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
- NCT06265363Recruiting
Eye screening study for heavier or older premature babies
This study looks at how often premature babies weighing more than 1500 grams or born at 33 weeks or later get a serious eye condition called ROP (retinopathy of prematurity). It aims to find out what puts these babies at risk and what happens to them, helping doctors improve screening guidelines.
AnkaraAges 4 weeks+ - NCT06672913Recruiting
Skin-to-skin care study for premature babies
This study looks at how holding your baby skin-to-skin affects their health and development, for babies born at 32 weeks or earlier.
AnkaraAges 1 day+ - NCT06399107RecruitingPhase 1/Phase 2
Gene therapy trial for sickle cell disease using BAH243
This trial tests a gene therapy that uses a modified virus to deliver a healthy gene to your blood stem cells. It aims to help people with sickle cell disease produce normal red blood cells and reduce painful crises.
Beijing, Beijing MunicipalityAges 2–90 - NCT06674707Recruiting
Agility training with foot exercises for kneecap pain
This trial tests whether adding foot exercises to agility training can better relieve long-lasting knee pain (patellofemoral pain syndrome) in adults ages 20 to 40. Eligible participants will have had pain behind the kneecap for over 6 months.
Lahore, Punjab ProvinceAges 20–40 - NCT06675266Recruiting
AI for detecting fetal brain issues on ultrasound
This trial uses artificial intelligence to help find brain abnormalities in babies during a routine second-trimester ultrasound. It may improve how doctors spot problems early in pregnancy.
RomeAges 18–60 - NCT07670624Recruiting
Biomarker test for bacterial infection in newborns
This trial tests a new biomarker (T6A) to detect bacterial infections in newborn babies. It aims to help doctors diagnose infections faster and more accurately.
SalzburgAges Any age - NCT07669935Recruiting
Study to help prevent stillbirth with new risk screening
This study is testing a new way to find out early in pregnancy if you might be at risk for stillbirth. If you join, researchers will follow you through delivery to see if the screening tool helps improve outcomes.
Baton Rouge, LouisianaAges 18–99 - NCT07667205Enrolling by invitationPhase 1
Liposomal vs. ferrous iron for preventing anemia in preterm babies
This trial compares two types of iron supplements—liposomal iron and ferrous iron—to see which works better at preventing iron deficiency anemia in premature infants. It aims to find a safer or more effective option for these fragile newborns.
CairoAges 2 weeks–3 weeks - NCT07667387RecruitingPhase 1/Phase 2
Base editing study for severe urea cycle disorders
This trial tests a new medicine called LNP.UCD.ABE that aims to fix a specific genetic change causing a severe urea cycle disorder. It uses a technique called base editing to correct the gene mutation, which may help your body break down ammonia better.
Philadelphia, PennsylvaniaAges 1 day–5 years - NCT07664930Recruiting
Pompe Disease: Nerve and Diaphragm Testing
This study looks at the nerve that controls your diaphragm (the main muscle you use to breathe) in people with Pompe disease. It aims to better understand breathing problems in Pompe and may help guide future care.
PaviaAges 18 years+ - NCT07668908Enrolling by invitation
Virtual reality exercise program for Down syndrome
This trial tests whether an immersive virtual reality exercise program can help people with Down syndrome improve their fitness and health. Participants will do high-intensity workouts in a virtual reality environment.
Pontevedra, PontevedraAges 16–50 - NCT03001180Recruiting
Study blood and tissue markers in vascular anomalies
This study collects extra blood (and sometimes tissue during procedures) to look for markers that can help doctors better understand vascular anomalies. It may not be a treatment, but it can improve future care by finding patterns linked to the condition.
Boston, MassachusettsAges 1 day+ - NCT06073860Recruiting
Safety study of Luspatercept for MDS or thalassemia in Korea
This study is checking the safety of a drug called Luspatercept (brand name Reblozyl) for people in Korea who have myelodysplastic syndrome (a blood disorder) or beta-thalassemia (a type of inherited anemia). It is designed to monitor how safe the drug is when used as prescribed by your doctor.
