Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,864 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3217
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- 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 Human Genome Research Institute (NHGRI)23
Where studies are running
- California340
- Maryland161
- Alabama130
- Massachusetts116
- New York84
- Arizona76
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,864 total
- NCT00001215Enrolling by invitation
Understanding Genetic Lysosomal Storage Disorders
This study aims to understand genetic factors in lysosomal storage disorders—rare conditions where the body cannot break down certain substances. Researchers will collect information from patients with these disorders, their family members, and healthy volunteers to learn how these diseases develop and affect people over time.
Bethesda, MarylandAges 1 week–110 years - NCT00027274Recruiting
Cancer risk in inherited bone marrow failure syndromes
This study looks at why people with inherited bone marrow failure syndromes (rare genetic conditions affecting blood cell production) have higher cancer risk. Researchers want to understand the genetic and medical factors that increase cancer likelihood, which could help doctors monitor and protect affected patients and their families.
Bethesda, MarylandAges 1 day–100 years - NCT00344331Recruiting
Testing blood and MRI markers for Niemann-Pick type C
This study measures biochemical (blood/biologic) markers and may use clinical evaluation and MRI to better understand Niemann-Pick disease type C. It could help improve how the condition is tracked and understood over time.
Bethesda, MarylandAges 1 day–120 years - NCT00029965Recruiting
Understanding rare storage diseases over time
This study follows people with rare genetic conditions (GM1, GM2, sialidosis, or galactosialidosis) that affect how the body breaks down certain substances in cells. Researchers track how these diseases progress to better understand them and potentially help future patients.
Bethesda, MarylandAges 1 day–100 years - NCT02077894Recruiting
Genetic testing to help identify inherited eye conditions
This study uses whole exome and whole genome genetic tests to look for DNA changes linked to inherited or congenital eye problems. It may help families and doctors better understand the cause of the eye condition and guide future care.
Bethesda, MarylandAges 1 day–120 years - NCT02504853Recruiting
Study food allergy patterns and genetics over time
This study follows people with food allergy and some closely related or healthy people to learn how food allergy (and related conditions) develops over time. It may help researchers find causes and better ways to predict and treat food allergy.
Bethesda, MarylandAges 1 day–99 years - NCT01432847Recruiting
Collecting eye-related samples to study eye diseases
This study collects samples like blood and a small skin biopsy (and sometimes urine, hair, or saliva) to better understand causes of eye diseases. The goal is to study eye conditions and may help researchers build better tests or treatments.
Bethesda, MarylandAges 1 day–120 years - NCT00250159Recruiting
Natural history study for hormone-related excess androgen
This study follows people who may have too much “androgen” (a hormone) to learn what causes it and how it changes over time. You may be followed even if the exact cause is not yet known, and your results may help doctors better understand these conditions.
Washington D.C., District of ColumbiaAges 1 day–99 years - NCT00001373Recruiting
Understanding the genetics of autoinflammatory diseases
This study collects genetic samples and medical histories from people with autoinflammatory diseases (like Familial Mediterranean Fever), their relatives, and healthy volunteers to understand how these conditions run in families and what causes them. Participation mainly involves providing a mail-in DNA sample.
Washington D.C., District of ColumbiaAges 2 months–115 years - NCT03206099Recruiting
Genetic testing study for people linked to other NIH research
This study collects and sequences (reads) your DNA to help researchers understand health and disease. You may be invited because you are connected to another NIH study, and you must agree to testing, sample storage, and sharing de-identified genetic data for future research.
Washington D.C., District of ColumbiaAges 1 day–100 years - NCT06192511Recruiting
New consent process for use of newborn screening blood samples
This trial tests a new, easier-to-understand consent process for mothers who just gave birth. If you join, you will be asked for permission to use a small leftover blood sample from your baby's newborn screening for research purposes.
Salt Lake City, UtahAges 18 years+ - NCT05503771Recruiting
Help pediatricians coach safe infant sleep using clinic records
This trial tests a new way for pediatricians to give parents clear, consistent guidance on how to keep infants safely sleeping. It uses information in the electronic medical record during early well-baby visits to improve counseling.
