Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,768 recruiting studies in this area right now.
By phase
- Not applicable2,685
- 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 studies3,768 total
- NCT06261424Recruiting
Exercise program for spastic ataxia types ARSACS and SPG7
This study tests whether a supervised exercise program (including pool exercises) can help people with certain types of hereditary ataxia. The goal is to see if it reduces symptoms like muscle stiffness and coordination problems.
Baie-Saint-Paul, QuebecAges 16 years+ - NCT06261333Enrolling by invitation
Quality of life study for HHT patients
This study looks at how hereditary hemorrhagic telangiectasia (HHT) affects your day-to-day life and well-being. By joining, you'll answer questions to help doctors better understand the impact of the condition.
Essen, North Rhine-WestphaliaAges 18 years+ - NCT06261346Recruiting
Growth factors in corneal transplant surgery
This study tests whether adding a special growth factor solution to the fluid used during corneal transplant surgery helps the transplant heal better. It is for patients undergoing a specific type of corneal transplant called DSEK or DMEK.
Miami, FloridaAges 18–80 - NCT06255886RecruitingPhase 4
Treatment for acid reflux in babies under 1 year
This trial tests a treatment for babies under 1 year old who have frequent and troublesome reflux (GERD). It aims to find a safe and effective way to reduce symptoms like crying, feeding problems, and breathing pauses.
Aabenraa, Region SyddanmarkAges 1 month–1 year - NCT06275022Recruiting
Using ICG dye to guide treatment of facial birthmarks
This study tests whether a special dye called ICG can help doctors treat a type of facial birthmark called capillary lymphatic malformation (cLM) more effectively. It may help by showing the birthmark more clearly during treatment.
Nanjing, JiangsuAges 4 weeks–16 years - NCT06260891RecruitingPhase 2
Zinc study for sickle cell disease and bone health
This study tests if taking zinc supplements can improve bone health in people with sickle cell disease. It's for those with certain types of sickle cell disease (SS or S-Beta zero thalassemia) who are not on chronic transfusions or zinc supplements.
Oakland, CaliforniaAges 15–40 - NCT06259292Recruiting
HHT patient registry tracking long-term outcomes
This registry collects health information from people with HHT over time to better understand the disease and improve care. Joining does not involve any experimental treatment, but your data will help researchers learn more about HHT.
Birmingham, AlabamaAges Any age - NCT06267859Enrolling by invitationEarly Phase 1
Better treatment for common childhood illnesses
This study aims to improve treatment for children with common illnesses like bronchitis and for those who get sick often, to help them recover faster and stay healthier.
Tashkent, Yunus-obad DistrictAges 3 days–15 years - NCT06261502RecruitingPhase 2
CBD for Anxiety in Fragile X Syndrome
This trial tests if cannabidiol (CBD) can help with anxiety and improve brain function in people with Fragile X syndrome. Participants will receive CBD or a placebo, and may have brain scans (MRI) or magnetic stimulation (TMS) to see how it works.
Sherbrooke, QuebecAges 7–40 - NCT06273644Recruiting
Carbohydrate-rich diet for acute intermittent porphyria
This trial tests whether a diet high in carbohydrates can help treat acute intermittent porphyria (AIP), a condition that can cause attacks of pain and other symptoms. If you have AIP, this study wants to see if eating more carbs can prevent or manage attacks.
Bodø, NordlandAges 18 years+ - NCT06273566Recruiting
Validating a questionnaire for adults with cystic fibrosis
This study is checking if a French questionnaire about physical therapy and daily life works well for people with cystic fibrosis. You would answer questions to help doctors better understand your experience.
CaenAges 18–100 - NCT06263075Recruiting
Monitoring during craniosynostosis surgery: comparing newer vs. traditional monitors
This study compares two types of monitors that track your baby's heart and blood flow during surgery to fix craniosynostosis. The goal is to see if a newer monitor works as well as the traditional one.
Bologna, BOAges 3 months–8 months - NCT06270316RecruitingPhase 1/Phase 2
Gene therapy for classic Fabry disease
This trial tests a one-time gene therapy called AMT-191 for men with classic Fabry disease who are still having symptoms despite enzyme replacement therapy. The goal is to see if it can reduce pain and stomach problems and improve overall health.
