Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- Cystic Fibrosis (CF)37
- Cardiac Amyloidosis35
- Huntington Disease32
- Lynch Syndrome32
- Heart Failure31
- Retinitis Pigmentosa31
- Bronchopulmonary Dysplasia30
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)27
Leading sponsors
- Assistance Publique - Hôpitaux de Paris62
- Boston Children's Hospital42
- National Institute of Allergy and Infectious Diseases (NIAID)38
- Mayo Clinic37
- Children's Hospital Medical Center, Cincinnati33
- Hospices Civils de Lyon32
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Riphah International University26
- Massachusetts General Hospital23
- National Cancer Institute (NCI)23
Where studies are running
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT02137668RecruitingPhase 1
Testing vancomycin for certain pediatric bile duct conditions
This early-phase study tests whether the antibiotic vancomycin can help children with primary sclerosing cholangitis or biliary atresia, and related gut/bile duct problems. It may work by changing gut bacteria, but you would need to avoid certain medicines beforehand.
Sacramento, CaliforniaAges 2 weeks–40 years - NCT02702869Enrolling by invitation
Study of improving care for common facial clefts
This trial is part of a quality-improvement and research program for people with typical facial clefts. It aims to help improve how care is organized and measured across treatment centers, which may benefit future patients and help your team deliver coordinated care.
Gainesville, FloridaAges 1 day–22 years - NCT01902407Enrolling by invitation
Sleep scan study using computer models in people with Down syndrome
This study uses computer simulations to understand breathing airways and lung changes during sleep in people with Down syndrome. It may help researchers better interpret sleep MRI/CT scans and improve how sleep apnea (OSA) is studied in the future.
Cincinnati, OhioAges 1–90 - NCT01803906Enrolling by invitation
Tissue sample study for suspected mitochondrial disorders
This study collects tissue samples to help researchers learn more about mitochondrial disorders—conditions related to how the body makes energy. It may help by improving genetic understanding for families who suspect an inherited cause.
New York, New YorkAges Any age - NCT00833599Enrolling by invitation
Scan lymph drainage and collect samples for related conditions
This study uses a special light scan after a dye is given to look at how your lymph system drains. It may also include genetic testing for people with a family history of lymph-related disorders to better understand causes.
Houston, TexasAges 3 months+ - NCT00807482Recruiting
Study of lung disease causes in primary ciliary dyskinesia
This study looks at how primary ciliary dyskinesia (PCD—a lifelong problem with tiny lung “sweepers”) affects the lungs. You may be able to join if you strongly seem to have PCD based on symptoms, or if you’re a healthy person with a close family member who has confirmed PCD.
Chapel Hill, North CarolinaAges Any age - NCT01186913Enrolling by invitation
Natural history study for severe combined immune deficiency (SCID)
This study follows children and adults with SCID and related immune disorders to understand how the illness behaves over time. It also helps researchers learn which testing results and genetic types of SCID match different treatment plans.
Birmingham, AlabamaAges Any age - NCT00341874Enrolling by invitation
Genetic study of deafness in Pakistani families
This study looks at genetic causes of deafness by comparing affected and unaffected family members. It may help researchers understand why some people are born or develop deafness and guide future diagnosis for families in Pakistan.
LahoreAges 2 years+ - NCT00313677Recruiting
Trial readiness for dystroglycan-related muscle conditions
This trial is for people who have signs that they may have a dystroglycanopathy—a group of muscle conditions. It helps study how ready participants are for care and possibly future treatments by using lab and genetic/pathology information to confirm the condition.
Iowa City, IowaAges Any age - NCT01852370Enrolling by invitationPhase 1/Phase 2
Lung and bone marrow transplant plan for immune system disorders
This early-phase study tests a step-by-step transplant approach: first replacing the lungs, then doing a bone marrow (stem cell) transplant to treat certain immune deficiency diseases. It may help people whose immune problem has led to severe, end-stage lung disease.
Pittsburgh, PennsylvaniaAges 5–45 - NCT00102544Enrolling by invitation
Tracking Devices to Find Abnormalities During Medical Procedures
This study tests technology that uses imaging scans to help doctors locate and reach abnormalities during surgical or interventional procedures. The goal is to make these image-guided procedures more accurate and safer for patients.
