Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,767 recruiting studies in this area right now.
By phase
- Not applicable2,684
- Phase 2280
- Phase 1241
- Phase 3210
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)38
- 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
- Massachusetts108
- Arizona87
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,767 total
- NCT05927389Recruiting
Exercise program for kids with osteogenesis imperfecta
This trial tests an adapted physical activity program to help children and teenagers rebuild strength and improve effort/fitness. It may be helpful if you want a tailored exercise approach that is safe for osteogenesis imperfecta.
MontpellierAges 7–18 - NCT05928169Recruiting
Tracking how inflammatory skin conditions change over time
This study looks at what affects the “path” (trajectory) of long-lasting inflammatory skin conditions. It may help researchers understand why symptoms change and how treatments or factors influence those changes.
KielAges birth–80 years - NCT05916469Recruiting
Hormone treatment for heavy periods in teens and young adults
This trial studies how a progestin hormone—given as an IUD or tablets—can help reduce heavy menstrual bleeding in people with certain bleeding-related conditions. It may help you by testing whether the treatment works and is practical for your situation.
Palo Alto, CaliforniaAges 10–24 - NCT05937815Recruiting
Study of Trikafta on Gut-Lung Connection in CF
This study is looking at how a new combination medicine (Trikafta) affects the lungs and gut in people with cystic fibrosis who carry the DeltaF508 mutation. It aims to understand how the medicine works in the body.
BordeauxAges 6–17 - NCT05911139Enrolling by invitation
Study how anesthesia affects brain injury markers in craniosynostosis surgery
This study looks at how general anesthesia may affect “brain injury marker” levels during and after surgery for single-suture craniosynostosis in infants. It may help doctors better understand anesthesia timing and safety for babies having corrective surgery.
BratislavaAges Up to 18 years - NCT05917678Recruiting
Compare head-shape treatments for infants with flat spots
This study looks at whether repositioning and a custom head-shaping helmet help improve head shape in babies who have cranial deformation. You may be asked to follow standard care and have your baby monitored for changes over time.
Dallas, TexasAges 2 months–3 months - NCT05925309Recruiting
Oral antibiotics to prevent bile duct inflammation after Kasai surgery
This trial studies whether giving oral antibiotics before symptoms start can lower the chance of cholangitis (bile duct infection/inflammation) after Kasai portoenterostomy. It may help protect your child’s bile flow and reduce painful or serious infections after surgery.
Shanghai, Shanghai MunicipalityAges 2 weeks–3 months - NCT05937594Recruiting
Testing microRNA markers to spot newborn opioid withdrawal
This study looks at tiny genetic signals (microRNA) in newborn samples to identify neonatal opioid withdrawal syndrome. It may help doctors recognize withdrawal sooner, so babies can get the right care faster.
Hershey, PennsylvaniaAges 1 day–5 days - NCT05020002Recruiting
Checking RNA markers in blood and muscle in muscle disease
This study looks for tiny RNA “signals” in blood (and sometimes urine) and compares them with muscle samples in people with myotonic dystrophy (DM1 or DM2) and healthy controls. The goal is to find biomarkers that may help track the disease over time.
Boston, MassachusettsAges 5 years+ - NCT05019625Recruiting
Study samples for biomarkers in myotonic dystrophy
This study collects blood and, for some people, muscle tissue to look for signs (biomarkers) that can help track and better understand myotonic dystrophy. You may help by providing samples and basic muscle function testing, depending on your age and condition type.
Boston, MassachusettsAges 5 years+ - NCT05016908Recruiting
Testing blood and other fluid markers in Duchenne or Becker
This study looks for signals in blood and other body fluids that may help track Duchenne or Becker muscular dystrophy. It may be helpful for patients by improving how future monitoring tests are developed.
Boston, MassachusettsAges 5 years+ - NCT05532813RecruitingPhase 3
Metformin for adult myotonic dystrophy type 1 muscle weakness
This Phase 3 trial tests whether metformin can improve symptoms and safety in adults with genetically confirmed myotonic dystrophy type 1 (DM1). It may help reduce muscle problems, but you must meet specific walking, breathing, heart, and kidney requirements.
