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 applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- 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
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT02879071Recruiting
Follow-up after blocking abnormal brain blood vessels
This study checks people long-term after a procedure called embolization, which blocks abnormal blood vessel connections in the brain (arteriovenous malformations). It may help doctors learn how well the treatment lasts over time and what outcomes to expect.
ParisAges 18 years+ - NCT02208869Recruiting
Registry for inherited high cholesterol (familial hypercholesterolemia)
This registry collects information from people with inherited high cholesterol to better understand the condition and care needs. You may be invited to share blood and medical test results, especially your cholesterol and related health history.
ChelyabinskAges 7–80 - NCT02399527Recruiting
Lymphatic problem registry for tracking outcomes
This study enrolls people with certain lymphatic (lymph fluid) conditions to collect information and track how they do over time. It may help doctors better understand outcomes and improve care.
Boston, MassachusettsAges Any age - NCT02852928Recruiting
ChILD-EU registry for childhood lung disease samples
This trial builds a European “registry and biobank” of children with suspected or confirmed interstitial lung disease (a type of lung problem), as well as conditions that can look similar. It helps researchers learn more about these rare childhood lung diseases and connect families to future studies.
Hanover, Lower SaxonyAges Any age - NCT02530983Recruiting
Survey study for people after esophagus surgery
This study is a survey. It asks people about their experiences after esophagus surgery (either removing part of the esophagus or rebuilding it). It may help doctors understand what happens to patients over time and improve future care.
Rochester, MinnesotaAges 18 years+ - NCT02714764Recruiting
Testing how best to measure outcomes in Alexander disease
This study is looking at which measurements best capture changes over time in people with Alexander disease. It may help researchers and doctors track the disease more accurately in future care and studies.
Philadelphia, PennsylvaniaAges Any age - NCT02329210Recruiting
Registry study for people with Bardet-Biedl syndrome
This study is a registry that collects health and genetic information from people with Bardet-Biedl syndrome. It may help researchers better understand the condition and improve future care by building a clear group of eligible patients.
Marshfield, WisconsinAges Any age - NCT02683512Recruiting
Study of GBE deficiency in GSD IV and APBD
This study follows people with GBE deficiency caused by GSD IV or APBD to better understand how the condition works over time. It may help researchers and clinicians plan future care and treatments.
Durham, North CarolinaAges birth–90 years - NCT02270476Recruiting
Study of how cystic fibrosis lung disease changes over time
This observational study follows children newly diagnosed with cystic fibrosis to understand how their lung disease develops. It may help doctors better predict disease course and choose the right timing for care.
Heidelberg, Baden-WurttembergAges Any age - NCT02103361Recruiting
Pregnancy registry for Stelara or Tremfya exposure
This study is a pregnancy exposure registry. It collects information to better understand pregnancy outcomes after exposure to Stelara or Tremfya (medicines used for autoimmune diseases).
La Jolla, CaliforniaAges Any age - NCT02237625Recruiting
Study tracking patients with hypophosphatasia over time
This study follows people who already have hypophosphatasia (HPP) to better understand how the condition changes over time. It may help doctors recognize patterns and improve care, even if you are not receiving a new treatment.
Durham, North CarolinaAges Any age - NCT02417740Recruiting
Study of the natural course of noncirrhotic portal hypertension
This study follows people with noncirrhotic portal hypertension (NCPH) or people at risk for it to better understand how the condition progresses over time. It does not sound like a medication trial—more like careful monitoring to learn what happens in different people.
Bethesda, MarylandAges 12–100 - NCT02440763Recruiting
Study of inherited progressive balance and coordination changes
This is a natural history study that follows people with inherited forms of “ataxia” (problems with balance and coordination) over time. It may help researchers better understand how these conditions progress in daily life and can inform future treatments.
InnsbruckAges 18 years+ - NCT02740868RecruitingPhase 2
Breathing MRI using xenon gas to study lungs
This trial uses a special breathing MRI (you breathe a gas mixture) to measure how well your lungs work. It studies healthy kids and people with lung conditions like cystic fibrosis or asthma, and it may help researchers better understand lung function and flare-ups.
Toronto, OntarioAges 8 years+ - NCT02798705Recruiting
Testing heart tiny blood vessel function in amyloidosis
This study measures how well the heart’s tiny blood vessels work in people with cardiac amyloidosis, using special heart testing. It may help doctors understand the disease better and improve how patients are evaluated over time.
SeoulAges 18–85 - NCT02395497RecruitingPhase 2/Phase 3
Penile transplant trial using immune-suppressing medicines
This study tests whether a donated penis can be successfully transplanted using medicines that calm the immune system to prevent rejection. It also looks at safety and recovery of function in men with severe penile loss from injury, cancer surgery, or birth conditions.
Baltimore, MarylandAges 18–69 - NCT02118922Recruiting
Testing a light-scanning eye exam to diagnose corneal thinning
This study tests whether a special “Brillouin” microscope scan can spot corneal ectasia and related cornea conditions. It may help doctors diagnose problems earlier and better sort out who needs closer eye care.
Boston, MassachusettsAges 20–75 - NCT02432092Recruiting
Genetic testing for heart muscle disease in children and families
This study looks at genetic (DNA) changes that may cause cardiomyopathy, a disease where the heart muscle is weakened. It may help families understand possible causes and inform future care.
Indianapolis, IndianaAges Any age - NCT02119611Recruiting
Deep brain stimulation for Parkinson’s, dystonia, or tremor
This study tests deep brain stimulation (DBS), a therapy that sends electrical signals to the brain, for movement problems like Parkinson’s disease, dystonia, and essential tremor. It may help people whose symptoms are not controlled enough with medications, or who already have a DBS device and need ongoing management.
Bethesda, MarylandAges 18–100 - NCT02207894Recruiting
Survey of removing inhibitors in hemophilia A treatment
This study collects real-world information on how well a personalized clotting-factor plan helps people with hemophilia A get rid of inhibitors. It may help doctors refine treatment for patients who develop antibodies that block factor therapy.
Frankfurt am Main, HesseAges Any age - NCT02542683Recruiting
Physical activity program to support children’s brain development
This study looks at whether a structured physical activity program can support thinking and brain development in children around age 2–5. Your child may be eligible if they are having certain surgeries or fit a matched “control” group and do not have specific neurologic or heart-related issues.
New York, New YorkAges 2.5 years–6 years - NCT02774746Recruiting
Study of delivery outcomes in babies with gastroschisis
This study follows pregnancies and newborn outcomes for babies diagnosed with gastroschisis (an opening in the baby’s belly present before birth). It aims to understand what delivery and early care lead to better outcomes for these babies.
Phoenix, ArizonaAges 18 years+ - NCT02450851Recruiting
Find answers for undiagnosed medical conditions using genetic testing
This study helps look for causes of health problems when no one has been able to give a diagnosis. It tests and shares medical and genetic information (with privacy protections) so researchers can better match findings to possible causes.
Birmingham, AlabamaAges 1 month–100 years - NCT02435940Recruiting
Registry for inherited eye vision conditions
This study is a registry, meaning it collects information about people with inherited retinal (retina) diseases. It may help researchers learn how these conditions progress and connect you with future studies or treatments.
Columbia, MarylandAges Any age
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 5,795 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.