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 applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- 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
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT00254605Recruiting
Retinal photo imaging for inherited eye conditions
This study uses special pictures of the back of your eye (retinal imaging) in people with inherited retinal degeneration. It may help researchers learn how these conditions look and change over time, and it can be a way for you to receive detailed eye imaging.
San Francisco, CaliforniaAges 13 years+ - NCT00768820RecruitingPhase 4
Study brain and mental health in people with 22q11 deletion
This trial looks at how thinking and mental health (psychiatric symptoms) show up in people who have a specific chromosome deletion. It may help researchers understand patterns in this condition and improve future care.
Petah TikvaAges Any age - NCT00001975Recruiting
Skin Tumors and Tuberous Sclerosis Study
This study looks at skin growths that develop in people with tuberous sclerosis (a genetic condition affecting multiple organs). Researchers want to understand these skin changes better and may test new treatments to help manage them.
Bethesda, MarylandAges 18–90 - 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 - NCT00001405Recruiting
Blood Cell Collection Study for Immune and Blood Disorders
This study collects blood cells and bone marrow from people with immune system or blood disorders, and from healthy volunteers. Researchers will study these cells and may convert them into special stem cells (iPS cells) to better understand diseases and develop treatments.
Bethesda, MarylandAges 18–70 - NCT01222741Recruiting
Study of people with higher risk of fungal infections
This study looks at immune system differences that can make some people get unusual or frequent fungal (fungus) infections. It may help researchers better understand these conditions, and you may be asked to store blood for future research.
Bethesda, MarylandAges 18–85 - 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 - NCT00455104Recruiting
Fabry disease registry for Canadians and eligible adults
This study is a national registry that collects health and medical information from people with Fabry disease. It helps researchers better understand the condition and plan future care and studies.
Calgary, AlbertaAges 5–85 - 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 - NCT00006150Recruiting
Understanding Hyper-IgE Syndrome: Natural History and Genetics
This study follows people with or suspected Hyper-IgE syndrome (a rare immune disorder causing repeated infections and skin problems) to understand how the condition develops, how best to manage it, and which genes are involved. Researchers also welcome healthy relatives of patients to help identify genetic patterns.
Bethesda, MarylandAges 1 month–120 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 - NCT00001456Recruiting
Understanding Hermansky-Pudlak Syndrome: Research Study
This research study investigates Hermansky-Pudlak Syndrome (HPS), a rare genetic condition affecting blood clotting and skin color. Researchers are looking for people with HPS or their family caregivers to participate in clinical evaluations and questionnaires to better understand the condition.
Bethesda, MarylandAges 1 month–115 years - NCT01778543Recruiting
Study genes behind small eyes and eye coloboma
This study looks at how genes may cause certain eye conditions called microphthalmia, anophthalmia, and uveal coloboma. You may qualify if you have one of these conditions or are a close, unaffected relative who could also carry the gene.
Bethesda, MarylandAges 1–100 - 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+ - NCT02050113Recruiting
Custom endograft repair for complex aortic aneurysms
This trial tests custom-made and doctor-modified grafts to treat complex bulges in the aorta (the body’s main artery) or the part going into the pelvis. It may help people who cannot use standard approved devices or who need treatment urgently because waiting is unsafe.
Worcester, MassachusettsAges 18 years+ - NCT00243776Recruiting
Study of heart tissue changes during certain heart surgeries
This study collects and analyzes small samples of heart tissue during specific heart operations in babies or children. The goal is to better understand how the heart develops after birth, which could improve future care.
Atlanta, GeorgiaAges Up to 20 years - NCT00081523Recruiting
Understanding How Sickle Cell Disease Develops Over Time
This research study follows people with sickle cell disease to learn how the condition affects their health over many years. By studying patients regularly, researchers hope to better understand the disease and improve care.
Washington D.C., District of ColumbiaAges 2–90 - NCT00004568Recruiting
Study of inherited neurological disorders and family genetics
This research study evaluates people with inherited neurological conditions (nervous system disorders that run in families) and their relatives. Researchers aim to better understand these conditions and improve diagnosis through clinical exams and genetic testing.
Bethesda, MarylandAges 2–120 - NCT00001532Recruiting
How Genes Affect Lung Disease Development
This research study examines how genetic factors contribute to various lung diseases, including alpha-1 antitrypsin deficiency, cystic fibrosis, and chronic obstructive pulmonary disease. Researchers want to understand why some people develop lung disease and how genetics plays a role, which may help improve treatment in the future.
Bethesda, MarylandAges 2–90 - NCT00041600Recruiting
Brain Development and Genetic Study for Family Members
This research study investigates how genetic factors affect brain development and function in families where members have brain malformations, intellectual disability, or autism. Researchers hope to identify genetic causes that could lead to better understanding and future treatments.
Boston, MassachusettsAges Any age - NCT00128973Recruiting
Study immune system problems in people with unusual infections
This study looks at how the immune system works in people who have abnormal immune function, often shown by unusual or repeated infections or long-lasting inflammation. It may involve tests using blood samples and storage of blood for future research.
Bethesda, MarylandAges 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 - 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 - NCT00051857Recruiting
MRI Study of Muscle and Bone Function
This research study uses MRI scans (a safe imaging tool) to understand how bones, muscles, and joints work. Researchers are looking for both people with muscle or bone injuries and healthy volunteers to compare how the body moves and functions.
Bethesda, MarylandAges 5–95
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 5,795 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.