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
- NCT07622368RecruitingPhase 1
Testing IBI3031 for Active Thyroid Eye Disease
This early-stage trial tests a new drug called IBI3031 to treat active thyroid eye disease (TED), a condition where the immune system attacks muscles and tissue around the eyes, causing swelling, bulging, and sometimes double vision. The study aims to see if this drug can reduce inflammation and improve symptoms.
Shenyang, LiaoningAges 18–75 - NCT07623525RecruitingPhase 1/Phase 2
DIAG723 study for hereditary hemorrhagic telangiectasia
This study tests a new drug called DIAG723 in adults with hereditary hemorrhagic telangiectasia (HHT), a genetic condition that causes abnormal blood vessels and bleeding. Depending on which part of the study you qualify for, the drug may help reduce nosebleeds, improve anemia, or help with lung blood vessel problems caused by HHT.
Camperdown, New South WalesAges 18 years+ - NCT07622121RecruitingPhase 3
Treatment for long-term thyroid eye disease
This trial tests a new medication for people with long-term thyroid eye disease that has lasted over a year. The aim is to see if it can reduce symptoms like bulging and discomfort.
Coral Gables, FloridaAges 18–75 - NCT07622108RecruitingPhase 3
Study of an investigational drug for active thyroid eye disease
This trial tests a new medicine called MHB018A for people with active thyroid eye disease (TED), a condition that causes the eyes to bulge and become inflamed. The study aims to see if the drug can reduce symptoms and improve eye appearance compared to a placebo.
Coral Gables, FloridaAges 18–75 - NCT06698081Recruiting
Multimedia help for parents of child's testicle surgery
This trial tests if showing a video during the consent process lowers anxiety for parents whose child is having orchiopexy (surgery to move a testicle into the scrotum). It may help you feel more comfortable and informed before signing consent.
Istanbul, IstanbulAges 18 years+ - NCT07628972RecruitingPhase 1
Quercetin for telomere biology disorders
This study tests whether a natural supplement called quercetin can help people with dyskeratosis congenita or other telomere biology disorders. These are rare conditions where cells have unusually short telomeres (protective caps on chromosomes), which can affect bone marrow and increase cancer risk.
Cincinnati, OhioAges 2 years+ - NCT07625020Recruiting
Nerve Hydrodissection for Diabetic Nerve Entrapment Pain
This trial tests a minimally invasive ultrasound-guided procedure that uses fluid injection to free trapped nerves in the lower legs of people with diabetes. The goal is to relieve pain, numbness, and weakness when standard medications haven't worked well enough.
Chongqing, Chongqing MunicipalityAges 18–85 - NCT07625579Recruiting
Collaboration for Down Syndrome Progress Research Study
This research study aims to better understand Down syndrome by collecting health information, family history, and sometimes brain imaging or sleep data from children and adults with Down syndrome and their families. The goal is to advance knowledge that could improve health and development for people with Down syndrome.
Orange, CaliforniaAges Any age - NCT07627217Recruiting
Understanding MNGIE disease progression and natural history
This study collects information from patients with MNGIE (a rare genetic condition affecting how cells break down certain molecules) to better understand how the disease develops and progresses over time. By learning more about your experience, researchers hope to develop better treatments.
CambridgeAges Any age - NCT02398786Recruiting
Join a family registry for myotonic dystrophy (DM1 or DM2)
This study builds a registry of people and families affected by myotonic dystrophy types 1 and 2. It helps researchers learn about the condition over time and may support future studies that could lead to better care.
Oakland, CaliforniaAges Any age - NCT04114578Recruiting
Study of babies and children with diaphragm hernia
This is an observational study that follows babies and children with congenital diaphragm hernia (CDH) to learn more about their health and care over time. It may help doctors better understand which factors affect outcomes.
Montreal, QuebecAges Up to 17 years - NCT06700174Recruiting
AcuMark Balloon Study for Heart Hole Closure
This study uses a special balloon (AcuMark™ Sizing Balloon) to help doctors measure the exact size of a heart hole (atrial septal defect) before closing it. The goal is to make sure the closure device fits properly.
