecruitingPhase 4
Fitusiran for preventing bleeds in severe hemophilia A
This study tests a new medicine called fitusiran to help prevent bleeding episodes in people with severe hemophilia A who are already receiving emicizumab. It may offer an additional treatment option for those with or without inhibitors.
Los Angeles, CaliforniaAges 12 years+ - NCT06150716RecruitingPhase 1
Study of a new drug for Pelizaeus Merzbacher disease in boys
This trial is testing an experimental drug (ION356) given by a lumbar puncture to see if it is safe and how it works in boys with Pelizaeus Merzbacher disease (PMD). The drug is designed to target the genetic cause of PMD.
Atlanta, GeorgiaAges 2–17 - NCT06138639RecruitingPhase 1/Phase 2
Gene therapy SGT-003 for Duchenne muscular dystrophy
This trial tests a new gene therapy called SGT-003 for children with Duchenne muscular dystrophy. It aims to help the body produce a working version of dystrophin, the protein missing in Duchenne.
Little Rock, ArkansasAges birth–17 years - NCT06146231Recruiting
Breast reconstruction with Motiva implants and fat grafting
This study tests a new breast reconstruction method using Motiva Flora implants and your own fat to rebuild the breast after a mastectomy. It is for women who need tissue expansion as part of their reconstruction and have completed cancer treatments at least one year earlier.
GhentAges 18 years+ - NCT06138743Enrolling by invitationPhase 1/Phase 2
Investigational treatment for adult-onset myotonic dystrophy type 1
This trial is testing a new drug called SRP-1003 for people with myotonic dystrophy type 1 (DM1) who developed symptoms after age 12. The goal is to see if it can reduce muscle problems like myotonia (difficulty relaxing muscles) and improve daily function.
Liverpool, New South WalesAges 18–65 - NCT06131983Enrolling by invitationPhase 1/Phase 2
Study of SRP-1001 for adults and teenagers with FSHD1
This study tests a new medicine called SRP-1001 to see if it can help people with a type of muscular dystrophy called FSHD1. It aims to slow down muscle weakness and improve quality of life.
Liverpool, New South WalesAges 16–70 - NCT06148311Enrolling by invitationPhase 2
Dexmedetomidine film for autonomic crises in Familial Dysautonomia
This study tests a new dissolvable film containing dexmedetomidine (a medicine that calms overactive stress responses) for people with Familial Dysautonomia who experience sudden episodes called autonomic crises. It aims to treat these crises at home without needing a hospital visit.
New York, New YorkAges 16–80 - NCT06144125RecruitingPhase 4
Blood management trial for heart surgery patients
This trial compares two treatments (prothrombin complex concentrate and fresh frozen plasma) for managing bleeding during heart surgery. It aims to find which approach works better and is safer for patients.
Seoul, SeoulAges 20–75 - NCT06153459Recruiting
Delayed cord clamping for babies with heart disease
This study looks at how long to wait before clamping the umbilical cord in babies born with a heart condition. It helps doctors understand the best timing for these newborns.
Birmingham, AlabamaAges 9 months–10 months - NCT06152302Recruiting
Water mobility test for infants with SMA
This study tests how well infants with spinal muscular atrophy (SMA) can move in water. The goal is to see if gentle water exercises can help with muscle weakness and overall development.
GarchesAges Up to 1 year - NCT06150560RecruitingPhase 3
Blood pressure medicine study for people with repaired coarctation of the aorta
This trial tests a type of blood pressure medicine (an angiotensin-II receptor blocker) to see if it can help prevent changes in the heart's structure. It is for people who have had surgery for a coarctation of the aorta and now have mild to moderate high blood pressure.
Rochester, MinnesotaAges 18 years+ - NCT06147414Recruiting
Blood test for genetic disorders in pregnancy
This study tests a safer blood test to check for certain genetic disorders during pregnancy, instead of an invasive procedure like amniocentesis. It's for pregnant women who are at risk of passing on a known genetic condition.
ParisAges 18 years+ - NCT06136767Recruiting
Registry for systemic eczema treatments
This study is a registry for people with eczema (atopic dermatitis) who are under 26 and have taken or plan to take body-wide treatments like pills or injections. By joining, you help researchers track how these treatments work over time.
Baltimore, MarylandAges 1–26 - NCT06139510Recruiting
Understanding Pain in Sickle Cell Disease
This study looks at what causes pain in people with sickle cell disease. They hope to learn more about pain patterns to better help patients manage it.
Durham, North CarolinaAges 15–40 - NCT06150950Recruiting
Exercise rehab for Fontan failure
This trial tests if a supervised exercise program (cardiac rehabilitation) can help people who have had a Fontan procedure and are now experiencing heart failure symptoms. It aims to improve your strength, stamina, and overall well-being.
Stanford, CaliforniaAges 18 years+ - NCT06144957Enrolling by invitation
SLC13A5 deficiency natural history study (US only)
This study follows people with SLC13A5 deficiency (a rare genetic condition that affects brain development) to learn more about the disease over time. It collects health information, assessments, and samples to help understand the condition and plan future treatments.
Palo Alto, CaliforniaAges Any age - NCT06136572Recruiting
Study on assertiveness and emotions in Tourette's
This study looks at how people with Tourette's syndrome manage emotions and assertiveness. It may help doctors understand the challenges patients face.
Clermont-Ferrand, FranceAges 18 years+ - NCT02000089RecruitingPhase 3
Pancreas screening study for people at high cancer risk
This Phase 3 study tests a structured plan for checking the pancreas early in people with a higher-than-usual risk of pancreatic cancer. The goal is to find changes sooner, when treatment may be easier.
New Haven, ConnecticutAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,767 recruiting medical genetics studies from the U.S. registry right now, out of 5,497 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.