Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,771
- Phase 2284
- Phase 1235
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis128
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- 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 Cancer Institute (NCI)23
Where studies are running
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT06270316RecruitingPhase 1/Phase 2
Gene therapy for classic Fabry disease
This trial tests a new gene therapy called AMT-191 for men with classic Fabry disease who still have symptoms despite standard enzyme replacement therapy. It aims to see if the treatment is safe and can improve symptoms.
Birmingham, AlabamaAges 18–50 - NCT06271083Recruiting
Online behavior therapy for Tourette syndrome in adults
This trial tests an online behavior therapy program for adults with Tourette syndrome or chronic tic disorder. You'll complete a 10-week internet-based treatment from home, with therapist support, to help reduce your tics.
StockholmAges 18 years+ - NCT06271512Recruiting
Follow-up study for beta-thalassemia patients treated with beti-cel
This study is for people with beta-thalassemia who have already received the gene therapy betibeglogene autotemcel (beti-cel). It collects information to learn how patients are doing after this treatment in real-world settings.
Oakland, CaliforniaAges Any age - NCT06272149RecruitingEarly Phase 1
Gene Therapy for Infants With Type 2 Gaucher Disease
This trial tests a new gene therapy (VGN-R08b) for infants with Type 2 Gaucher disease, a rare genetic condition that affects the brain and body. The goal is to see if the treatment is safe and can help improve symptoms.
Shanghai, Shanghai MunicipalityAges birth–2 years - 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+ - 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 - NCT06274164Recruiting
RAI1 gene disorder study: biomarkers and clinical features
This study looks at people with a rare genetic condition caused by changes in the RAI1 gene. Researchers want to learn more about the condition and find markers that could help with future treatments. You and a healthy family member will spend one day in Houston for tests and samples.
Houston, TexasAges 1 month–80 years - NCT06274840Recruiting
COVID-19 antibodies in cystic fibrosis
This study looks at how the body makes antibodies (proteins that fight infection) against COVID-19 in people with cystic fibrosis. It helps doctors understand how well your immune system responds to the virus or vaccine.
LisbonAges Any age - NCT06275373Recruiting
Teprotumumab for thyroid eye disease study
This study tests if the drug teprotumumab can help with symptoms of thyroid eye disease, such as bulging eyes, pain, or double vision. It is for adults who are beneficiaries of the Department of Defense (DOD).
Bethesda, MarylandAges 18 years+ - NCT06279741RecruitingPhase 1/Phase 2
Cell therapy to prevent lung disease in very premature babies
This study tests whether a special cell therapy (MSC-EVs) given to extremely premature babies can help prevent a serious lung disease called bronchopulmonary dysplasia (BPD). The treatment is given while the baby is still on a breathing machine.
BrusselsAges Up to 1 week - NCT06281067Recruiting
Personalized medicine for heart muscle bridges
This trial aims to better understand and treat a condition called a myocardial bridge, where a heart artery tunnels through the heart muscle instead of sitting on top. It tests whether a more personalized approach, using special medications during heart catheterization, can improve care for people with symptoms like chest pain or shortness of breath.
Acquaviva delle FontiAges 18–75 - NCT06284434RecruitingPhase 3
EXPAREL for pain after cleft gum repair
This trial tests if a long-lasting numbing medicine (EXPAREL) can help control pain after surgery to repair the gum in children and adults with cleft lip or palate. It may mean less discomfort after the procedure.
Chicago, IllinoisAges 6 years+ - NCT06284577Recruiting
Quality of life and gut health in children with cystic fibrosis
This study looks at how a drug called ETI (a combination of three medicines) affects the quality of life and gut health of children with cystic fibrosis. If you or your child has the right type of CF and is between 2 and 18 years old, this trial may help us understand how treatment improves daily life and digestion.
OsloAges 2–18 - NCT06285539RecruitingPhase 2
Testing a drug for rare inflammatory diseases
This trial is testing a new drug (a JAK inhibitor) for people with rare inflammatory diseases like Behçet's, myositis, or IgG4-related disease that hasn't improved with standard treatments. The goal is to see if it can help control symptoms and reduce inflammation.
AmsterdamAges 18–65 - NCT06287541Recruiting
Do you need a second bladder surgery after a negative urine test?
This study looks at whether a second bladder surgery is still needed for people with high-risk bladder cancer who had a negative urine test after their first surgery.
Nanjing, JiangsuAges 18 years+ - NCT06287762Recruiting
Natural history study of RYR1-related disorders
This study follows people with RYR1-related disorders over time to learn how the condition progresses. It may help researchers plan future treatments.
Bethesda, MarylandAges 7–100 - NCT06289348Recruiting
How is PKU announced to families after newborn screening?
This study talks to parents or doctors about how they first learned their child had PKU through newborn screening. It aims to improve how these rare metabolic diseases are communicated to families.
ParisAges 18 years+ - NCT06290713RecruitingPhase 2
Blood flow and exercise study for Duchenne muscular dystrophy
This trial tests if a medicine that improves blood flow, combined with exercise, can help muscles in boys with Duchenne muscular dystrophy. It is for boys who can still walk and are on a stable steroid medication.
Gainesville, FloridaAges 6 years+ - NCT06290401Recruiting
Boosting self-management in teens with sickle cell disease
This study is testing a program to help adolescents with sickle cell disease better manage their health. It looks at how family, friends, and the clinic can support teens to take charge of their care.
Wilmington, DelawareAges 13–21 - NCT06291935RecruitingPhase 1
Gene therapy trial for retinitis pigmentosa with CNGA1 mutation
This trial tests a new gene therapy called VG901, given as an injection into the eye, for people with retinitis pigmentosa caused by a specific genetic change in the CNGA1 gene. The goal is to see if it is safe and tolerable.
TübingenAges 18 years+ - NCT06292650RecruitingEarly Phase 1
Gene therapy ZM-02 for advanced retinitis pigmentosa
This experimental gene therapy (ZM-02) is designed for people with advanced retinitis pigmentosa who have very poor vision (counting fingers or worse). It aims to see if the treatment is safe and can improve vision by replacing a faulty gene in the retina.
Beijing, Beijing MunicipalityAges 18–65 - NCT06293560Recruiting
Genetic study of rare eye conditions in children
This study looks at the genetic causes of rare eye conditions (microphthalmia, anophthalmia, and coloboma). It helps researchers understand why these conditions happen and how they run in families.
Houston, TexasAges Any age - NCT06294990RecruitingPhase 4
Testosterone treatment for boys with Klinefelter syndrome in puberty
This trial tests if starting testosterone treatment during puberty (ages 10-14) helps boys with Klinefelter syndrome. It aims to understand how the hormone affects development and well-being.
CopenhagenAges 10–14 - NCT06296394Recruiting
Health outcomes for new parents with cystic fibrosis
This study looks at the health of parents with cystic fibrosis who have recently become a first-time parent to a young child. It aims to understand how parenting affects their health.
Birmingham, AlabamaAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,764 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.