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
- NCT01905826Recruiting
Study of GATA2 deficiency causes and health outcomes
This natural history study looks at how GATA2 deficiency (a genetic condition) affects health over time. It may help doctors better understand complications and plan future care, and it includes genetic testing and stored samples.
Bethesda, MarylandAges 2–100 - NCT01429389Recruiting
Testing genetic samples in pregnancy to check chromosome changes
This study collects genetic samples from pregnant people who have a higher chance of chromosome changes in the baby. It tests whether taking samples through CVS and/or amniocentesis can help understand the baby’s genetic makeup.
Birmingham, AlabamaAges 18 years+ - NCT01633489Recruiting
LAL deficiency patient registry
This study keeps a protected record of people with Lysosomal Acid Lipase (LAL) deficiency to learn more about the condition over time. It may help researchers better understand how patients are doing and support future studies.
Phoenix, ArizonaAges Any age - NCT02098863Recruiting
Research program for people with sickle cell disease on hydroxyurea
This trial program studies sickle cell disease and how treatment works, especially for people who are already taking hydroxyurea at a stable, maximum tolerated dose. It may help researchers better understand treatment effects and side effects in real patients.
Peoria, IllinoisAges Any age - NCT01668186Recruiting
Study of how peroxisome disorders change over time
This study follows people with peroxisome biogenesis disorders (PBD) or closely related enzyme/protein defects to learn how symptoms and health changes over time. It may help researchers better understand the condition and plan future treatments.
Montreal, QuebecAges Any age - NCT02081768RecruitingPhase 3
Yttrium radiation liquid for cyst-like brain tumors near the pituitary
This Phase 3 trial studies a radioactive liquid called yttrium colloid (90Y) given around the time of surgery for cyst-like tumors near the pituitary gland. The goal is to see if it can improve treatment when you need an operation.
Halifax, Nova ScotiaAges 17 years+ - NCT01630447Recruiting
Study of cherubism genes and how the condition works
This study looks at the genes in people with cherubism to understand how the condition develops. If you have cherubism—or are part of a family where cherubism is being studied—you may be invited to take part.
Farmington, ConnecticutAges Any age - NCT02069756Recruiting
Duchenne and Becker muscular dystrophy registry
This registry collects information about people with Duchenne or Becker muscular dystrophy, including women who carry the gene (with or without symptoms). It may help researchers better understand the condition and plan future studies.
Washington D.C., District of ColumbiaAges Any age - NCT02132741Recruiting
Eye imaging study in people with kidney disease
This study uses a painless eye scan to learn more about how kidney disease may be linked to eye changes. It may help improve understanding and future care for people with chronic kidney disease and/or high blood pressure.
Edinburgh, MidlothianAges 18–80 - NCT01581424Recruiting
Study how kidney findings change in Fabry disease
This study looks at the natural course of Fabry disease in the kidneys and how different kidney test results relate to each other. It may help doctors better understand kidney progression and treatment outcomes, including for people who have or have not had enzyme replacement therapy.
Minneapolis, MinnesotaAges 1–75 - NCT01852370Enrolling by invitationPhase 1/Phase 2
Lung and bone marrow transplant plan for immune system disorders
This early-phase study tests a step-by-step transplant approach: first replacing the lungs, then doing a bone marrow (stem cell) transplant to treat certain immune deficiency diseases. It may help people whose immune problem has led to severe, end-stage lung disease.
Pittsburgh, PennsylvaniaAges 5–45 - NCT02118922Recruiting
Testing a light-scanning eye exam to diagnose corneal thinning
This study tests whether a special “Brillouin” microscope scan can spot corneal ectasia and related cornea conditions. It may help doctors diagnose problems earlier and better sort out who needs closer eye care.
Boston, MassachusettsAges 20–75 - NCT01665326Recruiting
Pompe disease screening and follow-up study
This study follows people with Pompe disease over time and checks their “CRIM status,” which is a lab result about a key protein. It may help researchers better understand the disease and how it progresses for different patient groups.
Durham, North CarolinaAges Any age - NCT01561157Recruiting
Porphyria study tracking patients for long-term research
This study follows people with porphyria over time to learn more about the disease, its symptoms, and how it affects daily life. By tracking patients, researchers hope to improve care and understanding of this rare group of conditions.
Birmingham, AlabamaAges 1 minute+ - NCT02012699Recruiting
Cancer registry for people with or at risk of cancer
This trial collects health information and samples (a “cancer repository”) to help researchers study cancer and cancer risk. You may be able to join if you’ve had cancer before or if you’re at higher risk or have concerning findings.
Greenwood Village, ColoradoAges 19–110 - NCT01761981Recruiting
Registry for patients with hereditary bleeding vessel disease (HHT)
This is a patient registry that collects information about people with hereditary hemorrhagic telangiectasia (HHT). It may help doctors better understand the condition and improve care over time.
Buenos Aires, Buenos AiresAges Any age - NCT01659749Recruiting
Support and nutrition programs for women with PKU
This study looks at how educational, social support, and nutrition help affect pregnancy outcomes and quality of life in women with PKU. It may help you better manage PKU-related needs before and during pregnancy.
Atlanta, GeorgiaAges 11 years+ - NCT02042326RecruitingPhase 2
Sirolimus trial for severe arteriovenous malformations
This trial studies whether sirolimus (Rapamune®) can reduce problems from severe arteriovenous malformations (tangled blood vessel connections). It may help shrink the abnormal vessels or improve symptoms, by testing the medicine in people with certain AVM types.
BrusselsAges 2 years+ - NCT01666080Recruiting
Second bone marrow transplant with gentler chemotherapy
This trial studies a “reduced intensity” second transplant using donated blood-forming cells, for people whose first transplant did not fully and reliably restart blood production. It aims to improve donor blood cell growth while using a less harsh conditioning approach.
Minneapolis, MinnesotaAges Up to 55 years - NCT01803906Enrolling by invitation
Tissue sample study for suspected mitochondrial disorders
This study collects tissue samples to help researchers learn more about mitochondrial disorders—conditions related to how the body makes energy. It may help by improving genetic understanding for families who suspect an inherited cause.
New York, New YorkAges Any age - NCT01866371Recruiting
High-detail eye scans for children and adults
This study tests a high-resolution imaging method that takes very detailed pictures of the retina (the light-sensing layer at the back of the eye). You might benefit by getting your eye health checked in a structured imaging study—if you’re able to comfortably complete the scan.
Philadelphia, PennsylvaniaAges 7 years+ - NCT01694940Recruiting
Mitochondrial disease registry and sample collection study
This trial builds a large database and collection of lab results, and possibly tissue samples, from people with suspected or diagnosed mitochondrial conditions. It helps researchers learn more about these disorders and mitochondrial DNA changes, which may improve future diagnosis and treatments.
San Diego, CaliforniaAges Any age - NCT01630421Recruiting
Study genes behind aplasia cutis congenita (ACC)
This study looks at the genes and body effects behind aplasia cutis congenita (ACC). It is mainly for people who have ACC, and it may include unaffected family members only if they are part of a research family group.
Farmington, ConnecticutAges Any age - NCT01689584Recruiting
Study of genetic variants in cancer families
This study looks at how a specific DNA genetic change (variant) runs within cancer families. It may help researchers better understand cancer risk and improve genetic testing and interpretation.
Bastia, CorsicaAges 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.