Baltimore, MarylandAges 3 days–75 years - NCT06302348RecruitingPhase 3
Sepiapterin study for phenylketonuria
This study tests a new medicine called sepiapterin to see if it can help control blood phenylalanine levels in people with PKU. The trial aims to find a safe and effective dose for different age groups.
Indianapolis, IndianaAges Up to 9 years - NCT07262983RecruitingPhase 1
Baricitinib for Job syndrome with lupus or eczema
This study tests if baricitinib, a pill that changes how your immune system works, is safe and tolerable for people with Job syndrome who also have lupus-like disease or severe eczema. It might offer a new treatment option for these skin and immune problems.
Bethesda, MarylandAges 12–120 - NCT07246941RecruitingPhase 1
Safety of RG6496 in Huntington's disease
This is an early-phase study testing a new drug (RG6496) for people with Huntington's disease. The study will check the drug's safety and how the body processes it, and it requires two doses given about 6 months apart.
Ciudad Autonoma Bs AsAges 25–65 - NCT06373289Recruiting
Blood pressure in lung arteries and oxygen levels in preemies
This study tests whether changing oxygen targets in preterm infants with high blood pressure in the lungs (pulmonary hypertension) helps their heart and lungs work better. It may help doctors find the best oxygen levels for these babies.
Birmingham, AlabamaAges 1 month–5 months - NCT06914609RecruitingPhase 3
Study of ION582 for people with Angelman syndrome
This trial tests a new medicine called ION582 for people with Angelman syndrome. It aims to see if it can help with symptoms and is given as a lumbar puncture (spinal tap). You may be able to join if you have a genetic diagnosis of Angelman syndrome and are between 2 and 50 years old.
Los Angeles, CaliforniaAges 2–50 - NCT06595940Recruiting
Genetic study of unusual disease in non-US populations
This study looks for genetic causes of rare or unusual disease patterns in people living outside the United States. If you or a family member has a condition that seems to run in the family, started very early, or has an unusual form, you may be asked to provide a DNA sample and medical history.
MokaAges 2–100 - NCT04616560RecruitingPhase 2
New drug for recurrent Wilms tumor, osteosarcoma, and DSRCT
This trial tests a targeted drug called trastuzumab deruxtecan for children and young adults with certain cancers that have come back or not responded to treatment. It may help if your tumor has not responded to standard therapies.
Birmingham, AlabamaAges 12–39 - NCT07114718Recruiting
Stent for babies with heart defect needing extra blood flow
This trial tests a special stent for babies with a heart defect that needs a temporary blood vessel to stay open. The stent is placed to help blood flow to the lungs until the baby can have a more permanent surgery.
Los Angeles, CaliforniaAges 1 minute–6 months - NCT06533098RecruitingPhase 3
Nipocalimab vs IVIG for FNAIT in pregnancy
This study tests a new medicine called nipocalimab compared to standard IVIG treatment for pregnant women who are at risk of a serious condition where the mother's antibodies attack the baby's platelets (FNAIT). The goal is to see if nipocalimab can prevent complications like bleeding in the baby.
Birmingham, AlabamaAges 18–45 - NCT05610787Enrolling by invitation
Testing a device that helps move an EXCOR pediatric heart pump
This trial studies an “active driving” system that controls the EXCOR pediatric heart pump. It’s meant for children who need a heart pump as a bridge to heart transplantation, to help the pump work more safely and effectively.
Los Angeles, CaliforniaAges Up to 21 years - NCT07405164RecruitingPhase 3
Long-term extension study for people taking belzutifan
This study is for people who are already taking belzutifan in a related trial (LITESPARK-043) and want to continue treatment for advanced solid tumors or von Hippel-Lindau-related conditions. It tests the safety and effects of long-term use.
Boston, MassachusettsAges 18 years+ - NCT07667387RecruitingPhase 1/Phase 2
Base editing study for severe urea cycle disorders
This trial tests a new medicine called LNP.UCD.ABE that aims to fix a specific genetic change causing a severe urea cycle disorder. It uses a technique called base editing to correct the gene mutation, which may help your body break down ammonia better.
Philadelphia, PennsylvaniaAges 1 day–5 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,864 recruiting medical genetics studies from the U.S. registry right now, out of 5,713 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.