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 applicable2,771
- Phase 2284
- Phase 1235
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis128
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome55
- 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
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT06410976Recruiting
Study of hypochondroplasia in children
This study is for children with hypochondroplasia, a condition that causes short stature. It will look at how the condition changes over time and aims to better understand it, with the goal of finding new treatments.
Oakland, CaliforniaAges 2.5 years–16 years - NCT06411353Recruiting
Blood flow and sounds in new dialysis access
This study looks at blood flow and sounds in new arteriovenous fistulas (AVFs) during dialysis. If you need a new AVF in your forearm, this trial may help doctors understand how to make your fistula work better.
Bergamo, BergamoAges 18–90 - NCT06413368RecruitingPhase 2/Phase 3
Maralixibat for cystic fibrosis constipation
This trial tests a medicine called maralixibat to see if it helps children with cystic fibrosis who have chronic constipation that doesn't improve with standard treatments. The goal is to improve bowel movements and quality of life.
Los Angeles, CaliforniaAges 1–18 - NCT06413459Recruiting
New markers for lung disease in cystic fibrosis
This study looks for biological markers (substances in your body) that can show if a lung infection with Mycobacterium abscessus is getting worse. It may help researchers develop better ways to track and treat the infection in people with cystic fibrosis.
Milan, MIAges 18 years+ - NCT06414967Recruiting
Music therapy for irritability in Huntington's disease
This study tests if music therapy can help reduce irritability and impulsivity in people with Huntington's disease. You'll participate in music sessions to see if it improves your mood and behavior.
PoitiersAges 18 years+ - NCT06416761Recruiting
Genetics and kidney disease progression study
This study looks at how genetics affect the progression of kidney diseases. Joining may help researchers understand your condition better and find better treatments.
MilanAges 18 years+ - NCT06417060Recruiting
Comparing pain relief methods for hypospadias surgery
This trial tests two ways to manage pain during and after surgery to fix hypospadias (a condition where the urinary opening is not at the tip of the penis). One method uses a shot of numbing medicine near the tailbone (caudal block) and the other uses local numbing medicine at the surgical site. The study helps find which approach works better for young children.
SkopjeAges 6 months–4 years - NCT06418256Recruiting
Study of Spleen Function Using Surgical Samples
This study collects the spleen and blood from people having surgery to remove their spleen. By studying these samples, researchers hope to learn more about how the spleen works and what happens when it doesn't function properly.
ClichyAges 18 years+ - NCT06421519RecruitingPhase 1/Phase 2
Different levels of BiPAP for preterm babies
This study looks at different levels of BiPAP—a breathing machine that helps preterm babies breathe—to find the best setting. It's for babies born before 34 weeks who need breathing support, either before a tube, after coming off one, or after a week of help.
LondonAges 2 days–2 months - NCT06421831RecruitingPhase 1/Phase 2
Gene therapy trial for spinal muscular atrophy type 3
This trial is testing a one-time gene therapy drug for people with SMA type 3. The goal is to see if it can safely improve muscle function and strength.
Beijing, Beijing MunicipalityAges 2 years+ - NCT06423573Recruiting
Skin cancer risk in epidermolysis bullosa patients using Filsuvez
This study tracks anyone with dystrophic or junctional epidermolysis bullosa who is using Filsuvez gel to see how often skin cancers appear. It is designed to understand the long-term safety of the treatment.
ToulouseAges Any age - NCT06425666Recruiting
Cataract surgery with triple-DMEK for Fuchs dystrophy
This trial tests a combined surgery that treats both cataract and Fuchs endothelial corneal dystrophy at the same time. It compares the standard cataract surgery to one that also replaces the damaged cornea layer, aiming to improve vision with fewer steps.
Aarhus N, Central JutlandAges 18 years+ - NCT06427304Recruiting
Heart scan study for amyloid protein in older adults
This trial is testing older adults with heart failure to see if a heart condition called cardiac amyloidosis (a buildup of abnormal protein in the heart) is present. If you are 80 or older, have been in the hospital for heart failure in the past year, and have a thickened heart wall, you may be able to join.
Paris, IIe-de-FranceAges 80 years+ - NCT06429176RecruitingPhase 2
SPL84 for cystic fibrosis with 3849+10kb mutation
This trial tests a new drug called SPL84 for people with cystic fibrosis who have a specific gene mutation (3849+10kb C->T). It aims to see if the drug is safe and can improve lung function. The study has two paths: one for people not taking certain CF drugs, and one for those who are already on Trikafta or Alyftrek.
Los Angeles, CaliforniaAges 18 years+ - NCT06430385RecruitingPhase 1/Phase 2
Study of ION440 for MECP2 Duplication Syndrome
This trial tests an experimental medicine called ION440 for people with MECP2 Duplication Syndrome. The medicine is given as an injection into the spinal fluid, and the study aims to check its safety and how well it works.
San Diego, CaliforniaAges 2–65 - NCT06430359Recruiting
How urine copper changes over 24 hours in Wilson disease
This study looks at how copper levels in urine change throughout the day and night in people with Wilson disease. If you take part, you will collect all your urine for 24 hours so researchers can measure copper at different times.
Bron, RhoneAges 6–70 - NCT06431269Recruiting
Screening for developmental disorders in children with heart disease
This study is looking for children aged 1 to 5 years who have congenital heart disease and had heart surgery or a procedure in their first year. A special nurse will check for early signs of developmental delays, to see if this kind of screening is helpful for these children.
MontpellierAges 1–5 - NCT06433401Recruiting
Structured transition care for teens with heart disease
This study tests a structured transition care model to help teenagers with congenital heart disease move from pediatric to adult care. It aims to make the process smoother and improve your health outcomes.
Ankara, Ankara YenimahalleAges 16–20 - NCT06434207Recruiting
Heart defect study in newborns to understand blood clots
This study looks at tiny particles from cells in newborns with heart defects to understand blood clot risks. It aims to find ways to prevent clots after heart surgery.
Boston, MassachusettsAges 1 day–1 week - NCT06434389Recruiting
Rapid fibrinogen test during aortic dissection surgery
This trial tests a new device that quickly measures fibrinogen (a protein that helps blood clot) from a small blood sample during surgery for type A aortic dissection. It aims to help doctors make faster decisions about blood clotting treatments.
Hangzhou, ZhejiangAges 18 years+ - NCT06435000Recruiting
A study tracking Stargardt disease progression
This study follows people with Stargardt disease (a genetic eye condition that causes vision loss) over time. It aims to learn more about how the disease progresses and does not test any treatment.
San Diego, CaliforniaAges 12–65 - NCT06435468Recruiting
Biocollection for rare childhood-onset immune diseases
This study collects blood and tissue samples from patients with rare immune system diseases that started in childhood, and from their relatives and healthy volunteers. The goal is to build a biocollection for future research to better understand these diseases.
Bron, BronAges 1 year+ - NCT06435858RecruitingPhase 2
SGLT2 inhibitor for calcium and magnesium in ADPKD
This study tests whether a medicine called an SGLT2 inhibitor (a type of diabetes drug) can help control calcium and magnesium levels in people with a genetic kidney disease called ADPKD. The goal is to see if it improves kidney health over a short period.
Zurich, Canton of ZurichAges 18–75 - NCT06437158RecruitingPhase 2
Bleomycin sclerotherapy for lymphatic malformations in children
This trial tests a medicine called bleomycin, injected into lymphatic malformations (abnormal fluid-filled growths) to shrink them. It is for children under 14 whose malformations are growing quickly, causing symptoms or problems, and cannot be removed by surgery alone.
Chengdu, SichuanAges Up to 14 years
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 5,764 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.