Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,756 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2277
- Phase 1238
- Phase 3210
- Phase 1/Phase 2208
- Phase 497
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis125
- Congenital Heart Disease84
- Cystic Fibrosis76
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy37
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)28
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
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
- Massachusetts General Hospital22
Where studies are running
- California325
- Maryland161
- Alabama133
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania62
- Florida59
Recruiting studies3,756 total
- NCT03398629Recruiting
Study of babies with slow growth or birth defects
This trial looks at how to diagnose and manage pregnancies and babies affected by slow growth before birth, birth defects, or chromosome-related conditions. It may help by improving how doctors confirm problems and plan care for mothers and newborns.
Guangzhou, GuangdongAges Up to 18 years - NCT03048266Recruiting
Testing genes and blood chemistry in MEN1 pancreatic tumors
This study looks at blood chemistry (metabolomics) and genetic information in people who have MEN1, especially if they are being evaluated for pancreatic neuroendocrine tumors. It may help doctors better diagnose these tumors by finding patterns in test results.
Houston, TexasAges Any age - 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 - NCT04076449Recruiting
MRI measurements for epilepsy from a single brain blood vessel lump
This study uses special MRI scans to measure brain changes in people whose seizures are related to one cerebral cavernous malformation (a type of abnormal blood vessel in the brain). It aims to find a measurable “biomarker” from MRI that may help understand the epilepsy and the brain structure around it.
Beijing, Beijing MunicipalityAges 18–70 - NCT04084132Recruiting
Testing earlier vs later valve replacement after repaired Tetralogy
This study compares doing a valve replacement earlier versus later in people born with Tetralogy of Fallot who already had heart surgery as babies. It may help decide the safest timing to protect heart function, especially right-sided pumping and valve leakage.
AarhusAges 12 years+ - NCT03856034Recruiting
Open vs minimally invasive surgery for spina bifida baby
This study compares two ways to correct spina bifida while the baby is still in the womb: an open operation (laparotomy) versus a minimally invasive endoscopic approach (percutaneous endoscopic). The goal is to see which approach leads to better outcomes for the baby and pregnancy.
Los Angeles, CaliforniaAges 18 years+ - NCT03626480Recruiting
Nutrition support before and after heart surgery for babies
This trial studies a nutrition plan given around the time of heart surgery for babies with congenital heart disease. It may help improve how babies grow and recover by supporting feeding before and after the operation.
Hangzhou, ZhejiangAges 1 day–1 year - NCT03526159RecruitingPhase 1/Phase 2
Gentamicin treatment for certain skin blistering disease
This trial tests gentamicin, an antibiotic, for junctional epidermolysis bullosa (JEB) caused by a specific kind of genetic change in the LAMB3 gene. It may help some people with this exact mutation, but you must meet several safety and genetic requirements to join.
Los Angeles, CaliforniaAges 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 - NCT04665726Recruiting
Natural history study of Usher syndrome hearing and vision changes
This study follows people with Usher syndrome over time to better understand how hearing and vision symptoms change. It may help researchers measure disease progression and support future treatments.
ParisAges Any age - NCT04781790Recruiting
Registry for bone marrow failure patients
This study is a national registry that collects health information and some blood or tissue samples from people diagnosed with bone marrow failure. It helps researchers understand causes and long-term outcomes, and may improve care by building a large patient database.
ParisAges Any age - NCT01604395Recruiting
Long-term growth hormone check for children with short stature
This study follows children who are short for their age and checks how safe and effective growth hormone is over the long term. It may help families understand expected benefits and side effects for their specific growth-related condition.
SeoulAges 2 years+ - 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+ - NCT04827498Recruiting
Testing heart blood-flow problems without clogged arteries
This study looks at how well the heart’s blood vessels work in people who have symptoms of reduced blood flow but no major artery blockage. It uses special heart tests with medicines to check how the vessels respond and may help guide better diagnosis and treatment.
MadridAges 18 years+ - NCT03981276Recruiting
Study aims to understand inherited walking stiffness disorders
This study looks at the causes and biology (“biomarkers”) of hereditary spastic paraplegias and related conditions. You may join as someone with the condition, a family member without symptoms, or a healthy person, to help researchers understand what’s happening in the nervous system.
InnsbruckAges Any age - NCT04917887Recruiting
Gene therapy long-term follow-up for Krystal Biotech patients
This study follows people who previously received a gene therapy from Krystal Biotech to better understand long-term safety and outcomes. If you already had their gene therapy before and you can keep follow-up appointments, you may be able to join.
Rancho Santa Margarita, CaliforniaAges 6 months+ - 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 - 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 - 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 - NCT03249337RecruitingPhase 4
Ripasudil drops before Descemet stripping surgery in Fuchs disease
This trial tests whether Glanatec (ripasudil) eye drops help patients with Fuchs endothelial dystrophy get better results from Descemet stripping surgery. It may help improve vision and reduce symptoms for people whose vision problems come mainly from the Fuchs changes in the cornea.
Glenview, IllinoisAges 18–91 - NCT01403402Recruiting
Study of congenital muscle disease patients and their families
This trial collects health information from patients with certain inherited (genetic) muscle diseases and from their families. It may help researchers better understand the disease and improve care by learning what symptoms and treatments patients experience over time.
Lakewood, CaliforniaAges Any age - NCT04461444Recruiting
Cohort study for Bardet-Biedl and Alström syndromes
This study follows people with Bardet-Biedl syndrome (BBS) or Alström syndrome (ALMS) to spot early vision, metabolic (body chemistry/energy), and kidney problems. You may be asked to have clinical checks over time to help researchers better understand how these complications develop.
StrasbourgAges 4 months+ - NCT05101304Recruiting
European registry for people with amyloidosis
This study collects health information from people who may have amyloidosis or who already have a confirmed diagnosis. It aims to better understand amyloidosis in real-world care across European centers, which can help future patients and treatments.
CréteilAges Any age - NCT05100693Recruiting
FETO balloon removal during pregnancy for diaphragm hernia
This trial studies “smart removal” of a balloon placed in the womb to treat a baby’s congenital diaphragmatic hernia (CDH). It aims to see if removing the balloon in a planned, safer way can improve outcomes for the baby and keep mothers safe.
LeuvenAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,756 recruiting medical genetics studies from the U.S. registry right now, out of 5,439 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.