Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,756 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2277
- Phase 1238
- Phase 3210
- Phase 1/Phase 2208
- Phase 497
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis125
- Congenital Heart Disease84
- Cystic Fibrosis76
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy37
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)28
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
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
- Massachusetts General Hospital22
Where studies are running
- California325
- Maryland161
- Alabama133
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania62
- Florida59
Recruiting studies3,756 total
- NCT06213402Recruiting
European registry for rare anemia disorders
This study is creating a European registry (database) to collect information about people with rare anemia disorders. By joining, you help researchers better understand these conditions and improve care for yourself and others.
Barcelona, CataloniaAges birth–100 years - NCT04939571Recruiting
Registry for babies with retinopathy of prematurity
This study is a European registry that collects medical information (stored electronically) about babies who have retinopathy of prematurity (ROP) severe enough to need treatment. It may help doctors understand outcomes and improve care by tracking real-world results.
SalzburgAges Any age - NCT05446155Recruiting
Studying test results to predict and diagnose melanoma
This study looks at diagnostic and prognostic factors in people who have suspicious pigmented skin lesions or melanoma that doctors are evaluating with surgery or tissue sampling. It may help improve how clinicians decide what the lesion is and what to expect over time.
Helsingborg, Skåne CountyAges 18 years+ - NCT05809323Recruiting
Trial testing moderate exercise in teens with Marfan syndrome
This trial studies whether doing moderate exercise is safe and helpful for people with Marfan syndrome. It aims to see how exercise affects heart and health measures, like how the aorta and body respond over time.
Houston, TexasAges 10–25 - NCT04623593Recruiting
Study of cost and value of neck disc surgery
This study looks at how cost-effective (good value for the money) anterior neck disc surgery is for people with nerve or spinal cord symptoms. If you need this type of operation, it may help doctors better choose treatments and plan healthcare resources.
Maastricht, LimburgAges 18 years+ - NCT06225882Recruiting
Follow-up study for patients with primary hyperoxaluria type 1 on Lumasiran
This study follows patients with primary hyperoxaluria type 1 who are being treated with Lumasiran. It aims to understand how well the treatment works over time.
BesançonAges birth–99 years - NCT05450991Recruiting
Study outcomes in children with Hirschsprung’s disease
This study looks at long-term health and development outcomes in children who were diagnosed and treated for Hirschsprung’s disease or anorectal malformations. It uses both numbers and interviews to understand what happens over time after treatment, helping families and clinicians plan better care.
Liverpool, MerseysideAges Any age - NCT07867821Recruiting
Finding new markers in hemophilia joint damage
This study looks at tissue from joints affected by hemophilia to find new markers that could help understand and treat joint damage. It is for people with severe hemophilia who need a joint procedure like a fluid removal, synovectomy, or joint replacement.
MilanAges Any age - NCT07864129Recruiting
Pulmonary artery growth after tetralogy of Fallot surgery
This study looks at how the pulmonary arteries (the blood vessels that carry blood from the heart to the lungs) develop in children who had surgery for tetralogy of Fallot, a heart condition present at birth. It aims to learn more about normal growth patterns, which could help doctors better care for other children with similar heart problems.
StrasbourgAges birth–18 years - NCT06143254Recruiting
Infant sign training for speech development
This trial tests whether teaching infants with cleft palate simple signs can help them communicate before they can speak. It may support their speech and language development.
Ghent, East FlandersAges 1–2 - NCT03621137Recruiting
Registry for people with moderate-to-severe eczema
This registry collects information about people with atopic eczema who begin light therapy (phototherapy) or medicine that changes the immune system. It may help doctors better understand how these treatments work in everyday care in the Netherlands.
Amsterdam, North HollandAges Any age - NCT06178120Recruiting
Study of disease progression in women with X-linked adrenoleukodystrophy
This study follows women with a genetic condition called X-linked adrenoleukodystrophy (ALD) over time to see how the disease progresses. It includes annual check-ups and MRI scans of the brain and spinal cord to monitor changes.
ParisAges 18 years+ - NCT06236022RecruitingPhase 4
Sirolimus for dilated cardiomyopathy with KSHV infection
This trial tests whether the drug sirolimus (rapamycin) can help people with dilated cardiomyopathy who also have a specific virus (KSHV) in their blood. It aims to see if sirolimus can improve heart function.
Wuhan, HubeiAges 18–70 - NCT04176523Recruiting
Study of long-term carglumic acid use in organic acidemia
This study looks at how people with organic acidemia (like MMA or PA) do over the long term while taking carglumic acid. The research may help improve long-term management and support for patients and caregivers.
BordeauxAges 6 months–99 years - NCT03409003Recruiting
Carbaglu monitoring study for suspected NAGS deficiency
This study follows people who have (or might have) NAGS deficiency and who are taking Carbaglu to treat it. The goal is to better track safety and health outcomes over time.
Washington D.C., District of ColumbiaAges Any age - NCT04602325Recruiting
Blood and brain injury biomarker study for inherited metabolic disorders
This trial studies blood and other measurable signs (biomarkers) that may reflect brain injury after certain inherited metabolic conditions. Results may help doctors better detect and understand brain effects from these illnesses, especially episodes that affect the brain.
Washington D.C., District of ColumbiaAges 7–18 - NCT07854899Recruiting
Study of advanced retinal degeneration natural history
This study follows people with advanced retinal degeneration (RCD) to learn how the disease progresses over time. It does not test a new treatment, but the information may help design future treatments.
GhentAges 18 years+ - NCT05636878Recruiting
Mobile mental health team for babies and toddlers
This study tests a mobile mental health support team for young children from birth to age 3. It may help families by bringing perinatal (around pregnancy and early parenting) psychiatric support closer to home.
LaxouAges 1 day–3 years - NCT06130592Recruiting
Ultrasound muscle imaging in pregnancy
This study tests a new ultrasound technique to look at fetal muscles in pregnant women, which might help detect joint or movement problems early. It aims to see if the technique is feasible and could improve prenatal diagnosis.
La Tronche, IsèreAges 18–55 - NCT06250595Recruiting
European rare blood disorder registry
This study is building a registry of people with rare blood diseases. By joining, you help doctors learn more about these conditions and improve future care.
Barcelona, CataloniaAges Up to 100 years - NCT01243931Recruiting
Eye scan guided laser surgery for surface cornea scars
This study tests a laser procedure guided by an eye scan to improve vision caused by surface (front) cornea cloudiness or irregularities. It may help some people whose vision problem is mainly in the outer cornea and can be safely treated without reaching deep tissue.
Portland, OregonAges 18 years+ - NCT04390646RecruitingPhase 2/Phase 3
Hormone treatment to study thinking in Down syndrome
This trial studies whether a GnRH hormone treatment can improve thinking and memory in people with Down syndrome. It also checks safety and whether the treatment affects brain-related changes seen on MRI.
Lausanne, Canton of VaudAges 16–50 - NCT06030349Recruiting
Breathing support for kids with Down syndrome and sleep apnea
This trial looks at how well non-invasive breathing machines help children with Down syndrome who have obstructive sleep apnea. It tracks their health and sleep over time to see if the treatment works and improves daily life.
DublinAges 6 months–16 years - NCT06244940Recruiting
Genetic testing study for heart defects in pregnancy
This study tests a new way to find genetic causes of congenital heart disease (a heart problem found before birth) using samples from amniocentesis or chorionic villus sampling. It may help parents get a clearer diagnosis and plan for their baby's care.
San Diego, CaliforniaAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,756 recruiting medical genetics studies from the U.S. registry right now, out of 5,439 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.