Birmingham, AlabamaAges 18–65 - NCT06259669Recruiting
Studying eczema cream safety during pregnancy
This study compares the health of mothers and their babies in two groups: women with eczema who used ruxolitinib cream during pregnancy and those who did not. It aims to see if the cream is safe for both mother and child.
Morrisville, North CarolinaAges 15–50 - NCT06262399Enrolling by invitation
Long-term safety check for NTLA-2002 recipients
This study follows people who previously got the experimental drug NTLA-2002 in an Intellia trial. It checks long-term safety and health effects, even if you already stopped treatment.
Campbelltown, New South WalesAges Any age - NCT06270719Enrolling by invitation
Comparing ELEVIDYS to standard care for Duchenne muscular dystrophy
This study compares the gene therapy ELEVIDYS (delandistrogene moxeparvovec) to usual treatments for people with Duchenne muscular dystrophy (DMD). It helps researchers understand how well ELEVIDYS works over time in real-world settings.
Little Rock, ArkansasAges 4 years+ - NCT02781922RecruitingPhase 3
Stem cell infusion for single-ventricle heart failure during surgery
This trial tests whether an infusion of heart stem/progenitor cells can improve outcomes for children with a single working heart chamber (single ventricle) who are scheduled for the next surgical stage (Glenn or Fontan). It may help the heart function after surgery, but participation depends on several heart, lung, brain, and overall health safety criteria.
KanagawaAges birth–6 years - NCT05867979Recruiting
Find hidden DNA changes in some boys with unclear DSD
This trial looks for “structural variants,” meaning larger DNA rearrangements that standard gene tests may miss, in boys with certain differences in sex development (DSD) when results are unclear. It may help provide a clearer diagnosis that can guide care for your family.
MontpellierAges 6 months+ - NCT06238765Recruiting
Adolescent Eczema Drug Safety Registry
This registry tracks the safety and effectiveness of medications used for moderate to severe atopic dermatitis (eczema) in adolescents aged 10 to 15. It helps doctors understand how well these treatments work and what side effects might occur over time.
Waltham, MassachusettsAges 10–15 - NCT06247085RecruitingPhase 3
A study testing pegtibatinase for classical homocystinuria
This trial tests an injectable drug called pegtibatinase for people with a rare condition called homocystinuria. It aims to lower high levels of homocysteine in the blood compared to a placebo, while you continue your usual treatments.
Phoenix, ArizonaAges 12–65 - NCT06244433Recruiting
Genetic testing for sudden infant death
This study looks for gene changes that might be linked to sudden unexpected infant death. It compares the DNA of babies who died suddenly with DNA from their parents, to find possible inherited causes.
Nantes, Loire-AtlantiqueAges Any age - NCT06235580Recruiting
Genetics and immune-brain health study
This study looks at genetic diseases that affect the immune system and the brain. It aims to better understand these conditions by comparing patients, their relatives, and healthy controls.
Paris, Île-de-France RegionAges Any age - NCT06245356RecruitingPhase 2
A safety trial of trifluridine/tipiracil for DPD-deficient patients
This trial tests a chemotherapy drug (trifluridine/tipiracil) in people with metastatic colorectal or gastroesophageal cancer who have a DPD deficiency. DPD deficiency means your body may have trouble breaking down certain chemotherapy drugs, which can lead to serious side effects. This study aims to see if this drug is safe and effective for you.
AmiensAges 18 years+ - NCT06239272RecruitingPhase 1/Phase 2
Personalized treatment for NRSTS in children and young adults
This trial tests a personalized treatment plan for children and young adults with a type of soft tissue sarcoma (NRSTS). It uses a combination of surgery, targeted radiation, and two drugs (pazopanib and selinexor) to fight cancer while reducing side effects. The study is looking for people who have not been treated before for this sarcoma.
Atlanta, GeorgiaAges Up to 30 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,768 recruiting medical genetics studies from the U.S. registry right now, out of 5,496 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.