SeoulAges 19 years+ - NCT05936333Recruiting
Study why repeated pregnancy problems happen in some cases
This study looks at how the immune system may contribute to ongoing placenta inflammation in certain pregnancy histories. It may help researchers better understand causes behind pregnancy loss and related placental complications, using past placenta/tissue samples.
ClamartAges 18 years+ - NCT05452720Recruiting
Testing a new pulmonary valve replacement in children
This study tests an early, first-use version of a new pulmonary valve device for children whose own valve is not working well. It may help improve blood flow from the heart to the lungs and aims to learn how safe and effective the valve is over time.
Peoria, IllinoisAges birth–22 years - NCT05099939Recruiting
Monitoring sugar changes in adults with cystic fibrosis
This study uses continuous glucose monitoring (a sensor that checks blood sugar trends) to understand how sugar handling changes over time in people with cystic fibrosis. It may help doctors spot early “pre-diabetes” or abnormal sugar patterns sooner.
Montreal, QuebecAges 18 years+ - NCT05853783Recruiting
Testing a mouth test on biopsy samples from abnormal lesions
This trial looks at archived (saved) mouth biopsy samples to see how well the STRATICYTE™ test can identify potentially dangerous “pre-cancer-like” changes. It may help doctors screen or better understand which abnormal areas in the mouth later turn into oral cancer.
Birmingham, AlabamaAges 18 years+ - NCT05196789Recruiting
Genetic testing to diagnose inherited bone marrow failure
This study looks at patients with suspected inherited (families-linked) bone marrow failure to better understand the cause using genetic testing. It may help confirm a diagnosis and refine how different inherited conditions are classified.
Melbourne, VictoriaAges 3 months+ - NCT04622462Recruiting
Testing a lab marker to predict oral cancer risk
This study looks at biopsy samples from mouth lesions that seem concerning, to see if a specific lab marker pattern can help predict whether oral cancer may be present or developing. It may help doctors sort which suspicious lesions need closer attention sooner.
Edmonton, AlbertaAges 15–90 - NCT05321875RecruitingPhase 3
Candesartan to prevent heart failure in certain gene carriers
This trial tests whether candesartan (a blood-pressure medicine) can delay or prevent heart muscle weakening in people who carry a disease-causing dilated cardiomyopathy gene variant but still have fairly strong heart pumping. Participants are randomly assigned to candesartan or a placebo to see which one keeps the heart healthier over time.
Majadahonda, MadridAges 18–64 - NCT06618638Recruiting
Shared Decision Tool for ADPKD Treatment
This study helps people with ADPKD and moderate kidney damage decide together with their doctor whether to start a treatment called tolvaptan. It tests a shared decision-making tool to see if it helps patients understand their options better.
Anyang-si, Gyeonggi-doAges 18–80 - NCT07657598Recruiting
Fluid monitor for children having skull surgery
This study checks if a special monitor (called Pleth Variability Index) helps doctors manage fluids better during surgery for children with craniosynostosis. It may lead to safer recovery for your child.
Istanbul, BasaksehirAges Up to 6 years - NCT07656415RecruitingPhase 3
Study of mitapivat for sickle cell disease patients who need blood transfusions
This study tests whether a daily pill called mitapivat can reduce the number of blood transfusions you need. It is for people with sickle cell disease who have had at least one transfusion in the past year and are not on regular transfusion therapy.
Indianapolis, IndianaAges 12 years+ - NCT07655102Recruiting
Brugada Syndrome and Anesthesia: A Registry Study
This study is collecting information from people with Brugada syndrome who are having anesthesia or sedation for any procedure. The goal is to learn more about how these medications affect people with Brugada syndrome, so doctors can provide safer care in the future.
Barcelona, BarcelonaAges 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.