GarchesAges 18–70 - NCT05361980Recruiting
Study of safety and results of a pediatric bone implant
This study looks at whether a specific pediatric bone implant is safe and works well for children who need it. By joining, you help researchers track outcomes over time and understand possible implant-related side effects.
Vancouver, British ColumbiaAges birth–25 years - NCT05869851Recruiting
Infant hip ultrasound study: observe vs bracing
This study looks at babies under 3 months old with certain ultrasound findings of an underdeveloped hip (“hip dysplasia”). It compares outcomes between simply watching the hip and using a brace (when recommended).
Vancouver, British ColumbiaAges Up to 3 months - NCT05904093RecruitingPhase 1
Testing a new pill for sickle cell disease safety
This study tests a medication called fostamatinib to see if it is safe and tolerable for people with sickle cell disease. It may offer a new treatment option for managing the condition.
Bethesda, MarylandAges 18–65 - NCT05902351Recruiting
Study of the natural course of Charcot-Marie-Tooth disease
This study looks at how Charcot-Marie-Tooth disease (CMT) or related inherited nerve conditions change over time. It may help researchers better understand what to expect and guide future treatments.
New York, New YorkAges Any age - NCT05901077Recruiting
European cystinosis patient follow-up study
This study follows people with confirmed cystinosis to better understand the condition. It mainly checks that you have the right diagnosis and can join voluntarily.
Paris, Île-de-France RegionAges Any age - NCT05880576Enrolling by invitation
Watch study for newborns suspected of aortic arch blockage
This study uses heart ultrasound findings and related measurements to better understand blood flow in newborns with suspected blockage in the aortic arch. It may help doctors improve how they evaluate and manage coarctation of the aorta and similar heart narrowing.
Boston, MassachusettsAges birth–2 months - NCT05889507RecruitingPhase 3
Cooling treatment for newborns with mild brain injury
This Phase 3 study tests whether cooling a newborn’s body can help babies with mild brain injury after a difficult birth. It aims to see if cooling improves brain-related outcomes compared with standard care.
NaplesAges 1 hour–6 hours - NCT05907694Recruiting
Treatment of stroke from PFO, with or without closure
This study looks at whether treating a history of “cryptogenic” stroke (stroke with no clear cause) using a patent foramen ovale (PFO) closure, plus medical therapy, is better than medical therapy alone. It focuses on people over 60 with a heart shunt seen on an ultrasound of the heart.
Québec, QuebecAges 18 years+ - NCT05889013Recruiting
Nasal swab testing to guide care for kids with breathing issues
This study checks whether special nose tests help doctors choose the best treatments for children with long-term breathing and airway symptoms. It may help your child get more targeted care based on the test results.
Hartford, ConnecticutAges 2 years+ - NCT05888532RecruitingPhase 1/Phase 2
Testing a copper-based scan and treatment in advanced cancers
This Phase 1/2 trial studies a copper-labeled medicine called 64Cu-GRIP B in people with advanced, metastatic cancers. It may help doctors see where cancer is and how well the drug works, especially alongside immune checkpoint therapy for some cancer types.
San Francisco, CaliforniaAges 18 years+ - NCT05883748Enrolling by invitationPhase 2/Phase 3
Long-term study of bitopertin for EPP safety and benefit
This trial studies how safe and well bitopertin works over the long term for people with EPP. It mainly includes people who already finished an earlier bitopertin study, to keep tracking side effects and overall progress.
Birmingham, AlabamaAges 12 years+ - NCT05885412RecruitingPhase 1
Study drug for heart rhythm problems in PKP2 heart disease
This Phase 1 trial tests RP-A601 (a gene-delivery type treatment) to see if it can reduce dangerous heart rhythm problems in people with PKP2-related arrhythmogenic cardiomyopathy (ACM). Because it’s an early safety/dose study, the main goal is to check safety and how the body responds.
La Jolla, CaliforniaAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,767 recruiting medical genetics studies from the U.S. registry right now, out of 5,497 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.