AnkaraAges Any age - NCT06702228Recruiting
Precision care for pulmonary fibrosis in Ireland
This trial is for people with scarring lung disease (pulmonary fibrosis) in Ireland. It aims to better understand and care for the condition, especially in families. The study will look at medical data and may help improve diagnosis and treatment.
DublinAges 18–85 - NCT06229626Recruiting
Intensive home training for hereditary spastic paraparesis SPG4
This trial tests an intensive, video-based exercise program for people with a specific type of hereditary spastic paraparesis (SPG4). It aims to see if adding extra training at home can improve walking and strength.
ParisAges 18 years+ - NCT06526923RecruitingPhase 1/Phase 2
Testing SP-101 gene therapy for cystic fibrosis
This trial tests a new gene therapy called SP-101 for cystic fibrosis. It aims to see if SP-101 is safe and effective for improving lung function.
Kansas City, KansasAges 18–65 - NCT06334003Recruiting
Heart health in moms and babies after fertility treatment
This study looks at how fertility treatments affect the heart and metabolism of mothers and their children. It compares women who became pregnant with or without fertility help to understand any differences.
CopenhagenAges 18–40 - NCT06615206Recruiting
First CRISPR RNA therapy for MECP2 duplication syndrome
This trial tests a new CRISPR therapy that edits RNA to treat a rare genetic condition called MECP2 duplication syndrome (MDS). It is for boys aged 2 to 18 who have stable seizures and no other major health problems, with the goal of improving symptoms and safety.
Beijing, Beijing MunicipalityAges 2–18 - NCT07619846Recruiting
Chin Bone Rings for Dental Implants in Back Teeth
This surgery uses a special bone ring taken from your chin to build up bone in your back upper jaw, so dental implants can be placed in one procedure instead of two. This may reduce surgery time and help your implants succeed better.
Damascus, GovernorateAges 18–70 - NCT07615686Recruiting
Spinal Cord Stimulation to Help Children with Spina Bifida Walk
This trial tests a treatment called transcutaneous spinal cord stimulation (tSCS)—gentle electrical pulses applied to the skin over the spine—to help children with spina bifida walk better and manage bladder control. The study includes children ages 4–17 who can walk short distances with help or devices.
Pittsburgh, PennsylvaniaAges 4–17 - NCT07614126Recruiting
L-dopa Treatment for Children With CTNNB1 Gene Disorder
This study tests whether L-dopa medication can help children with a rare genetic disorder (caused by changes in the CTNNB1 gene) that causes involuntary muscle movements called dystonia. Researchers want to see if this medicine can reduce these movements and improve daily function.
Montpellier, HéraultAges 1–15 - NCT07619651Recruiting
Pain relief methods after hypospadias repair in young boys
This trial compares two different numbing techniques to help manage pain after hypospadias surgery (a procedure to correct the urinary opening in boys). The goal is to find which method works better and is safer for young children.
KayseriAges 6 months–7 years - NCT07616154RecruitingPhase 2
Gene-Matched Family Stem Cell Transplant for Severe Sickle Cell
This trial tests whether a stem cell transplant from a partially gene-matched family member can cure severe sickle cell disease in children and young adults. The transplant uses a new approach that may work even when a perfectly matched sibling isn't available, and it might help patients whose sickle cell is causing serious complications like strokes, organ damage, or frequent pain crises.
Memphis, TennesseeAges Up to 22 years - NCT07614152RecruitingPhase 3
Growth hormone treatment for girls with Turner syndrome
This study tests whether a new long-acting growth hormone injection helps girls with Turner syndrome grow taller. Turner syndrome is a genetic condition that affects growth, and this trial will see if this treatment is safe and effective.
AnyangAges 2–12 - NCT07615400Recruiting
Long-term study of people with fucosidosis
This study follows people with fucosidosis over time to learn more about how the condition progresses. It is an observational study, so participants do not receive any new treatment—just regular health monitoring to help researchers better understand the disease.
Orange, CaliforniaAges Any age
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.