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
- NCT06089902Recruiting
European registry for anomalous aortic origin of coronary arteries
This is a European registry for people with an anomalous origin of a coronary artery from the aorta (AAOCA). It will track how the condition is treated—whether with surgery or monitoring—to learn what works best.
Padova, PDAges Any age - NCT05092685RecruitingPhase 1/Phase 2
Gene therapy trial for children with OTC ammonia build-up
This early-phase study tests an AAV gene therapy meant to reduce ammonia levels in children with ornithine transcarbamylase (OTC) deficiency. It’s designed to slow or stop ammonia-related harm, while also carefully monitoring safety for years.
LondonAges birth–16 years - NCT05112211Recruiting
Imaging study of doxycycline in thyroid eye disease
This study looks at how doxycycline (an antibiotic) affects thyroid eye disease using special imaging pictures. It may help doctors better understand disease activity and how well treatments work.
Guangzhou, GuangdongAges 18–70 - NCT06129656Recruiting
Cardiac Amyloidosis Registry at Leipzig Hospital
This study is a registry that collects information from people with cardiac amyloidosis. It helps doctors learn more about the condition and how to better treat it.
Leipzig, SaxonyAges Any age - NCT05698901Recruiting
Testing heart blood tests and scans to monitor Fabry disease
This study checks whether certain heart-related blood tests and heart scans can help monitor people with Fabry disease. It may be useful for both people who have never received enzyme replacement therapy and those who have.
TaipeiAges 18 years+ - NCT06145841Recruiting
Gene test to guide infection treatment in AIDS
This study is for people with HIV/AIDS who develop severe pneumonia or septic shock. It uses a special genetic test (metagenomic next-generation sequencing) to find the exact germ causing the infection so doctors can choose the right antibiotic.
Guangzhou, GuangdongAges 18–65 - NCT03631420RecruitingPhase 1
Stem cell treatment to prevent lung disease in very premature babies
This Phase 1 trial tests whether giving stem cells into a breathing tube is safe and may help prevent bronchopulmonary dysplasia (BPD), a serious lung condition in very premature infants. It focuses on babies soon after birth who already need breathing support and are at risk.
TainanAges 3 days–2 months - NCT03185702Recruiting
Turner syndrome research registry for people with Turner syndrome
This registry study is collecting information from people who have Turner syndrome. It may help researchers better understand the condition and plan future studies that could lead to improved care.
Houston, TexasAges Any age - NCT02270476Recruiting
Study of how cystic fibrosis lung disease changes over time
This observational study follows children newly diagnosed with cystic fibrosis to understand how their lung disease develops. It may help doctors better predict disease course and choose the right timing for care.
Heidelberg, Baden-WurttembergAges Any age - NCT04760522Recruiting
Genetic testing plan for patients with unclear disease cause
This study helps decide treatment planning based on genetic testing for people whose disease cause is unclear but may be genetic. It’s meant to support a “genomic health” approach, where results guide next steps in care.
TübingenAges Any age - NCT04265040Recruiting
Heart muscle disease registry for non-ischemic conditions
This trial is a registry, meaning it collects health information to help doctors study heart muscle diseases and plan future cardiovascular studies. You may be able to join if you have a non-ischemic cardiomyopathy such as dilated cardiomyopathy, certain forms of thick heart muscle, non-compaction, or arrhythmogenic right-sided disease.
Heidelberg, Baden-WurttembergAges 18–80 - NCT06153407Recruiting
Genetic test for early valve disease in bicuspid aortic valve
This study looks at how genes may affect the risk of calcium buildup in the aortic valve in people with a bicuspid aortic valve. By joining, you help researchers find better ways to predict and manage this heart condition.
SeoulAges 19–80 - NCT03137355Recruiting
Registry for people with Leigh syndrome
This study is a registry that collects information from people diagnosed with Leigh syndrome. It may help researchers understand the condition better and improve future care.
Houston, TexasAges birth–100 years - NCT05558371Recruiting
International study for people with CDKL5 disorder
This study is for anyone diagnosed with CDKL5 disorder who can be seen at participating clinics or is already listed in an international CDKL5 registry. The goal is to help researchers better understand the condition and support future research.
Los Angeles, CaliforniaAges 1 month–100 years - NCT04661059Recruiting
Study of how a fetus develops late in pregnancy
This study looks at how a baby’s organs develop in late pregnancy, using situations where someone is already being evaluated for a possible fetal abnormality and chooses to end the pregnancy. The goal is to better understand late-stage fetal development and related causes of abnormalities.
LondonAges 18 years+ - NCT05424016Recruiting
Propranolol for brain blood-vessel tumors in VHL
This trial studies whether propranolol, a beta-blocker medicine, can help people with VHL who have non-urgent hemangioblastomas in the brain/spinal cord. It aims to see if the medication is safe and beneficial without needing immediate surgery.
Le Kremlin-BicêtreAges 18 years+ - NCT05426252RecruitingPhase 1/Phase 2
Lower-toxicity bone marrow conditioning for high-risk thalassemia
This trial tests a modified, lower-toxicity preparation (conditioning) before a bone marrow transplant in children and teens with high-risk thalassemia. It aims to reduce treatment side effects while still allowing transplant success for people who need a donor.
Toronto, OntarioAges 1–18 - NCT07864142Recruiting
Early screening for spinal cord defects in pregnancy
This study looks at whether early ultrasound measurements and blood tests in the first trimester can help detect open neural tube defects, which are problems with the baby's spine or brain. It may improve early detection and care for pregnant women.
StrasbourgAges 18 years+ - NCT07867834Recruiting
Telemedicine for better hemophilia care
This study tests whether using a smartphone app to track treatment and check in with doctors can improve how well hemophilia is managed. It may help make your treatment plan more personal and effective.
MilanAges 18 years+ - NCT06088030RecruitingPhase 2
Arsenic trioxide plus chemo for p53-mutated childhood cancer
This trial tests if adding arsenic trioxide to standard chemotherapy can help children with cancers that have a certain p53 gene change. The goal is to see if the drug can reactivate the broken p53 protein to fight the tumor.
Guangzhou, GuangdongAges Up to 18 years - NCT06199427RecruitingPhase 2
Preventing graft-versus-host disease after stem cell transplant for immune disorders
This trial tests a combination of two drugs, ruxolitinib and PTCy, to prevent graft-versus-host disease (a common complication) in children receiving a stem cell transplant for inborn errors of immunity. The goal is to make the transplant safer and more effective.
MoscowAges birth–21 years - NCT06194669Recruiting
VHL disease and kidney tumor risk study
This study looks at how early changes in kidney cells can lead to tumors in people with VHL disease. It may help understand why some people develop kidney cancer and how to prevent it.
MilanAges 18 years+ - NCT07858422RecruitingPhase 2
Study of a cream for epidermolysis bullosa wounds
This trial tests a new cream that may help heal wounds in people with epidermolysis bullosa (EB), a condition causing fragile skin that blisters easily. The cream is applied directly to the wounds, and researchers will compare two similar wounds on the same person to see if the cream works better than a cream without the medicine.
TainanAges 18 years+ - NCT06061562Recruiting
Sleep Apnea and Activity in Down Syndrome
This trial looks at whether physical activity can help improve sleep apnea in people with Down syndrome. It aims to find better ways to manage breathing problems during sleep.
La TroncheAges 6 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.