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
- NCT02886611Recruiting
Study for genetic eye surface stem cell problems
This trial studies people whose eye surface problems are caused by an inherited (genetic) condition. It aims to better understand how specific genetic changes relate to symptoms, which may guide more personalized care.
ParisAges Any age - NCT04151342Recruiting
Study of Canadian adults with cancer rare DNA changes
This real-world study follows adults in Canada who have cancer that was tested and found to have rare molecular (DNA/protein) changes. It helps researchers understand how these rare findings show up and how care happens in everyday practice.
Calgary, AlbertaAges 18 years+ - NCT04916652Recruiting
Study brain flexibility in Chinese toddlers using special scans
This study uses MRI brain scans to look at how “neural flexibility” develops in typically developing toddlers. It compares toddlers who drink a specific formula gum or regular cow’s milk to understand how diet may relate to brain development.
Shanghai, Shanghai MunicipalityAges 2.7 years–2.8 years - NCT05734521Recruiting
Study of avalglucosidase alfa use during pregnancy
This study collects safety information about avalglucosidase alfa when it’s taken during pregnancy and/or while breastfeeding. If you (or your baby) were exposed to this medicine and consent to be in a pregnancy safety registry, your information may help researchers better understand risks.
Bridgewater, New JerseyAges Any age - NCT05710692RecruitingPhase 2/Phase 3
Study drug PRX-102 for Fabry disease in Japanese patients
This trial tests whether PRX-102 is safe and effective for treating Fabry disease in Japanese participants. It also measures how the drug moves through the body and affects body systems, to see if it helps your symptoms and organ function.
Chikushino-shi, FukuokaAges 13–70 - NCT05721937Recruiting
Safety study of CIBINQO in pregnancy and baby outcomes
This study tracks the safety of abrocitinib (CIBINQO) during pregnancy and what it may mean for the baby. You may join if you were pregnant recently or are currently pregnant and have taken CIBINQO, or if you have moderate-to-severe atopic dermatitis.
New York, New YorkAges birth+ - NCT05735483Enrolling by invitationPhase 3
Long-term lebrikizumab study for moderate to severe eczema
This Phase 3 trial studies whether lebrikizumab is safe and continues to work over the long term for children and teens with moderate-to-severe atopic dermatitis (eczema). It’s meant for people who already finished a related earlier study and can safely continue.
Birmingham, AlabamaAges 6 months–18 years - NCT05735717RecruitingPhase 2
T-cell transplant using depleted receptors for blood cancers
This Phase 2 study tests a specialized stem cell transplant that removes certain immune “T-cell” receptors to help treat blood cancers like acute leukemia. It may help your body rebuild a healthier immune system after high-dose treatment.
Minneapolis, MinnesotaAges Up to 60 years - NCT05736419RecruitingPhase 2
Immune-suppressing treatment before stem cell transplant for blood disorders
This Phase 2 study tests an immune-suppressing treatment for people with sickle cell disease or beta-thalassemia who are preparing for a stem cell transplant from a donor. It aims to help the transplant work better by changing the immune response.
Basking Ridge, New JerseyAges 2–50 - NCT05742321Recruiting
Study how corneal cell genetics relate to Fuchs’ disease
This study looks at how a person’s corneal cell genetic makeup relates to what happens in Fuchs’ corneal endothelial dystrophy. It may help doctors understand the disease better and guide future care, especially if you need a corneal transplant.
Saint-EtienneAges 18 years+ - NCT05740111Enrolling by invitation
Watching early for pancreatic cancer in people at high risk
This study tests a personalized “watch and check” plan to help find pancreatic cancer as early as possible in people with a strong family history or certain inherited gene changes. It may help doctors tailor how often you’re monitored based on your risk.
OsloAges 30–80 - NCT05727852Enrolling by invitation
Breath and heart tests to study lung disease stiffness
This study uses breath analysis and heart/electrical heart testing to look at how stiff the arteries are in people with long-term lung conditions. It may help researchers better understand lung disease effects on the cardiovascular system.
