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
- NCT07564297Enrolling by invitation
Long-term outcomes after fetal lung surgery for diaphragmatic hernia
This study follows babies born after a special fetal surgery (FETO) that places a temporary balloon in the baby's windpipe to help the lungs grow when they have a diaphragmatic hernia—a hole in the muscle that separates the chest from the belly. Researchers want to understand how these children do over time after this procedure.
Rochester, MinnesotaAges 18–50 - NCT04789746Enrolling by invitation
Physical fitness program for children with mobility challenges
This study tests a physical fitness program designed for children who have mobility challenges due to conditions like cerebral palsy. The program aims to improve fitness and overall well-being in a safe and supportive environment.
Chicago Heights, IllinoisAges 6–18 - NCT05948943RecruitingPhase 2/Phase 3
Alpelisib for lymphatic malformations with a PIK3CA change
This trial tests alpelisib (a targeted medicine) for people who have lymphatic malformations (LyM) that cause symptoms and have a PIK3CA mutation. It may help shrink or control these lesions when other procedures are delayed until after the first 24 weeks.
Oakland, CaliforniaAges birth–100 years - NCT07220785RecruitingPhase 3
Testing mibavademab for generalized lipodystrophy in adults and children
This trial tests a new drug called mibavademab for people with generalized lipodystrophy, a condition where the body can't store fat properly, leading to problems like diabetes and high triglycerides. It aims to see if the drug safely improves these metabolic issues.
Ann Arbor, MichiganAges 2 years+ - NCT06481306RecruitingPhase 1/Phase 2
Testing a new drug for sickle cell disease in healthy people and patients
This early-phase study tests a new drug (BMS-986470) for people with sickle cell disease who have frequent pain crises. The goal is to see if it can safely reduce crises. It includes a small group of healthy volunteers as well.
Birmingham, AlabamaAges 18 years+ - NCT06888388Recruiting
Safety of nipple-sparing mastectomy for women with high-risk genes
This study looks at the long-term safety of a type of breast surgery (nipple-sparing mastectomy) in women who carry certain inherited gene changes (BRCA1, BRCA2, PALB2, TP53, CDH1, or PTEN) that increase their risk of breast cancer. The goal is to understand how safe this surgery is over time for these women.
New Haven, ConnecticutAges 18–90 - NCT07486934RecruitingPhase 3
Study of DYNE-101 for Myotonic Dystrophy Type 1
This trial tests an experimental drug called DYNE-101 to see if it can help people with myotonic dystrophy type 1 (DM1). The study aims to improve muscle function and daily life. It is for adults who can walk and stand up from a chair without help.
La Jolla, CaliforniaAges 16 years+ - NCT07223658RecruitingPhase 1/Phase 2
Study of ARO-DIMERPA for high triglycerides and cholesterol
This trial tests an experimental drug, ARO-DIMERPA, for people with very high triglycerides and cholesterol. It aims to lower those levels and reduce heart risks.
Charlestown, New South WalesAges 18 years+ - NCT06997588RecruitingPhase 2
Alpelisib for pediatric and adult PROS
This trial tests a drug called alpelisib for children and adults with a rare overgrowth condition called PROS that is caused by a PIK3CA gene change. It aims to see if the drug can safely shrink overgrowth and improve symptoms.
St Louis, MissouriAges 2–100 - NCT05237973Recruiting
Neuromuscular ultrasound study for healthy people and patients
This study uses an ultrasound scan to look at muscles and nerves (including the breathing muscle). It may help researchers better understand neuromuscular problems and how well ultrasound can detect them.
Bethesda, MarylandAges 18–110 - NCT07771621Enrolling by invitationPhase 1
PET scan for detecting heart amyloidosis
This study tests a new PET imaging agent that may help doctors see amyloid buildup in the heart more clearly. It may help people with heart amyloidosis or those suspected of having it.
St Louis, MissouriAges 18 years+ - NCT07503444RecruitingPhase 3
Fenfluramine for Rett syndrome symptoms
This study tests whether fenfluramine, a medication already used for seizures, can help people with Rett syndrome. It aims to see if it improves daily life and reduces symptoms.
