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
- NCT05493605Recruiting
MRI study of heart involvement in Wilson disease
This study looks at whether Wilson disease affects the heart, using MRI scans (and possibly contrast dye). Your results may help doctors better understand cardiac (heart) involvement and how it progresses in Wilson disease.
ParisAges 18 years+ - NCT05499091Recruiting
Study rare disease genetics using family and health data
This study tries to find genetic causes for rare diseases that are not yet understood. It uses a national rare-disease data bank and collects consent from patients and sometimes close family members.
AngersAges Any age - NCT05463133RecruitingPhase 1/Phase 2
Stem cell transplant for chronic granulomatous disease
This study tests a stem cell transplant using a special conditioning regimen to treat chronic granulomatous disease (CGD), a condition that causes repeated infections and inflammation. The transplant aims to replace faulty immune cells with healthy ones from a donor, potentially reducing infections and improving quality of life.
Bethesda, MarylandAges 4–65 - NCT05492799Enrolling by invitationPhase 4
Study of AX 250 for MPS IIIB in children
This Phase 4 trial studies how safe, tolerable, and helpful ICV AX 250 is for people with MPS IIIB. It is for participants who already finished a prior AX 250 study and meet specific health and eligibility checks.
Oakland, CaliforniaAges Any age - NCT05477563RecruitingPhase 3
One-time gene therapy for severe sickle cell and transfusion anemia
This trial tests a single dose of gene therapy (CTX001) to improve outcomes for people with severe sickle cell disease or transfusion-dependent beta-thalassemia. It aims to see how well it works and whether it is safe, especially after a planned stem cell transplant process.
New York, New YorkAges 12–35 - NCT05491525RecruitingPhase 2/Phase 3
Vibegron for children with nerve bladder using intermittent catheter
This study tests how well and how safely vibegron works long-term in children (ages 2 to under 18) with a nerve-related bladder condition, who regularly use intermittent catheterization. It also tracks how the body processes the medicine and whether it helps bladder control over time.
Little Rock, ArkansasAges 2–17 - NCT05462106RecruitingPhase 1/Phase 2
ACI-24.060 study for early Alzheimer’s in adults and Down syndrome
This Phase 1/2 study tests an Alzheimer’s treatment called ACI-24.060 to see if it affects the disease in people with early Alzheimer’s changes. It includes two groups: older adults with early symptoms and people with Down syndrome who also show Alzheimer’s-related changes on brain scans.
Phoenix, ArizonaAges 35–85 - NCT05462587RecruitingPhase 3
Test drug AVTX-803 for Leukocyte Adhesion Deficiency type II
This Phase 3 trial tests whether AVTX-803 can help prevent or improve infections in people with Leukocyte Adhesion Deficiency (LAD) type II. The study also checks how safe the drug is.
Rochester, MinnesotaAges 6 months–75 years - NCT05492266Recruiting
Breathing muscle training for nasal speech in children
This trial tests whether strengthening the muscles you use to breathe out can help children ages 5–17 who have too much nasal sound in their speech. If it works, it could reduce the need for surgery.
Pittsburgh, PennsylvaniaAges 5–17 - NCT05462600Enrolling by invitation
Breathing monitoring test in non-smokers
This study measures how you breathe and how well oxygen and carbon dioxide move in and out of your lungs. It’s mainly a monitoring study to help researchers understand breathing patterns during a breathing test.
La Jolla, CaliforniaAges 18 years+ - NCT05484570Recruiting
Study of how rare DNA repair disorders affect the body over time
This natural history study follows people with specific DNA repair disorders to better understand symptoms and how they change over time. It may help researchers plan future treatments by mapping what complications to expect and when.
Minneapolis, MinnesotaAges 6 months+ - NCT05468580Recruiting
Release or sham surgery for clogged celiac artery
This trial studies whether a surgical “release” of the celiac artery (to improve blood flow) helps people with MALS who have specific symptoms and artery narrowing. Some people will have a sham (placebo) procedure to compare outcomes, so you’ll be closely monitored either way.
Enschede, OverijsselAges 18 years+ - NCT05489549Recruiting
Study of heart amyloid risk in people with TTR gene variants
This study looks at people who carry certain TTR gene variants, which can cause a specific type of heart amyloid buildup. It also includes people with symptoms, to understand how the condition develops and how it may be monitored.
New York, New YorkAges 30–80 - NCT05461222Recruiting
Balloon treatment before birth for severe diaphragmatic hernia
This study looks at placing a small balloon in a baby’s windpipe before birth to help severe congenital diaphragmatic hernia (CDH). The goal is to improve lung growth and birth outcomes by testing whether this timing and method can help babies with the most severe cases.
Stanford, CaliforniaAges 18–50 - NCT05502133Recruiting
Finding genes that affect acute intermittent porphyria
This study aims to find genes that may affect acute intermittent porphyria (AIP), a rare genetic condition that can cause sudden, severe attacks. By studying blood, saliva, and urine from family members, researchers hope to better understand and possibly improve treatment for this condition.
New York, New YorkAges 12 years+ - NCT05473637Recruiting
Study causes of small vessel brain disease in stroke and memory issues
This trial looks at people who may have “small vessel” problems in the brain, which can cause stroke, memory trouble, walking changes, movement symptoms, or headaches. It may help researchers better understand the genetic and non-genetic causes, which could improve future diagnosis and treatment.
TaipeiAges 18 years+ - NCT05489783Recruiting
Study board for adults with NF1 and glioma
This study collects and reviews past and future health records for adults who have both neurofibromatosis type 1 (NF1) and a brain tumor called glioma. The goal is to better understand these conditions and how they progress, which can help guide future research and care.
Basking Ridge, New JerseyAges 18 years+ - NCT05500807RecruitingPhase 1
Emicizumab study for severe von Willebrand disease or overlap disorder
This Phase 1 trial studies how well and safely emicizumab works for people with severe von Willebrand disease (VWD) or VWD plus hemophilia A. Emicizumab is a preventive medicine given regularly to reduce bleeding risk.
Orange, CaliforniaAges birth–90 years - NCT05444127Recruiting
Study of oral health in people with Wilson’s disease
This study compares oral (mouth and teeth) health in people with Wilson’s disease versus people without it. It aims to see whether Wilson’s disease is linked to specific dental and imaging findings, which could help with future prevention and care.
Ivry-sur-SeineAges 18 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+ - NCT05427006Recruiting
Dental implant follow-up registry for zirconia tooth implants
This registry study follows adults after getting specific zirconia dental implants to track how they do over time. It helps the company and doctors understand safety and real-world performance of these implant products.
BerlinAges 18 years+ - NCT05450653Recruiting
FETO balloon treatment for severe birth diaphragm hernia
This trial tests a special pregnancy procedure called FETO to help babies born with severe congenital diaphragm hernia (CDH) breathe better after birth. It may help by improving lung growth, but it requires close follow-up at a Chicago fetal center.
Chicago, IllinoisAges 18 years+ - NCT05448326Recruiting
Revisiting test results for children and adults without a diagnosis
This study re-checks earlier genetic testing for people who still do not have a diagnosis for a developmental or physical difference. It may offer new genetic testing (like genome sequencing) using new or stored samples to help find a cause when the first results were unclear or negative.
DijonAges Any age - NCT05446272Recruiting
Helps premature babies breathe during breathing tube removal
This trial tests a breathing-support method (called DIVA) to help premature babies breathe safely when the breathing tube is taken out. It may help more babies transition off the ventilator and avoid breathing problems during extubation.
Little Rock, ArkansasAges birth–2 months
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.