Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- 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
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT06945081Recruiting
Measuring skin elasticity in Wilson's disease patients on D-Penicillamine
This study checks if D-Penicillamine, a treatment for Wilson's disease, causes skin damage by measuring skin elasticity on the forearm and cheek. It compares results between patients taking the drug and healthy volunteers matched by age and sex.
BronAges 12 years+ - NCT06950892Recruiting
Remote sputum collection study for cystic fibrosis
This study tests if people with cystic fibrosis can collect sputum samples at home and mail them in, instead of coming to the clinic. It aims to make participation easier for patients.
Denver, ColoradoAges 18 years+ - NCT06947252Enrolling by invitation
Food allergy test for kids with eczema avoiding certain foods
This trial tests if children with eczema who avoid certain foods actually have a food allergy. It uses a supervised oral food challenge to confirm.
BangkokAges Up to 6 years - NCT06951516Recruiting
Can simple language help young kids with Down syndrome learn?
This study looks at whether using simpler language helps children with Down syndrome understand and learn better. It is for children ages 2 to 7 who speak English as their main language.
East Lansing, MichiganAges 2–7 - NCT06946641RecruitingPhase 1
Testing QLS12010 safety in healthy adults and people with eczema
This trial tests a new drug, QLS12010, to see if it is safe and how it works in healthy volunteers and in people with moderate to severe atopic dermatitis (eczema). It may offer a new treatment option for those whose eczema has not improved with topical creams.
BeijingAges 18–75 - NCT06943469Recruiting
Study of special formula for babies with allergy risk
This study tests a special baby formula (partially broken-down protein with added prebiotics and probiotics) to see if it helps strengthen babies' skin barrier and reduce allergy risk. It's designed for newborns who have a family history of allergies.
BrugesAges 1 day–2 weeks - NCT06947993RecruitingPhase 2
Study of a new treatment for moderate to severe eczema
This study tests an experimental treatment for people with moderate to severe eczema that has lasted at least a year. It aims to see if the new medicine can help control symptoms better than current options.
Birmingham, AlabamaAges 18–100 - NCT06950385RecruitingPhase 3
Testing eRapa medicine for FAP
This trial tests a new medicine called eRapa for people with Familial Adenomatous Polyposis (FAP), a condition that causes many polyps in the colon and raises the risk of cancer. The goal is to see if eRapa can help reduce polyps and improve outcomes.
Arcadia, CaliforniaAges 18 years+ - NCT06947980RecruitingPhase 2
Study of CM512 for moderate-to-severe atopic dermatitis
This trial tests a new treatment called CM512 for people with moderate-to-severe eczema (atopic dermatitis). It aims to see if the drug can improve skin symptoms like itching and rash.
BeijingAges 18–75 - NCT06634108RecruitingPhase 1/Phase 2
Genistein for heart failure from ATTR amyloid cardiomyopathy
This trial tests whether genistein, a plant-based supplement, can help people with a specific type of heart disease called ATTR amyloid cardiomyopathy. You might join if you have heart failure with reduced pumping function and this rare protein condition.
London, OntarioAges 40–80 - NCT06940713Recruiting
Brain imaging study for newborn infants
This study uses a safe, non-invasive ultrasound technique to measure brain activity in newborn babies. It aims to understand brain development and connectivity in preterm infants, infants with birth-related oxygen deprivation, growth-restricted babies, siblings of children with autism, and healthy full-term babies.
ParisAges Up to 5 months - NCT06931990RecruitingPhase 1/Phase 2
Testing a new tablet for eczema in Chinese adults
This trial tests an experimental tablet (LT-002-158) for adults with moderate-to-severe eczema that hasn't improved enough with standard creams. The goal is to see if the tablet is safe and helps control symptoms.
Beijing, Beijing MunicipalityAges 18–75 - NCT06940336RecruitingPhase 4
Testing tafamidis for transthyretin amyloid polyneuropathy
This trial tests whether the drug tafamidis can help people with a specific type of nerve damage caused by abnormal protein buildup. It aims to slow or improve symptoms in adults with this condition.
JinanAges 18–80 - NCT06940193Enrolling by invitation
Egoo Phe home test for phenylalanine levels in PKU
This study tests a new home blood test (Egoo Phe) for measuring phenylalanine levels in people with PKU, as well as in healthy adults. It aims to see if it is accurate and easy to use.
BirminghamAges Up to 3 years - NCT06941025Recruiting
Safety of Elfabrio in pregnant and breastfeeding women with Fabry disease
This study follows women with Fabry disease who took the medicine Elfabrio during pregnancy or breastfeeding to see if it is safe for them and their babies. It helps doctors learn more about how this treatment affects mothers and infants.
Washington D.C., District of ColumbiaAges Any age - NCT06941532Recruiting
Study of GMP powder for PKU and tyrosinemia
This trial tests a new powdered protein substitute (GMP) for people with PKU or tyrosinemia. It aims to see if it is a safe and effective option to help manage their condition.
BirminghamAges 3 years+ - NCT06935019Enrolling by invitation
Genome sequencing for kids with undiagnosed rare diseases
This study offers genome sequencing (a complete look at your child's DNA) to help diagnose a suspected rare disease faster. It's for children who are newly referred to the genetics clinic at SickKids or CHEO and haven't had this type of testing before.
Ottawa, OntarioAges Up to 18 years - NCT06935461Enrolling by invitation
Support program for infants and toddlers with prenatal alcohol exposure
This study tests a program called 'Families Moving Forward Bridges' for infants and toddlers (6–36 months) who were exposed to alcohol before birth and have developmental delays. It helps families support their child's growth and development.
Shoreline, WashingtonAges 6 months+ - NCT06940856Recruiting
Chloride imbalance in preterm babies
This study looks at chloride levels in preterm babies admitted to the neonatal intensive care unit (NICU) within their first day of life. It aims to understand chloride imbalance and how it might affect their health.
Istanbul, TurkeyAges 1 hour–1 month - NCT06941389Recruiting
Comparing stem cell transplant vs standard therapy for sickle cell disease
This study compares two treatment approaches for children with sickle cell anemia: a stem cell transplant from a matched family donor versus continuing regular disease-modifying medicines. It aims to see which treatment works better over time.
Birmingham, AlabamaAges 3–20 - NCT06934759Enrolling by invitation
Parents' experience of a child with a large birthmark
This study explores how parents feel and cope when their child has a large congenital melanocytic nevus, a type of birthmark. You would take part in a one-on-one interview to share your experience.
Nancy, FranceAges 18 years+ - NCT06940531Recruiting
Tracking causes of lung flare-ups in cystic fibrosis
This study aims to understand what causes and increases the risk of lung infections (exacerbations) in people with cystic fibrosis. It involves regular monitoring and sample collection at home and in the clinic to identify early warning signs.
Manchester, ManchesterAges 5 years+ - NCT06933212Recruiting
Mediterranean diet for CADASIL and CAA
This trial is testing whether a Mediterranean diet (rich in fruits, vegetables, whole grains, and healthy fats) can help people with CADASIL or cerebral amyloid angiopathy (CAA) — two conditions that affect blood vessels in the brain. If you have one of these diagnoses, the study may help you understand how diet can support your brain health.
MilanAges 18 years+ - NCT06938542Enrolling by invitation
Palliative care needs for kids with rare diseases
This study asks children with rare diseases and their families about what kind of palliative care (comfort and support) they need. It aims to understand how to better help families through their child's illness.
Washington D.C., District of ColumbiaAges 1–99
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.