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
- NCT07418099Recruiting
Study on a blood test for prolonged clotting time
This study looks at a special blood test (clot waveform analysis) to see if it can help doctors better understand why some people have a prolonged clotting time. This might help them find the cause more quickly and accurately.
Leganés, MadridAges Any age - NCT07419893Recruiting
Study of TP53 gene test results
This study looks at results from people who have already had TP53 gene testing through IEO’s genetics clinic. It helps doctors learn more about how this gene relates to cancer risk.
MilanAges 18–90 - NCT07418827Recruiting
Growing up with severe hemophilia: A follow-up study
This study follows up with young adults who have severe hemophilia to learn about their health and life as they grow into adulthood. It aims to understand the challenges they face and what helps them thrive.
Saint-Denis, La RéunionAges 20–29 - NCT07417072Recruiting
Brain tumor drug testing using 3D models in children
This study creates 3D models from brain tumor tissue of children aged 3-18 to test how different drugs might work against their specific tumor. The goal is to find more personalized treatments.
Florence, FirenzeAges 3–18 - NCT07425132Recruiting
Non-invasive heart mapping for congenital heart disease
This trial tests a new, non-invasive way to create detailed 3D maps of the heart's electrical activity in people with congenital heart disease. It aims to help guide procedures like heart catheterization or device implantation, potentially making them safer and more personalized.
Madrid, MadridAges 18–80 - NCT07423013Recruiting
Teprotumumab treatment for active thyroid eye disease
This trial tests a new version of an antibody treatment (teprotumumab) for people with active thyroid eye disease. It aims to reduce bulging and inflammation of the eyes, and you must have had symptoms for less than 9 months to join.
BeijingAges 18–80 - NCT07424976Enrolling by invitation
Early brain injury detection after infant heart surgery
This study looks for early signs of brain injury in infants after heart surgery that uses a heart-lung machine. It aims to improve monitoring and care for babies with congenital heart disease.
LjubljanaAges 1 week–1 year - NCT07420400Recruiting
Detecting heart shunts without needles
This trial uses a specialized ultrasound test (TEE with bubble study) to find a small opening in the heart called a PFO. It may help people who need this test to check for causes of certain health problems.
La Jolla, CaliforniaAges 18 years+ - NCT07417267Enrolling by invitation
Clean Air Study for Lung Health in CF or PCD
This study tests whether using air cleaners in your home can improve lung health for people with cystic fibrosis (CF) or primary ciliary dyskinesia (PCD). It takes place in Cyprus and requires you to stay at home most days.
Nicosia, AglantziaAges 6 years+ - NCT06271512Recruiting
Follow-up study for beta-thalassemia patients treated with beti-cel
This study is for people with beta-thalassemia who have already received the gene therapy betibeglogene autotemcel (beti-cel). It collects information to learn how patients are doing after this treatment in real-world settings.
Oakland, CaliforniaAges Any age - NCT06820892Recruiting
Quality of information during prenatal talks
This trial looks at how well doctors share information with parents before birth, especially when a baby is expected to need special care after delivery. It may help improve how future families are supported.
BronAges 18 years+ - NCT03976960Recruiting
Database study for colon cancer surgery patients
This study collects clinical and lab information from people who have surgery for colon cancer (or certain precancer growths) and related spread to organs. It may help researchers better understand colon cancer and improve future care, but it is not a new medication trial.
Montpellier, HéraultAges 18 years+ - NCT05014178Recruiting
Kidney salt imaging scan with MRI
This study uses an MRI scan to look at how your kidneys handle salt (sodium). It may help researchers better understand kidney function in healthy people and in people with chronic kidney disease.
London, OntarioAges 18 years+ - NCT05802264RecruitingPhase 1
Inhaled amphotericin B for healthy volunteers and cystic fibrosis
This early-phase study tests how different doses of an inhaled medicine (amphotericin B) work and are tolerated. It includes healthy adults and people with cystic fibrosis (CF) to see if the dose schedule is safe and potentially beneficial.
Canberra, Australian Capital TerritoryAges 16 years+ - NCT06507072Recruiting
Adaptive rock climbing for kids with arm differences
This study tests whether adaptive rock climbing can help children with arm or hand differences improve their physical function and confidence. It aims to find fun and effective ways to support your child's development.
Los Angeles, CaliforniaAges 6–16 - NCT07416201Recruiting
Study of Immune System Aging in Down Syndrome
This study is looking at how the immune system changes over time in people with Down syndrome, and how it may be affected by removal of the thymus gland. The goal is to understand why people with Down syndrome may age faster or have different immune health.
Bethesda, MarylandAges 1–120 - NCT07408232RecruitingPhase 1/Phase 2
Gene therapy for retinitis pigmentosa from RHO gene changes
This trial tests an experimental gene therapy for people with a specific type of retinitis pigmentosa caused by a change in the RHO gene. The therapy is given in multiple doses to see if it is safe and helpful.
Portland, OregonAges 18 years+ - NCT07413224Enrolling by invitation
Effects of AEF0217 in People with Down Syndrome
This study looks at the effects of a medication called AEF0217 in people with Down syndrome. It is for participants who have already completed an earlier study of AEF0217 and their caregivers.
BarcelonaAges Any age - NCT07412028Recruiting
Gene study in women with severe insulin resistance and PCOS
This study is looking for women with a type of severe insulin resistance linked to genetics, especially those who have PCOS or a condition called lipodystrophy. The goal is to better understand the genes involved so doctors can offer more targeted treatments.
ParisAges 18–45 - NCT07412821Enrolling by invitationPhase 1
Study of ASA-001 for ADSS1 deficiency muscle disease
This trial tests a drug called ASA-001 (adenylosuccinic acid) for people with a rare genetic muscle disease caused by ADSS1 deficiency. The goal is to see if it is safe and helps muscle function.
Los Angeles, CaliforniaAges 18 years+ - NCT07414446Recruiting
Detecting lung blood flow issues with a new ultrasound device
This trial uses a non-invasive ultrasound device to detect abnormal blood flow connections in the lungs, which are common in people with hereditary hemorrhagic telangiectasia (HHT) or a type of stroke called cryptogenic stroke. The goal is to see if the device can find these issues safely and easily without needing an invasive procedure.
Nieuwegein, UtrechtAges 18 years+ - NCT07414511Recruiting
Hemophilia A research study for pregnant families
This study follows pregnant people who carry a severe hemophilia A gene and their babies after birth. It looks at how hemophilia A is passed down and how it affects families, with the goal of improving understanding and care.
Seattle, WashingtonAges Any age - NCT07415837Recruiting
Studying a molecule in muscle diseases and healthy people
This study looks at a molecule called miR-1 in the blood to see if it can help understand muscle diseases. Researchers will compare levels in people with certain muscle conditions and in healthy volunteers.
Clermont-FerrandAges 2 years+ - NCT07414069Recruiting
Laser therapy for carpal tunnel syndrome
This trial tests high-intensity laser therapy as a treatment for mild to moderate carpal tunnel syndrome. It aims to see if the laser can improve symptoms and hand function without surgery or injections.
Ankara, Ankara, ÇankayaAges 18–65
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.