Bethesda, MarylandAges 18–120 - NCT00795080Enrolling by invitation
Neck MRI study of fluid flow in spine and skull problems
This study uses special MRI scans to measure how fluid moves around the brain and spinal cord. It may help researchers better understand craniovertebral junction (CVJ) and Chiari I malformations by comparing fluid-flow patterns during neck movement.
Ages 12 years+ - NCT00895271Enrolling by invitation
Making lab cell lines from skin biopsies in immune disorders
This study creates special lab cell lines from skin (or nasal) samples from people with immune system disorders and certain family members. It’s meant to help researchers build tools to better study these conditions using patient cells.
Bethesda, MarylandAges 2–85 - NCT00047996Enrolling by invitation
Blood Donation Study for Blood Vessel Research
This study collects blood and urine samples from adults to help researchers understand diseases affecting blood vessels. Your donation helps scientists develop better treatments.
Bethesda, MarylandAges 18–100 - NCT00884455Enrolling by invitation
Join the Alpha-1 DNA and tissue sample bank
This trial is a DNA and tissue sample registry for people interested in Alpha-1. It helps researchers study the condition by collecting samples for future research.
Gainesville, FloridaAges birth–100 years - NCT07399028Recruiting
Skin changes from biostimulator treatment in women
This study looks at how a biostimulator (a type of injectable treatment that helps your skin produce more collagen) changes your skin. Researchers will use special cameras and scans to see these changes, which may help reduce wrinkles on your cheeks.
New York, New YorkAges 45–65 - NCT07399067RecruitingPhase 2
Testing IBI3002 for moderate to severe eczema
This study tests a new medication called IBI3002 for people with moderate to severe eczema (atopic dermatitis) that hasn't been well controlled by standard creams. The goal is to see if IBI3002 can reduce skin inflammation and itching.
Beijing, Beijing MunicipalityAges 18–75 - NCT07399704RecruitingPhase 2
Testing a new drug for two rare brain diseases
This trial is for people with Niemann-Pick type C or GM2 gangliosidosis who are already on or have been in a related study. It tests a new drug called Nizubaglustat to see if it is safe and works better than current treatments.
Água Verde, CuritibaAges 12 years+ - NCT07400198Recruiting
Walking and Bone Health Study for SMA
This study looks at walking and bone health in people with spinal muscular atrophy (SMA). It helps researchers understand how SMA affects your gait (the way you walk) and your bones, which could lead to better treatments.
New York, New YorkAges 8–50 - NCT07400224RecruitingPhase 1/Phase 2
New PET imaging test for cancer, heart, or immune disease
This study tests a new type of PET scan using a special tracer called Al18F-NOTA-FAPI-04 to see if it can better detect cancer, heart disease, or immune system conditions. The goal is to find out how well this imaging method works for diagnosis or monitoring of these diseases.
BeijingAges 18–88 - NCT07400757Recruiting
Statin and vitamin D for active thyroid eye disease
This trial tests whether a statin (a cholesterol-lowering medicine) combined with vitamin D can improve active thyroid eye disease. It may help if you have both eye inflammation and high cholesterol.
Taipei, TaiwanAges 20 years+ - NCT07403266RecruitingPhase 3
Full-spectrum cannabis oil for seizures in tuberous sclerosis
This trial tests a full-spectrum cannabis extract to see if it reduces seizures in people with tuberous sclerosis complex (TSC) whose seizures have not been controlled by other treatments. If it works, it could offer a new option for managing hard-to-treat epilepsy.
MadridAges 2–65 - NCT07404644Recruiting
Study of vonicog alfa in children with von Willebrand disease
This study looks at how well vonicog alfa (a lab-made version of a missing blood protein) works to control bleeding in children under 18 with von Willebrand disease. It follows children who are already prescribed this treatment in Japan to see how safe and effective it is in real life.
Tokyo, TokyoAges Up to 17 years - NCT07405333Recruiting
Coughing exercises vs breathing device after heart surgery in children
This study compares simple coughing exercises with a breathing device (incentive spirometry) to help children recover lung function faster after heart surgery. It may help reduce complications and shorten hospital stays.
Baghdad, Baghdad GovernorateAges 6–18
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,795 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.