Little Rock, ArkansasAges 5–35 - NCT07766980Recruiting
Nutritional supplement for quality of life in Duchenne muscular dystrophy
This study tests whether a daily nutritional supplement called VM100 can improve quality of life for people with Duchenne muscular dystrophy. If you are 8 or older and your medications have been stable for at least 3 months, you may be able to participate.
Gainesville, FloridaAges 6 years+ - NCT06957691RecruitingPhase 2
Fezolinetant for hot flashes in men on hormone therapy
This study tests a medication called fezolinetant to see if it reduces hot flashes in men undergoing hormone therapy for prostate cancer. If you experience frequent hot flashes, this treatment might help alleviate them.
Boston, MassachusettsAges 40 years+ - NCT07332091RecruitingPhase 2
Study of vamifeport for adults with iron overload from hereditary hemochromatosis
This study tests an investigational drug called vamifeport to see if it can reduce iron levels in the body and improve outcomes for people with hereditary hemochromatosis (a genetic condition causing too much iron absorption). Participation may help manage iron overload and potentially reduce the need for regular blood removal treatments.
Gilbert, ArizonaAges 18 years+ - NCT00305305Recruiting
Brain development study for rare brain conditions
This study looks at how the brain develops in people with certain rare conditions that affect brain structure. It may help researchers understand these conditions better and could lead to improved care.
San Francisco, CaliforniaAges Any age - NCT07282210RecruitingPhase 2
New medicine for sickle cell hemolysis
This trial tests a new medicine (SIL-8301) to help control red blood cell breakdown (hemolysis) in people with sickle cell disease. It is for those who are already taking hydroxyurea and have had few pain crises but still have complications from hemolysis.
Toronto, OntarioAges 16–35 - NCT04398628Recruiting
Study of non-cancer blood disorders in people with bleeding or clotting
This study follows people with inherited or acquired non-cancer blood disorders to better understand symptoms, causes, and how different treatments work over time. You may be placed into a disorder-specific group, depending on your diagnosis and testing results.
Phoenix, ArizonaAges Any age - NCT07453602RecruitingPhase 1
Study of ARQ-234 for healthy adults and those with atopic dermatitis
This trial tests a new medication called ARQ-234 in healthy adults and people with moderate-to-severe atopic dermatitis (eczema). The study looks at how the body handles single and multiple doses, and if it can help treat eczema.
Fair Lawn, New JerseyAges 18–65 - NCT07240259Enrolling by invitation
Using a donated aortic patch to rebuild a child's windpipe
This trial tests a new way to repair a child's windpipe using a piece of donated aorta (a blood vessel) as a patch. It's for children who have severe breathing problems from a narrowed or damaged windpipe and cannot have standard surgery.
TaipeiAges birth–18 years - NCT07354724RecruitingPhase 1
Study of DNL952 for adults with late-onset Pompe disease
This trial tests a new drug, DNL952, in adults with late-onset Pompe disease. It aims to see if the drug is safe and how it works in the body, with different groups for people currently on enzyme replacement therapy or those who haven't had it in the past year.
Irvine, CaliforniaAges 18–75 - NCT07010705Recruiting
Digital measures for Huntington's disease trials
This study uses smartphone and wearable sensors to track movement and thinking in people with Huntington's disease. It aims to find better ways to measure how the disease progresses in clinical trials.
Rochester, New YorkAges 25–65 - NCT06807281RecruitingPhase 3
Abrocitinib for children with eczema: long-term study
This study tests the long-term safety and effectiveness of abrocitinib (Cibinqo) for children aged 6 to 12 with moderate to severe eczema that hasn't improved with creams. It may help their skin clear and reduce itching.
Birmingham, AlabamaAges 2–11 - NCT06605378Recruiting
Antibody and cytokine study for people with CGD
This study is checking levels of antibodies and immune-signaling molecules (cytokines) in people with chronic granulomatous disease (CGD). It aims to better understand the immune system in CGD, which may help with future treatments.
Montgomery, AlabamaAges Any age
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.