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
- NCT07169279RecruitingPhase 2
Study of infigratinib for children under 3 with achondroplasia
This trial tests an oral medication called infigratinib to see if it can help young children with achondroplasia. It is for children under 3 years old who have a confirmed genetic diagnosis.
Oakland, CaliforniaAges birth–2.7 years - NCT05250284Recruiting
Study of cancer care support for working men’s well-being
This study looks at how cancer treatment care affects the well-being of working men during the first months after diagnosis. It may help identify ways to support you while you continue working or plan to return to work.
Aurora, ColoradoAges 21–70 - NCT07288437Recruiting
Deep brain stimulation for SCA6 ataxia
This study tests if deep brain stimulation (putting a device in the brain to send mild electrical pulses) can improve balance and movement in people with spinocerebellar ataxia type 6 (SCA6), a genetic condition that causes trouble walking and coordination.
San Francisco, CaliforniaAges 21–89 - NCT07599176RecruitingPhase 1/Phase 2
Partial stem cell transplant for sickle cell disease from matched donors
This study tests a partial stem cell transplant from a matched donor to treat sickle cell disease. It may help reduce complications like strokes, organ damage, or pain crises.
Bethesda, MarylandAges 4–65 - NCT07274254RecruitingPhase 3
Lidocaine to reduce opioid use for sickle cell pain crisis
This trial tests if adding lidocaine to standard pain treatment can reduce the amount of morphine or oxycodone needed for a severe pain crisis or acute chest syndrome in sickle cell disease. It is for adults in the ICU who have already started opioid treatment within the last 72 hours.
BordeauxAges 18 years+ - NCT04934462Recruiting
Non-surgical or arthroscopic treatment for hip microinstability
This study looks at treatment options that may help people with “hip microinstability,” where the hip can feel unstable or not sit perfectly. Researchers will compare non-surgical care and a minimally invasive surgery option to see what works best and why it helps.
GothenburgAges 18 years+ - NCT04935918Recruiting
Adjustable bladder balloon treatment for urinary leakage
This trial studies how safe and effective adjustable balloons in the bladder are for children and teens with bladder exstrophy or isolated epispadias who have urine leakage. It may help reduce incontinence while monitoring bladder and kidney safety.
Marseille, PACAAges 5–18 - NCT04936074Recruiting
Fusion vs no fusion after neck cord decompression
This trial compares two surgery approaches for people with a gradually worsening spinal cord problem in the neck: doing fusion (joining bones together) versus not doing fusion after decompression (making more space for the spinal cord). It aims to see which approach works better and is safer for symptoms and recovery.
UppsalaAges 18 years+ - NCT04936854RecruitingPhase 2
Sirolimus or steroid drops for active Graves eye disease
This Phase 2 study compares sirolimus versus corticosteroids to treat active thyroid eye disease. It aims to see which treatment works better to calm eye inflammation and improve symptoms, without needing urgent eye surgery.
Bergen, HordalandAges 18–80 - NCT04939571Recruiting
Registry for babies with retinopathy of prematurity
This study is a European registry that collects medical information (stored electronically) about babies who have retinopathy of prematurity (ROP) severe enough to need treatment. It may help doctors understand outcomes and improve care by tracking real-world results.
SalzburgAges Any age - NCT04939935RecruitingPhase 3
Metformin to slow kidney decline in adults with polycystic kidneys
This Phase 3 study tests whether taking metformin can slow the decline of kidney function in adults with autosomal dominant polycystic kidney disease (ADPKD). You may be eligible if you have ADPKD and signs that your kidneys are starting to decline faster than expected.
Gosford, New South WalesAges 18–70 - NCT04944940Recruiting
Study tests blood, scans, and genes in SBMA and healthy men
This study looks for early “biomarkers” (measurable signs) in the body using blood tests, imaging scans, and sometimes other procedures in men with genetically confirmed spinal and bulbar muscular atrophy (SBMA). The results may help future drug studies by showing better ways to track disease changes over time.
