Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- 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
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT06850038Recruiting
Long-term study of odevixibat in Alagille syndrome
This study follows people with Alagille syndrome who are already taking or starting odevixibat (Bylvay). It looks at how well the medicine works and how safe it is over a long period of time.
Los Angeles, CaliforniaAges Any age - NCT06853158Recruiting
Music therapy study for quality of life in sickle cell disease
This study tests if music therapy can improve quality of life for people with sickle cell disease who have chronic pain. You would join a music therapy group and share your feedback to help researchers see if this approach helps.
Cleveland, OhioAges 14 years+ - NCT06856330Recruiting
Trial on a new surgery for speech in children with cleft lip and palate
This trial tests a surgical technique (Furlow palatoplasty with a cheek muscle flap) to see if it improves speech development in young children who had a complete cleft lip and palate repaired previously. It may help children between 3 and 5 years old with non-syndromic conditions.
Al FayyumAges 3–5 - NCT06852612Recruiting
Dietary strategies for glycogen storage disease type I
This trial tests different diet strategies to help adults with GSDI (a metabolic condition also known as von Gierke disease) maintain stable blood sugars and avoid dangerous drops. It may help you learn how to better manage your condition through diet.
BernAges 18 years+ - NCT06849908RecruitingPhase 2
Baricitinib for treating intestinal Behçet's disease
This trial tests baricitinib, an oral medication, for people with intestinal Behçet's disease that hasn't improved with standard treatments. It aims to see if baricitinib can reduce symptoms and help heal gut ulcers.
Beijing, Beijing MunicipalityAges 18–65 - NCT06847165Recruiting
Trigeminal nerve stimulation for kids with prenatal alcohol exposure
This study tests a gentle, non-invasive nerve stimulation device to see if it can improve attention and behavior in children aged 8-12 who were exposed to alcohol before birth and have ADHD. If it helps, it could offer a new way to manage symptoms without medication.
Los Angeles, CaliforniaAges 8–12 - NCT06847282Recruiting
Motor skills study for children with FSHD
This study looks at how children with FSHD move and function over time. It uses walking tests and optional MRI scans to understand muscle changes. Your child's participation could help researchers learn more about FSHD progression in kids.
Palo Alto, CaliforniaAges 5–17 - NCT04252066Recruiting
Pregnancy and breastfeeding study for women with Fabry disease
This study follows pregnant and breastfeeding women with Fabry disease (and their infants) to better understand what happens during pregnancy and early life. You may or may not be taking migalastat, and the goal is to gather real-world information that could help future care.
Philadelphia, PennsylvaniaAges Any age - NCT06842355RecruitingPhase 2
TYRA-300 for children with achondroplasia (BEACH301)
This study tests an experimental oral medication (TYRA-300) for children with achondroplasia, a common form of dwarfism. The goal is to see if it can safely improve growth in children whose growth plates are still open.
Torrance, CaliforniaAges 3–10 - NCT06838143Recruiting
Ilaris real-world study for periodic fevers and sJIA
This study watches how people with certain periodic fever syndromes or a severe type of childhood arthritis (sJIA) do on the medicine Ilaris during their regular doctor visits. It collects information to see how well the medicine works in everyday care.
SeoulAges 2–100 - NCT06840496RecruitingPhase 3
Study of oral NA-921 vs placebo for girls and women with Rett syndrome
This trial tests an oral medication called NA-921 in females with Rett syndrome to see if it works better than a placebo. It may be an option for those who have a confirmed MECP2 gene mutation and stable seizure patterns.
Phoenix, ArizonaAges 5–20 - NCT06844214RecruitingPhase 1/Phase 2
Gene therapy trial for myotonic dystrophy type 1
This trial tests a one-time gene therapy (SAR446268) for people with non-congenital myotonic dystrophy type 1. It aims to see if the treatment is safe and can improve muscle symptoms like stiffness and weakness.
Gainesville, FloridaAges 10–55 - NCT06839235RecruitingPhase 1/Phase 2
Testing ABO-101 for primary hyperoxaluria type 1
This trial tests a new treatment called ABO-101 for people with primary hyperoxaluria type 1, a rare disease that causes high oxalate levels in urine. The study aims to see if ABO-101 can lower oxalate and protect kidney function.
Rochester, MinnesotaAges 6–64 - NCT06538402Recruiting
Comparing two J-pouch sizes in pouch surgery
This trial compares two different J-pouch sizes (10 cm vs. 15 cm) during surgery for ulcerative colitis or FAP. The goal is to see if one size leads to better outcomes.
AarhusAges 18–60 - NCT06843252Recruiting
Home-based brain stimulation for Huntington's disease symptoms
This study tests whether a gentle brain stimulation device (tDCS) used at home can help improve thinking and behavior in people with Huntington's disease. A caregiver is needed to be present during treatment and help with questionnaires.
San Antonio, TexasAges 18–85 - NCT06845501Recruiting
Purine supplements for AICA-ribosiduria
This trial tests whether adding purines (natural substances found in foods) to your diet can help treat AICA-ribosiduria, a rare genetic condition. It may be a safe and simple therapy option for you.
Saint-EtienneAges 3 years+ - NCT06837181Recruiting
Understanding diabetes complications in cystic fibrosis
This study looks at how long-term diabetes affects people with cystic fibrosis. It helps researchers understand complications and improve care.
Birmingham, AlabamaAges 12 years+ - NCT06844877Recruiting
Italian NCL Registry for Batten disease
This trial is creating a registry (a secure database) for people with a confirmed genetic diagnosis of NCL (Batten disease). The goal is to collect information over time to help researchers understand the disease better and plan future treatments.
PisaAges Any age - NCT06845332Recruiting
Best treatment choices for newborns with suspected early infection
This trial is testing ways to make the best treatment decisions for newborns who may have an early infection (sepsis). It focuses on babies born at 34 weeks or later and within their first three days of life.
AlkmaarAges Up to 3 days - NCT06843811Enrolling by invitationPhase 2
Sirolimus for Leigh Syndrome
This trial tests if sirolimus can help people with Leigh syndrome. It aims to see if the drug can improve neurological symptoms and is looking for participants aged 6 months to 55 years.
Philadelphia, PennsylvaniaAges 6 months–55 years - NCT06843330Recruiting
Lactate meter accuracy for children with GSD type Ia
This trial tests whether a simple finger-stick lactate meter gives accurate results for children and adults with a specific type of glycogen storage disease (GSD Ia). It aims to find a faster, easier way to monitor health during emergency visits or hospital stays.
Hartford, ConnecticutAges birth–60 years - NCT06845371Recruiting
MELODY registry follow-up study
This study is for people who have already joined the MELODY registry. It will simply continue to collect information about their condition over time to help researchers better understand how things change.
TübingenAges Any age - NCT06839469Recruiting
Walking study for rare muscle and nerve conditions
This study looks at how children and teens with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA) walk, by having them do walking tests while wearing sensors. The goal is to find better ways to track how these diseases progress and how treatments work over time, without needing blood tests or scans.
Palo Alto, CaliforniaAges 5 years+ - NCT06841224Enrolling by invitation
Pressure inside the belly during PD for polycystic kidney disease
This study looks at factors that affect the pressure inside the belly (intraperitoneal pressure) in people with polycystic kidney disease who are on peritoneal dialysis. The goal is to better understand how PD works for these patients and help guide their care.
Beijing, Beijing MunicipalityAges 18–80
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.