MoscowAges 18 years+ - NCT05715957Enrolling by invitation
Follow-up study for women who carry a DMD gene change
This study follows women who have a confirmed DMD gene mutation (a genetic change related to Duchenne/Becker muscular dystrophy) to learn more about health and muscle-related measurements. Depending on the part of the study, you may be asked to take part in MRI or other assessments.
CopenhagenAges 18 years+ - NCT05724173Recruiting
Test of a brain-to-computer device for ALS hand paralysis
This study checks whether a brain-computer interface (a BrainGate2 system) is safe and workable for people with ALS. If you qualify, you may be asked to try the device and complete study tasks to help researchers learn how well it can support communication or control.
Stanford, CaliforniaAges 18–80 - NCT05702645Recruiting
Down syndrome long-term study after leukemia treatment
This study follows children and young adults with Down syndrome who have survived acute leukemia (ALL or AML) to learn about their longer-term health after treatment ends. It may help families and doctors understand what health problems to watch for and how to provide better follow-up care.
Birmingham, AlabamaAges 6–39 - NCT05687149Recruiting
Study of mouth and throat cancer patterns in Fanconi anemia
This study looks at how squamous cell carcinoma (a type of cancer) naturally develops over time in people with Fanconi anemia. It may help doctors better recognize warning signs and plan care in the future.
Bethesda, MarylandAges 8–90 - NCT05689151Recruiting
Abrocitinib for adult moderate to severe atopic eczema
This study tests how well abrocitinib (a prescription medicine) works for adults with moderate to severe atopic dermatitis (atopic eczema). You may join if you meet the study’s health and consent requirements and your doctor believes abrocitinib is an appropriate option for you.
Amiens, SommeAges 18 years+ - NCT05708677Enrolling by invitation
Long-term follow-up after prior EB-101 treatment for RDEB
This study looks at long-term outcomes for people with recessive dystrophic epidermolysis bullosa (RDEB) who were previously treated with EB-101. It may help doctors understand how the treatment affects patients over time.
Redwood City, CaliforniaAges 6 years+ - NCT05682378RecruitingPhase 3
Long-term follow-up for inclisiran in young people with inherited high cholesterol
This study follows people with HeFH or HoFH (inherited high cholesterol) who previously took inclisiran in specific pediatric ORION studies. It mainly checks long-term safety and how well the treatment continues to be tolerated over time.
Boca Raton, FloridaAges 2–100 - NCT05697861Enrolling by invitation
Follow-up study for people previously treated with NTLA-2001
This study checks how people are doing long-term after receiving NTLA-2001 in an Intellia clinical trial. If you previously took part and agree to be followed, this may help the researchers understand lasting safety and effects.
ParisAges 18 years+ - NCT05677971RecruitingPhase 3
Tested medicine to treat liver scarring in PiZZ alpha-1 disease
This Phase 3 study tests fazirsiran for safety and whether it can help people with a specific genetic form of alpha-1 antitrypsin–related liver disease that causes liver scarring. You may be eligible if you have the PiZZ genetic type and moderate-to-severe fibrosis, with certain lung and liver conditions ruled out.
Birmingham, AlabamaAges 18–75 - NCT05683418RecruitingPhase 1
Study of a new drug for PIK3CA-mutated HR+ HER2- breast cancer
This early-stage study tests the safety and tolerability of TOS-358 in women with HR-positive, HER2-negative breast cancer that has a specific gene change (PIK3CA). It may help learn whether this targeted treatment is safe enough to move forward.
Chicago, IllinoisAges 18 years+ - NCT05682144RecruitingPhase 1
Cell therapy for MPS I to improve immune function
This Phase 1 study tests an engineered cell therapy made to help the body in people with MPS I (Hurler-Scheie or Scheie). It is early-stage research, so the main goal is to learn about safety and the best way to treat.
Oakland, CaliforniaAges 10 years+ - NCT05675722RecruitingPhase 1
Vaginal reconstruction implant test for women born without a vagina
This Phase 1 study tests a vaginal implant/reconstruction device for people born with a missing or closed-off vagina. The goal is to check safety and how well the implanted vaginal tissue construct works over follow-up visits.
Winston-Salem, North CarolinaAges 15–45
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.