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
- NCT05012111Recruiting
Studying bone marrow failure over time
This study looks at the natural course of bone marrow failure conditions, both inherited and acquired. It aims to understand how these diseases progress over time, which may help guide future treatments.
Bethesda, MarylandAges 2–99 - NCT05047354Recruiting
Study cholesterol metabolism in rare genetic conditions
This study looks at body chemistry (cholesterol-related lab findings) and physical features in people with Smith-Lemli-Opitz syndrome and related rare genetic cholesterol disorders. It may help researchers better understand these conditions and how they affect the body.
Bethesda, MarylandAges 1 day–100 years - NCT05011071Enrolling by invitation
Alberta BLOOM study for very premature newborns
This study follows babies born very early and their parents to learn about early health and development. It may help doctors better understand what babies need after a premature birth.
Calgary, AlbertaAges birth+ - NCT05026554Recruiting
Study of long-term eczema on hands
This trial studies chronic hand eczema (and sometimes related atopic skin disease) to better understand your condition and what may be going on in the skin. You may be asked to follow a study plan for a set period and avoid certain treatments just before joining.
Montreal, QuebecAges 18–65 - NCT05051254Recruiting
Breathing muscle testing in children with breathing muscle weakness
This study looks at how hard it is for children to breathe and how their breathing muscles work, using specific breathing-related tests. It may help doctors better understand breathing problems and choose care more effectively.
ParisAges birth–17 years - NCT05010031RecruitingPhase 2
Lower-dose radiation for metastatic cancer with an ATM mutation
This trial tests whether giving a lower dose of radiation can help control metastatic tumors that carry a specific genetic change in the ATM gene. It may reduce side effects by using less radiation, while still aiming to keep the tumor under control.
Basking Ridge, New JerseyAges 18 years+ - NCT05042258RecruitingPhase 4
Dupilumab to improve sleep and itch in children with eczema
This trial studies whether dupilumab can improve daily body clock (circadian function), sleep, and itching in children with moderate-to-severe eczema that isn’t well controlled by creams. It may help kids who are having significant sleep trouble and ongoing itch.
Chicago, IllinoisAges 6–17 - NCT05012033Recruiting
Study how high-dose steroids move through the body
This study measures blood levels of high-dose steroid medicines (prednisolone or related steroids) to understand how the body processes them in different real-life situations. It may help improve how steroids are dosed and monitored for people needing short-term or longer-term anti-inflammatory treatment.
LondonAges 18–75 - NCT05022459Recruiting
Prevent bleeding in kids with Hemophilia A who play sports
This study compares two ways to prevent bleeding in people with Hemophilia A while they play sports. It looks at whether factor VIII or emicizumab prophylaxis helps reduce bleeding during higher-risk sports activities.
Little Rock, ArkansasAges 6–19 - NCT04948658Recruiting
Freezing ovarian tissue to protect future fertility
This study looks at storing ovarian (ovary) tissue by freezing it for people at higher risk of losing fertility. It may help preserve options for having biological children later, especially for certain genetic conditions, cancer-related risks, or planned gonad removal.
Bethesda, MarylandAges 2–35 - NCT04969926Recruiting
Study of parathyroid problems in children and adults
This is an observational study that follows people who have or may develop parathyroid-related conditions. The goal is to better understand how these problems change over time and what patterns show up, which can help improve future care.
Bethesda, MarylandAges 6 months–100 years - NCT04944940Recruiting
Study tests blood, scans, and genes in SBMA and healthy men
This study looks for early “biomarkers” (measurable signs) in the body using blood tests, imaging scans, and sometimes other procedures in men with genetically confirmed spinal and bulbar muscular atrophy (SBMA). The results may help future drug studies by showing better ways to track disease changes over time.
Bethesda, MarylandAges 18–120 - NCT04933721Enrolling by invitationPhase 3
Continue berotralstat for people with hereditary angioedema
This study lets people who were already taking berotralstat through earlier BioCryst studies keep the treatment going. It looks at safety and ongoing benefit for preventing hereditary angioedema attacks.
OttawaAges 2 years+ - NCT04998396RecruitingPhase 1/Phase 2
Gene therapy trial for Canavan disease in young children
This Phase 1/2 trial tests an AAV9 gene therapy to treat Canavan disease. It aims to improve disease-related findings in children whose genetic test confirms ASPA gene changes.
Oakland, CaliforniaAges Up to 2.5 years - NCT04930289Enrolling by invitation
Lung transplant registry for better donor lung preservation
This study builds a worldwide database to track and improve how donor lungs are preserved before transplant. Your information may help doctors choose and manage donor lungs more effectively.
Phoenix, ArizonaAges Any age - NCT04970459Recruiting
Collecting samples for Marfan and related conditions
This study collects biological samples and related health information for people with Marfan syndrome or similar inherited conditions. It helps researchers better understand these conditions and may lead to improved care for patients in the future.
ToulouseAges 3–99 - NCT04989751Enrolling by invitation
Study of gene patterns in limb-girdle muscle weakness
This study looks at how specific gene changes relate to the pattern of muscle weakness in people with limb-girdle muscular dystrophy (LGMD). It may help doctors better understand the condition and improve future care.
ShanghaiAges 10 years+ - NCT04939935RecruitingPhase 3
Metformin to slow kidney decline in adults with polycystic kidneys
This Phase 3 study tests whether taking metformin can slow the decline of kidney function in adults with autosomal dominant polycystic kidney disease (ADPKD). You may be eligible if you have ADPKD and signs that your kidneys are starting to decline faster than expected.
Gosford, New South WalesAges 18–70 - NCT04928352RecruitingPhase 3
Breathing numbing medicine during cleft palate surgery
This trial tests whether a breathing treatment (nebulized numbing medicine) can reduce pain during cleft palate repair in young children. It may help comfort your child after surgery when they are under general anesthesia.
Asyut, AssuitAges 1–7 - NCT04941599RecruitingPhase 2
2-HOBA to improve “good cholesterol” function in FH
This Phase 2 trial tests whether 2-HOBA can improve how “good cholesterol” (HDL) works in people with familial hypercholesterolemia (FH). If HDL works better, it may help lower heart risk markers. You would need to meet several heart, health, and medication-related safety checks.
Nashville, TennesseeAges 18–69 - NCT04995341Recruiting
School-age follow-up study for premature babies’ eye health
This study looks at eye structure in children who were in an earlier premature-baby eye study and are now around 4.5–5 years old. It may help researchers better understand how eye disease in prematurity develops and how to monitor it.
Durham, North CarolinaAges Any age - NCT04976036RecruitingPhase 2
Nintedanib to reduce nosebleeds in adults with HHT
This trial tests whether nintedanib can reduce how often and how severe nosebleeds are in adults with hereditary hemorrhagic telangiectasia (HHT). It may help by calming blood-vessel problems that cause bleeding.
BronAges 18 years+ - NCT04929457Enrolling by invitation
Screening to detect inherited high cholesterol
This study tests a digital screening method to help identify and diagnose familial hypercholesterolemia, an inherited condition that can cause very high cholesterol. If you participate, you may be invited to complete screening steps to see whether they can find the condition early.
StockholmAges Any age - NCT04968990RecruitingPhase 2
New Wilms tumor treated with proton beam abdominal radiation
This trial studies a specific type of radiation (proton beam) given to the abdomen after surgery and/or chemotherapy in children and young people with newly diagnosed Wilms tumor. The goal is to improve cancer control while carefully targeting radiation to the right stage of disease.
Memphis, TennesseeAges Any age
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.