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
- NCT06529042Enrolling by invitation
Sickle Cell Risk in Pregnancy Tool Study
This study is developing a risk assessment tool to help predict complications in pregnant women with sickle cell disease. It reviews medical records from women who have received prenatal care and given birth at participating hospitals.
Baltimore, MarylandAges 16–60 - NCT06526117RecruitingPhase 4
Stroke Prevention in Nigeria 2 Trial
This trial tests whether giving hydroxyurea (a medicine that helps prevent strokes) to children with sickle cell disease who have high-risk blood flow in their brains can stop strokes from happening. It's for kids in Nigeria who are at the peak age for stroke risk (5–12 years old).
KanoAges 5–12 - NCT06523179Recruiting
Liver cancer risk study for people with fatty liver disease
This study looks at your risk of developing liver cancer (hepatocellular carcinoma) if you have a liver condition such as NAFLD or a related disease. It aims to improve how doctors predict who might be at higher risk, so they can offer better monitoring and care.
Milan, MilanoAges 45–75 - NCT02544100Recruiting
Study for newborns with brain or nervous system problems
This study enrolls newborns (within the first 28 days of life) who have specific brain or nervous system conditions. It tests how these conditions are tracked and studied, which may help improve care and understanding over time.
Shanghai, Shanghai MunicipalityAges Up to 4 weeks - NCT06525636RecruitingPhase 1/Phase 2
Study of a new drug for X-linked hypophosphatemia
This study tests an investigational drug called KK8123 for adults with X-linked hypophosphatemia (XLH), a rare condition that causes low phosphate levels and can lead to bone problems. The goal is to see if it helps improve phosphate levels in the body.
San Francisco, CaliforniaAges 18–65 - NCT06523400RecruitingPhase 3
Mexiletine for myotonic dystrophy types 1 and 2
This trial tests a once-daily drug called mexiletine PR to see if it can help reduce muscle stiffness (myotonia) in people with myotonic dystrophy type 1 or 2. It may be a good option if you have a confirmed genetic diagnosis and are at least 16 years old.
LeuvenAges 16 years+ - NCT05996133RecruitingPhase 4
Neck Numbing Shot vs. Sham for Neck Surgery Pain
This trial tests whether a numbing injection (called a multifidus cervicis plane block) in the neck muscles helps reduce pain after back-of-the-neck fusion surgery. Half the participants will get the real block, the other half a sham (fake) block, to see if it really works.
Hartford, ConnecticutAges 40–80 - NCT02824822Recruiting
Genetic test study for heart rhythm risk in people with seizures
This study checks whether genetic markers are linked to heart rhythm problems in people with epilepsy or seizure-related events, and in some close relatives. It may help doctors better spot who is at risk for dangerous heart rhythm issues.
Rochester, MinnesotaAges 18–50 - NCT06078852Recruiting
FSHD Diaphragm Ultrasound Study
This study uses ultrasound to look at the diaphragm in people with FSHD. It aims to better understand how FSHD affects breathing muscles over time.
RomaAges 18 years+ - NCT06507748Recruiting
Measuring pain with a finger device in NF1
This study tests a new way to measure pain and other sensations in people with NF1 using a device that clips onto a finger or toe. The device looks at how your pupil reacts to mild pulses, which may help doctors better understand your pain.
Washington D.C., District of ColumbiaAges 1–120 - NCT06504160RecruitingPhase 1
Testing a bacteria cream for eczema (TIME-2)
This study tests whether a cream made from a friendly skin bacteria (Staphylococcus hominis) can help treat eczema. Eligible participants will apply the cream to eczema patches on their arms, legs, or trunk for several weeks.
San Diego, CaliforniaAges 6 years+ - NCT06501092Recruiting
Study of the Point Mini prosthetic hand for children
This study tests a new type of prosthetic hand device called the Point Mini. It is designed for children and teens who have partial hand differences, and aims to see how well it works in everyday use at home.
Lafayette, ColoradoAges 3–17 - NCT06512454Recruiting
Study on inherited alpha-1 antitrypsin deficiency and related liver problems
This study looks at how alpha-1 antitrypsin deficiency affects the liver in adults. It aims to learn more about the liver problems caused by this condition and may help find better ways to manage them.
Gainesville, FloridaAges 18 years+ - NCT06505603Recruiting
PiMZ alpha-1 deficiency progression study
This study is looking at people with a specific mild form of alpha-1 antitrypsin deficiency (PiMZ) to understand how their lung disease progresses over time. It involves lung function tests and CT scans, and may help researchers learn more about the condition.
Birmingham, AlabamaAges 18 years+ - NCT06507956Recruiting
Physical activity and sitting habits in adults with cystic fibrosis
This study looks at how physically active and sedentary adults with cystic fibrosis are. It uses a device to measure your daily movement and asks you to fill out a few questionnaires. The goal is to better understand your activity patterns and find ways to help you stay healthy.
Pierre-BéniteAges 18–65 - NCT06512935Recruiting
Ventilator study for preterm infants with lung recovery
This study tests a new way of setting the ventilator for preterm babies born before 34 weeks who are still on a breathing machine. It aims to improve lung healing and heart function by finding the best pressure settings. The results could help your baby breathe more comfortably.
Birmingham, AlabamaAges 1 week–4 weeks - NCT06502171RecruitingPhase 1
Cabozantinib and selumetinib for plexiform neurofibromas
This trial tests a combination of two targeted drugs (cabozantinib and selumetinib) for people with NF1 who have plexiform neurofibromas that are growing or causing significant problems. The goal is to see if this combination can shrink or slow the growth of these tumors.
Birmingham, AlabamaAges 16 years+ - NCT06507007Recruiting
Inner ear function in Turner syndrome
This study looks at why some people with Turner syndrome have inner ear problems. It uses MRI and CBCT scans to understand the genetic and epigenetic causes.
HerningAges 18–60 - NCT06504433Recruiting
Natural history of mitochondrial diseases
This study follows people with mitochondrial disease over time to learn more about how the condition progresses. It may help researchers find better ways to manage and treat mitochondrial diseases in the future.
Randwick, New South WalesAges 18 years+ - NCT06506734Recruiting
Dental color changes and quality of life in early jaundice
This study looks at how early and long-lasting jaundice (high bilirubin levels) affects tooth color and quality of life in children with certain liver conditions. It aims to understand these effects to improve care.
BordeauxAges 12–18 - NCT06506461RecruitingPhase 1
Gene editing for sickle cell disease in young adults
This trial uses gene editing to fix your own blood stem cells, so you can stop having severe sickle cell crises. It is for young adults with frequent pain episodes or who need regular blood transfusions.
Memphis, TennesseeAges 18–24 - NCT06513026Recruiting
Milk for diabetes prevention
This study tests whether drinking milk daily can help prevent type 2 diabetes in people with prediabetes and a specific gene variation. You'll be asked to drink milk or a placebo drink for several weeks while researchers monitor your blood sugar and health.
The Bronx, New YorkAges 18–70 - NCT06504589Recruiting
Study for CF treatments for people without modulators
This study tests new treatments for cystic fibrosis in people who cannot take or choose not to take current CFTR modulators. It aims to find better options for managing CF.
Birmingham, AlabamaAges 12 years+ - NCT06497673Enrolling by invitation
Human cell atlas building project
This study is building a detailed map of human cells using samples from people of all ages, both healthy and with various conditions. It aims to understand how cells work in health and disease, which could lead to better treatments.
CambridgeAges Any age
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.