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
- NCT05577754RecruitingPhase 2
Trial tests alpelisib for MCAP with PIK3CA mutations
This Phase 2 study tests alpelisib in children and adults with MCAP, a condition caused by a specific PIK3CA gene mutation. The goal is to see if the treatment is effective and safe, while carefully monitoring blood sugar and organ function.
AmiensAges 2–40 - NCT05589714Recruiting
Study your rare eye gene and track retinal disease over time
This study builds a registry and tracks the natural history of rare retinal dystrophies while also testing people for disease-causing gene variants. It may help researchers better understand what causes retinal degeneration and how it progresses.
Little Rock, ArkansasAges 4 years+ - NCT05554835Recruiting
Mitochondrial disease registry and history study
This study collects information about people who have a suspected or confirmed mitochondrial disease. It aims to better understand how the disease looks over time, which can help future treatments.
InnsbruckAges Any age - NCT05579548Recruiting
Study of Pegvaliase use in pregnancy and breastfeeding for PKU
This study looks at how taking Pegvaliase during pregnancy and breastfeeding affects pregnancy, baby health, and early infant outcomes in people with PKU. It may help improve care guidance for patients and babies exposed to Pegvaliase before birth.
Wilmington, North CarolinaAges Any age - NCT05568719RecruitingPhase 3
Testing gene therapy for hemophilia A or B
This Phase 3 trial is checking how safe and effective two gene therapies are for people with hemophilia A or hemophilia B. It only includes people who already received the study medicines through specific Pfizer studies, so it’s mainly for that existing participant group.
Rancho Cordova, CaliforniaAges 18 years+ - NCT05552755RecruitingPhase 1/Phase 2
Drug trial for FAP to reduce pre-cancer growth
This early-phase trial studies REC-4881 in adults with familial adenomatous polyposis (FAP), a condition that causes many colon/rectum and duodenal polyps. It aims to see whether the treatment can safely help control or shrink polyp growth in people who have had bowel surgery.
Scottsdale, ArizonaAges 18 years+ - NCT05582993RecruitingPhase 3
Study of rVWF for severe bleeding disorder in children
This Phase 3 trial tests vonicog alfa (an rVWF treatment) to prevent and control bleeding in children with severe von Willebrand disease (vWD). You may be able to join if your child has severe vWD and has been on prior clotting factor treatment with ongoing bleeding despite that care.
Birmingham, AlabamaAges Up to 17 years - NCT03311503RecruitingPhase 1/Phase 2
Gene therapy for X-linked SCID in young children
This trial tests a gene therapy using a lentivirus to give missing immune system instructions in children with X-linked SCID (SCID-X1). It also uses a low dose of targeted chemotherapy (busulfan) to help the new genes work, and it requires long-term follow-up for safety.
Los Angeles, CaliforniaAges birth–5 years - NCT04166526Recruiting
Brain and brain-vessel MRI study in kids with sickle cell
This study uses MRI scans to understand how the brain and blood vessels are affected in children with sickle cell disease, including before and after certain treatments. It also includes healthy children for comparison and may help improve future monitoring and care.
Boston, MassachusettsAges 8–18 - NCT02297724Recruiting
MRI checks placental health in twin or single growth restriction
This trial uses an MRI scan to look at placental health in pregnancies where the baby (or one twin) is not growing as expected. The goal is to better understand placental problems and how they may affect baby growth.
Boston, MassachusettsAges 18–45 - NCT04770519Recruiting
Family genetic study for eye misalignment and nystagmus
This study looks at genetics in families where eye misalignment (strabismus) and/or constant eye shaking (nystagmus) runs. It may help researchers understand the causes and guide future testing or treatments.
Boston, MassachusettsAges Any age - NCT05504837RecruitingPhase 1
Test KB407 inhaled treatment for adults with cystic fibrosis
This Phase 1 study tests the safety of KB407 and how it works in adults with cystic fibrosis (CF). It may help researchers understand whether this inhaled treatment could become a future option for CF.
Gainesville, FloridaAges 18 years+ - NCT05518188RecruitingPhase 1/Phase 2
Gene therapy trial for a childhood AP4M1 brain disorder
This trial studies a one-time gene therapy meant to help children with SPG50 disease caused by changes in the AP4M1 gene. Researchers will give the treatment and closely monitor safety and early signs of benefit.