Bethesda, MarylandAges 18–120 - NCT04947813Recruiting
Study links Alport genetics to kidney symptoms
This study looks at how specific genetic changes (genotypes) relate to kidney problems and urine blood findings in people with Alport syndrome. It may help doctors predict disease course and tailor care, though it may not involve new treatment.
ShanghaiAges Any age - NCT04948658Recruiting
Freezing ovarian tissue to protect future fertility
This study looks at storing ovarian (ovary) tissue by freezing it for people at higher risk of losing fertility. It may help preserve options for having biological children later, especially for certain genetic conditions, cancer-related risks, or planned gonad removal.
Bethesda, MarylandAges 2–35 - NCT04962867RecruitingPhase 2
Targeting FGFR changes in advanced, hard-to-treat cancers
This Phase 2 study tests a treatment aimed at specific FGFR (a cancer-growth signal) changes found in your tumor. It may help people whose cancer has spread, cannot be removed, or has stopped responding to standard treatment.
Chuo-ku, Tokyo, JapanAges 20 years+ - NCT04965545Recruiting
Tests for diagnosing Wilson disease using special lab findings
This trial is for people who already have a genetic diagnosis of Wilson disease. It looks at whether specific lab tests and a physical eye finding can help confirm and support the diagnosis.
Hangzhou, ZhejiangAges 6–65 - NCT04968990RecruitingPhase 2
New Wilms tumor treated with proton beam abdominal radiation
This trial studies a specific type of radiation (proton beam) given to the abdomen after surgery and/or chemotherapy in children and young people with newly diagnosed Wilms tumor. The goal is to improve cancer control while carefully targeting radiation to the right stage of disease.
Memphis, TennesseeAges Any age - NCT04969926Recruiting
Study of parathyroid problems in children and adults
This is an observational study that follows people who have or may develop parathyroid-related conditions. The goal is to better understand how these problems change over time and what patterns show up, which can help improve future care.
Bethesda, MarylandAges 6 months–100 years - NCT04970459Recruiting
Collecting samples for Marfan and related conditions
This study collects biological samples and related health information for people with Marfan syndrome or similar inherited conditions. It helps researchers better understand these conditions and may lead to improved care for patients in the future.
ToulouseAges 3–99 - NCT04976036RecruitingPhase 2
Nintedanib to reduce nosebleeds in adults with HHT
This trial tests whether nintedanib can reduce how often and how severe nosebleeds are in adults with hereditary hemorrhagic telangiectasia (HHT). It may help by calming blood-vessel problems that cause bleeding.
BronAges 18 years+ - NCT04980638RecruitingPhase 2
Check ER004 given in the womb for a genetic tooth-skin disorder
This Phase 2 study tests ER004 put into the amniotic fluid during pregnancy to treat male babies with X-linked hypohidrotic ectodermal dysplasia (XLHED). It also looks at effects in affected male relatives with the same gene change.
Los Angeles, CaliforniaAges 18 years+ - NCT04982744Recruiting
Li-Fraumeni and related syndrome patient registry
This is a research registry that collects information from people who have Li-Fraumeni or similar inherited cancer syndromes. It helps doctors better understand these conditions and improve future care.
Bologna, Emilia-RomagnaAges Any age - NCT04990297Recruiting
MRI test to better predict risk in dilated heart muscle
This trial uses a heart MRI to measure details in people with dilated cardiomyopathy and reduced pumping strength. It aims to use these MRI findings to better predict your future heart risk and guide care.
Beijing, Beijing MunicipalityAges Any age - NCT04995341Recruiting
School-age follow-up study for premature babies’ eye health
This study looks at eye structure in children who were in an earlier premature-baby eye study and are now around 4.5–5 years old. It may help researchers better understand how eye disease in prematurity develops and how to monitor it.
Durham, North CarolinaAges Any age
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.