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
- NCT05456321Recruiting
Brain stimulation and thinking training for prenatal alcohol effects
This study tests whether brain stimulation plus structured thinking practice can improve thinking and brain function in people affected by heavy alcohol exposure before birth. It may help parents and researchers learn how to support learning and daily functioning in fetal alcohol spectrum disorders.
Minneapolis, MinnesotaAges 8–17 - NCT05420064Recruiting
Help with family cancer gene testing and unclear results
This trial helps people and their doctors understand and act on genetic test results, including when results are uncertain. It tests whether a structured approach improves who gets tested in families and helps patients and primary care providers stay up-to-date.
Basking Ridge, New JerseyAges 25 years+ - 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 - NCT05443906Recruiting
Home exercise program for people with neurodegenerative conditions
This trial studies whether a home exercise program is safe and helpful for people with certain neurodegenerative conditions, including X-linked adrenoleukodystrophy and DARS2-related disease, as well as some other similar diagnoses. You would be asked to do exercises at home and be assessed on your walking and strength/safety.
Baltimore, MarylandAges 5–75 - 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 - NCT05446571RecruitingPhase 3
Letermovir in pregnancy versus valaciclovir for fetal CMV
This trial tests whether letermovir can treat a baby’s early (first-trimester) congenital CMV infection in pregnancy, compared with the standard drug valaciclovir. The goal is to reduce serious effects from CMV while monitoring safety and pregnancy outcomes.
ParisAges 18 years+ - NCT05437536Recruiting
Severe von Willebrand disease patient registry in the U.S.
This registry collects health and bleeding information from people who have severe von Willebrand disease (a lifelong bleeding condition). Your data helps researchers understand the condition better and supports future studies that may lead to better treatments.
Wellington, FloridaAges Any age - NCT04146376Recruiting
Study of medicines for Von Willebrand disease during pregnancy
This study looks at how well a Von Willebrand disease treatment plan works during pregnancy, and whether some patients need extra “adjusting” of medicine. It may help prevent bleeding problems by matching treatment to each person’s lab results later in pregnancy.
Aurora, ColoradoAges 18 years+ - NCT04815005Recruiting
Registry study for people with HoFH
This study is a registry (a list that collects health information) for people with homozygous familial hypercholesterolemia, a genetic cholesterol condition. It helps researchers understand this condition better and connect patients with future research.
Philadelphia, PennsylvaniaAges Any age - NCT04395495Recruiting
RASopathy disorder study biobank for kids and families
This study collects and stores health samples and information from people with RASopathy conditions (like Noonan or Costello syndromes) and from family members who may not have the condition. It helps researchers understand these disorders and supports future studies that could lead to better care.
Cincinnati, OhioAges Any age - NCT05396105Enrolling by invitationPhase 2/Phase 3
Oral PHA-022121 extension for hereditary angioedema attacks
This study is an extension trial of an oral medicine (PHA-022121) for treating acute attacks in people with hereditary angioedema (HAE), especially HAE type III (HAE-nC1INH). It checks whether continuing this oral treatment can safely help manage attacks after you’ve taken it before.
Birmingham, AlabamaAges 12 years+ - NCT05364294Recruiting
Molecular testing for rare inflammatory (autoinflammatory) diseases
This study uses lab testing to better identify the cause of certain rare inflammatory conditions that happen without infection. Finding the cause may help doctors choose more targeted care for you or your child.
ParisAges 1 week–120 years - NCT05394506Recruiting
Study of factors that affect muscle laminopathy with LMNA changes
This study looks at what influences the course of a muscle disease caused by an LMNA genetic change (a type of laminopathy). It may help researchers better understand the disease and how it affects muscle and sometimes breathing or heart function.
Bron, Auvergne-Rhône-AlpesAges 2 years+ - NCT05373264RecruitingPhase 3
Hydrochlorothiazide to help polycystic kidney disease and quality of life
This Phase 3 study tests whether hydrochlorothiazide can help people with autosomal dominant polycystic kidney disease (ADPKD) and improve quality of life. It also looks at whether it affects kidney health while you stay on your current ADPKD-related treatment.
GrazAges 18–80 - NCT05374824Recruiting
Palliative surgery versus more seizure medicines for Lennox-Gastaut
This trial compares two treatment approaches for children with Lennox-Gastaut syndrome: palliative (comfort-focused) surgery versus adding more anti-seizure medicines. It aims to see which option works better for seizure control and day-to-day well-being.
Chicago, IllinoisAges Up to 26 years - NCT05368064Enrolling by invitation
Study of cleidocranial dysplasia care from symptoms and genetics
This study looks at cleidocranial dysplasia (CCD) using a person’s symptoms and/or genetic findings to better understand what needs care and support. It may help teams improve how CCD is recognized and managed over time.
Baltimore, MarylandAges Any age - NCT05377372Recruiting
Study of early exposures in babies with sickle cell disease
This study asks mothers of babies with sickle cell disease about early-life exposures and related factors. It may help researchers understand what might affect health in the first months of life.
Birmingham, AlabamaAges 18–50 - NCT05368038Enrolling by invitation
Newborn screening program for babies up to 4 weeks old
This trial tests a flexible newborn screening process that looks for certain conditions early in life. It may help by catching problems sooner, when treatment can be started earlier.
Brooklyn, New YorkAges Up to 4 weeks - NCT05384821RecruitingPhase 1/Phase 2
Oral low-dose chemotherapy for relapsed Wilms tumor
This Phase 1/2 trial studies metronomic (very low, steady) chemotherapy taken by mouth or through a feeding tube for children with Wilms tumor that has come back or not responded to earlier treatment. It aims to shrink measurable tumors with better long-term tolerability than standard chemotherapy.
AmiensAges 1.5 years–17 years - NCT05404503Enrolling by invitation
Check how often bile-duct cancer happens in choledochal cysts
This study looks at how frequently cholangiocarcinoma (bile-duct cancer) occurs in people with choledochal cysts (a swelling of bile ducts). It mainly uses existing imaging records to understand risk in a hospital population.
HuelvaAges Any age - NCT05394363Recruiting
Victoria children birth-cohort study with parent/guardian consent
This study follows children born in a specific 2-year window and their parents or guardians over time. It helps researchers understand how children and families change as they grow, which can guide future health supports in Victoria.
Parkville, VictoriaAges 1 day+ - NCT05386134Recruiting
Adaptive eye imaging for inherited and acquired retinal conditions
This study tests a special high-detail camera that takes clearer pictures of the retina (the light-sensing layer at the back of the eye). It may help researchers better understand different retinal diseases—and your results could support future diagnosis and care.
Toronto, OntarioAges 5–70 - NCT05383911Recruiting
Sickle cell care plan choices for teens and young adults
This trial tests a way to help teens and young adults with sickle cell disease (SCD) and their caregivers actively take part in treatment decisions. It focuses on improving shared decision-making through interviews and a partner-centered approach.
Wilmington, DelawareAges 15 years+ - NCT05412394RecruitingPhase 4
Once-weekly steroid for very young children with DMD
This trial tests whether a steroid taken once each week is safe and useful for children with Duchenne muscular dystrophy (DMD). It aims to help slow disease effects in very young children whose diagnosis and lab tests confirm DMD.
Chicago, IllinoisAges 1 month–2.5 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.