Dallas, TexasAges 4 months–10 years - NCT05514340RecruitingPhase 2
Test drug for brain injury after low oxygen at birth
This Phase 2 study tests whether sovateltide can improve safety and outcomes for babies whose brains may have been injured by low oxygen around birth. It focuses on babies who show signs of moderate to severe injury soon after delivery, and who receive standard supportive care.
Mangalore, KarnatakaAges Any age - NCT05508932Recruiting
Heart rhythm study for people with transfusion-dependent beta-thalassemia
This trial studies atrial fibrillation (an irregular heartbeat) in people with beta-thalassemia who need regular blood transfusions. It may help doctors better understand how this heart rhythm problem affects you and guide future care.
FerraraAges 18 years+ - NCT05531630Enrolling by invitation
Xylitol versus saline rinses for sinus symptoms in adults with CF
This study compares two kinds of nasal rinse packets—xylitol versus plain saline—to see which better reduces sinus symptoms. It may help adults with cystic fibrosis and long-term sinus inflammation feel better with routine, at-home nasal care.
LeuvenAges 18 years+ - NCT05508971Recruiting
Personalized tonsil surgery for sleep apnea in children with Down syndrome
This study tests whether a personalized surgical approach can treat moderate to severe obstructive sleep apnea (OSA) in children with Down syndrome. The goal is to improve breathing during sleep and overall sleep health.
Aurora, ColoradoAges 2–17 - NCT05528796Enrolling by invitation
Finding causes of non-immune fluid buildup in babies
This study looks for the underlying cause of “non-immune hydrops fetalis,” a serious condition where a baby has abnormal fluid buildup. It focuses on families whose usual genetic tests didn’t find an answer (or weren’t completed before birth).
San Francisco, CaliforniaAges 18–60 - NCT05527652Recruiting
Breathing tube device to help blocked upper airways in children
This study tests a self-supporting breathing tube placed through the nose during sleep to reduce upper airway blockage and improve breathing in children. It may help children who have sleep apnea symptoms, especially after tonsil/adenoid treatment or when tonsil removal isn’t possible.
Ann Arbor, MichiganAges 3–21 - NCT05528744Recruiting
Study genes and symptoms in ANKRD17-related CAGS
This study looks at how a specific gene change in ANKRD17 relates to the symptoms, brain/scan findings, and brain-cells in people with Chopra-Amiel-Gordon syndrome (CAGS). It may help families understand the condition better and connect gene results to what is seen clinically.
Boston, MassachusettsAges Any age - NCT05535361Recruiting
Testing a bowel device for short bowel syndrome patients
This trial studies whether the Eclipse XL1 system is safe and may help people with short bowel syndrome, in both children and adults. It will check how well the approach works and watch for side effects over the study period.
Palo Alto, CaliforniaAges 3 months–65 years - NCT05548283RecruitingPhase 4
Standard IV antibiotic timing for cystic fibrosis lung flare-ups
This study standardizes how IV aminoglycoside antibiotics are given during a 14-day treatment for cystic fibrosis (CF) lung flare-ups. It may help make treatment more consistent and easier to manage for people who need IV antibiotics.
Birmingham, AlabamaAges 6 years+ - NCT01962415RecruitingPhase 2
Reduced-intensity stem cell transplant for non-cancer disorders
This trial tests whether a gentler (reduced-intensity) conditioning treatment before a stem cell transplant works for non-cancer diseases. It uses specific donor stem cell matches and checks heart, lung, liver, and kidney function to help lower transplant stress while still aiming for benefit.
Pittsburgh, PennsylvaniaAges 2 months–55 years - NCT05421676Recruiting
Fetal airway procedure for severe congenital diaphragmatic hernia
This trial studies a fetal procedure called FETO that places a small balloon in the baby’s windpipe to help the lungs grow in severe congenital diaphragmatic hernia (CDH). It may help babies with very small lung development after birth, but you must meet specific pregnancy, genetic, and safety requirements.
Sacramento, CaliforniaAges 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.