Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- 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
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT07701759Recruiting
Oxygen levels during eye injections for premature babies
This study looks at how often low oxygen levels happen in premature babies when they get eye injections for a serious eye condition. The goal is to understand the risks and make the procedure safer.
BuraidahAges Any age - NCT06902896RecruitingPhase 1/Phase 2
FAP iCDC therapy for advanced heart failure from dilated cardiomyopathy
This trial tests a new treatment called FAP iCDC for people with end-stage dilated cardiomyopathy, a type of heart muscle disease. It aims to see if this therapy is safe and helps improve heart function when standard medicines are no longer enough.
Hangzhou, ZhejiangAges 18–75 - NCT07700966Recruiting
Long-term safety registry for EB treatment
This study follows patients who have already received a gene therapy treatment called prademagene zamikeracel for a severe skin condition called recessive dystrophic epidermolysis bullosa (RDEB). The goal is to track long-term safety and health outcomes after treatment.
Palo Alto, CaliforniaAges Any age - NCT07703020Enrolling by invitation
Obesity in PKU patients
This study looks at how common obesity is in adults with PKU and what factors may contribute to it.
Lausanne, Canton of VaudAges 18 years+ - NCT07008989Recruiting
Phone app to improve memory in Down syndrome
This study tests a smartphone app called HippoCamera to see if it can help teenagers and young adults with Down syndrome remember everyday events better. You would use the app at home with some help from a parent or guardian.
Chestnut Hill, MassachusettsAges 15–35 - NCT07564882Recruiting
Music and Mobile Apps to Help Babies With Heart Surgery Pain
This study tests whether music and a mobile app can help reduce pain and stress in babies aged 2–12 months who have had heart surgery. Researchers will measure pain levels and vital signs like heart rate and breathing.
AnkaraAges 2 months–1 year - NCT07622368RecruitingPhase 1
Testing IBI3031 for Active Thyroid Eye Disease
This early-stage trial tests a new drug called IBI3031 to treat active thyroid eye disease (TED), a condition where the immune system attacks muscles and tissue around the eyes, causing swelling, bulging, and sometimes double vision. The study aims to see if this drug can reduce inflammation and improve symptoms.
Shenyang, LiaoningAges 18–75 - NCT05640271RecruitingPhase 2
Tocilizumab for acute chest syndrome in sickle cell
This trial studies tocilizumab (a medicine that calms inflammation) to treat acute chest syndrome in people with sickle cell disease. It may help improve symptoms and recovery by targeting key immune signals involved in this complication.
Chicago, IllinoisAges 12 years+ - NCT05854433Enrolling by invitation
Study brain structure in adults with muscle weakness
This study uses scans and other tests to understand how brain structure relates to symptoms in people with myotonic dystrophy type 1 or type 2. It may help researchers connect measurable brain changes to movement and other clinical outcomes.
Winston-Salem, North CarolinaAges 30–65 - NCT04494945Recruiting
Help for people with inherited cancer risk genes
This study helps identify people who may have an inherited cancer risk and checks how best to support them. Depending on the group, you may only fill out surveys, or you may also create an app account and possibly provide a DNA sample.
Portland, OregonAges 18 years+ - NCT05869825Recruiting
Breathing support after extubation in babies after heart surgery
This trial compares two ways of helping babies breathe after their breathing tube is removed following heart surgery. It may help find which support method works better and is safer for the smallest patients.
Atlanta, GeorgiaAges Up to 1 year - NCT04010188Recruiting
Study comparing people with Charcot-Marie-Tooth and healthy controls
This study follows people who have Charcot-Marie-Tooth disease (CMT) and compares them with people without it. It aims to better understand CMT, using both clinical symptoms and genetic test results, which may help future care.
FuzhouAges Any age - NCT04012671Recruiting
Study of Duchenne muscular dystrophy in children and carriers
This is a research study that follows people with Duchenne muscular dystrophy and female genetic carriers to better understand the condition. It may help researchers measure health patterns over time, which can support future treatments.
FuzhouAges 2 years+ - NCT04012411Recruiting
Testing brain fluid biomarkers in Huntington’s disease
This study looks at specific “biomarkers” (measurable signs) found in cerebrospinal fluid, to better understand Huntington’s disease. The results may help researchers track the disease and improve future tests or treatments.
MontpellierAges 18 years+ - NCT04012658Recruiting
Study of people with Wilson disease genes and family members
This study follows people who have the genetic cause of Wilson disease, including people who feel well and family members. Researchers want to better understand Wilson disease and what to watch for over time.
FuzhouAges Any age - NCT04023019Recruiting
Hemophilia A trial for people with FVIII inhibitors
This trial studies a treatment approach for people with hemophilia A who develop antibodies (inhibitors) that block clotting factor FVIII. It may help those whose usual FVIII therapy is not working because of these inhibitors.
Atlanta, GeorgiaAges Any age - NCT04026360Recruiting
Study early lung, virus, and gut changes in children with cystic fibrosis
This study looks at how a child’s early lung function, viral infections, and gut (microbiome) changes affect cystic fibrosis over time. It may help doctors understand what predicts how lung disease develops, which could improve future care.
BernAges birth–18 years - NCT04038502RecruitingPhase 2
Testing carboplatin or olaparib for gene-linked prostate cancer
This Phase 2 study tests whether carboplatin or olaparib can help people with prostate cancer that has certain DNA repair gene changes. It’s designed for advanced (metastatic) prostate cancer that is growing despite standard hormone-blocking treatment.
West Los Angeles, CaliforniaAges 18 years+ - NCT04039061Recruiting
Study registry for people with ADPKD
This trial is a patient registry that collects information from people who have—or might have—autosomal dominant polycystic kidney disease (ADPKD). It may help researchers better understand the condition and improve future studies.
Kansas City, MissouriAges Any age - NCT04041583Recruiting
Cervical spine fusion using spacers to support healing and function
This study looks at how well a specific neck surgery (posterior cervical fusion using added spacers) works for people with long-standing, non-traumatic neck wear-and-tear problems. It will track outcomes using symptoms and imaging to see if the surgery improves function and healing.
Columbus, OhioAges 18 years+ - NCT04055818RecruitingPhase 1
Testing three medicines for high-risk sickle cell disease
This Phase 1 study tests whether nicotinamide, oral tetrahydrouridine, and decitabine can help people with high-risk sickle cell disease. It is mainly a safety-and-dosing study, but it also looks for signs the medicines may improve disease-related problems.
Chicago, IllinoisAges 18 years+ - NCT04064060RecruitingPhase 3
Long-term safety follow-up for luspatercept study participants
This trial studies the long-term safety of luspatercept (ACE-536) in people who already took part in an earlier luspatercept study. It mainly helps doctors better understand ongoing side effects and overall safety over time.
Los Angeles, CaliforniaAges 18 years+ - NCT04073797Recruiting
PET scan study of inflammation and cholesterol-lowering treatment
This study uses PET/CT and related scans to measure inflammation in artery plaque and how cholesterol-lowering treatment changes it. It may help researchers understand which treatments reduce artery inflammation for people with heart or blood-vessel disease and high LDL (“bad”) cholesterol.
CambridgeAges 18–99 - NCT04074135RecruitingPhase 2
Study of pancreatic tumors in people with VHL
This trial studies the natural course and management of pancreatic neuroendocrine tumors in people with von Hippel–Lindau (VHL) disease. It may help doctors better predict how these pancreatic findings change over time and how to manage them.
Bethesda, MarylandAges 12 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.