Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,767 recruiting studies in this area right now.
By phase
- Not applicable2,684
- Phase 2280
- Phase 1241
- Phase 3210
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)38
- Duchenne Muscular Dystrophy36
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)29
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
- Children's Hospital of Philadelphia23
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
Where studies are running
- California324
- Maryland160
- Alabama133
- Massachusetts108
- Arizona87
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,767 total
- NCT04678011Recruiting
Personalized follow-up to prevent cancer after FAP surgery
This trial studies a tailored plan for surveillance (check-ups) and interventions to find and remove new growths early in people with familial adenomatous polyposis (FAP) after bowel surgery. It may help lower the chance of cancer by closely monitoring and treating polyps when they appear.
Houston, TexasAges 18 years+ - NCT04644016RecruitingPhase 2
Cord blood transplant for children and young adults with blood cancers
This Phase 2 trial studies using a cord blood transplant after finding it is risky enough that standard treatment may not be sufficient. It may help certain children and young adults with specific leukemia, lymphoma, and some non-cancer blood/immune or inherited disorders who do not have a well-matched donor available in time.
New York, New YorkAges Up to 21 years - NCT04626167RecruitingEarly Phase 1
Testing a bladder transplant done with a kidney transplant
This early-phase study is testing a combined bladder and kidney transplant approach for people whose bladder problems damage the kidneys. The goal is to see if this treatment can improve bladder and kidney outcomes and be done safely.
Rochester, MinnesotaAges 1–60 - NCT04671212Recruiting
Using discarded bone marrow from certain orthopedic surgeries
This study looks at bone marrow cells that would otherwise be discarded during some orthopedic surgeries. It may help researchers learn more about specific blood disorders (certain types of thalassemia and sickle cell–related conditions).
Memphis, TennesseeAges Any age - NCT04635891Recruiting
Study motor function tests in FSHD
This trial studies how well certain physical/movement tests work in people with facioscapulohumeral muscular dystrophy (FSHD). It may help clinicians measure changes more accurately and tailor care over time.
Los Angeles, CaliforniaAges Any age - NCT04681781Enrolling by invitation
Remote study of SLC13A5 deficiency history
This study follows people with SLC13A5 deficiency to better understand how the condition changes over time, using surveys and clinical check-ins done remotely. If you (or your child) have this genetic condition, it may help researchers learn what symptoms to expect and how to track them.
Palo Alto, CaliforniaAges Any age - NCT04677998Recruiting
Personalized monitoring and treatment plan for stomach polyps
This trial tests a personalized plan for regularly checking and treating stomach and first-part of intestine polyps in people with familial adenomatous polyposis (FAP). It may help by catching problems early and choosing the right intervention at the right time.
Houston, TexasAges 18 years+ - NCT04675749Recruiting
Quality of life study in adult women with X-ALD
This study looks at quality of life in adult women who have X-linked adrenoleukodystrophy (X-ALD). It may help researchers understand how this condition affects daily life and well-being.
Leipzig, SaxonyAges 18 years+ - NCT04645199Recruiting
Long-term follow-up study for blood and bone marrow diseases
This study is collecting long-term follow-up information from people diagnosed with certain blood and bone marrow conditions. It may help doctors understand what happens over time and improve future care, but you’re mainly contributing data rather than receiving a new treatment.
Tianjin, Tianjin MunicipalityAges Any age - NCT04639336Recruiting
Pompe disease study of brain and nerve effects
This study looks at how Pompe disease affects the brain and nervous system. You may be able to join if you have a confirmed diagnosis of infantile or late-onset Pompe disease and agree to participate.
Durham, North CarolinaAges birth–18 years - NCT04676828Recruiting
SPECT-guided radiation to avoid healthy lung in lung cancer
This study tests a special imaging-guided radiation plan that aims to treat lung cancer while reducing radiation to healthy lung tissue. It may help lower lung side effects while keeping the cancer treatment focused on tumor areas.
Sydney, New South WalesAges 18 years+ - NCT04642729Enrolling by invitation
Fresh cornea lenticule implant for macular corneal dystrophy
This trial tests a new way to treat macular corneal dystrophy using a thin piece of clear cornea (a lenticule) from a donor. Instead of a full transplant, the surgeon uses a laser (RELEX SMILE) to insert this lenticule to improve vision.
PristinaAges 20–55 - NCT04624490RecruitingPhase 1
Lung function MRI using a special gas in volunteers
This Phase 1 study tests a lung scan that uses a special gas and MRI to measure how well your lungs work. It includes healthy volunteers and people with lung disease to see how well the scan works and how safe it is.
Kansas City, KansasAges 3 years+ - NCT04645862Recruiting
4D heart scan for people with a bicuspid aortic valve
This study uses a special 4D heart scan to learn how well your bicuspid aortic valve works. It may help doctors better understand valve function and plan care, but the scan involves imaging contrast in some cases.
Philadelphia, PennsylvaniaAges 18 years+ - NCT04667494RecruitingPhase 4
Ultrasound treatment for heart amyloidosis
This trial studies whether ultrasound therapy can help people with amyloidosis that affects the heart. It’s aimed at improving heart-related outcomes in AL or transthyretin (ATTR) cardiac amyloidosis.
Boston, MassachusettsAges 18–90 - NCT04528355Recruiting
Study of hospital data after stem cell transplant for non-cancer illness
This study collects medical information from people with certain non-cancer conditions who receive a stem cell transplant. It may help doctors better understand transplant outcomes and care, since the study focuses on data collection rather than adding new treatment.
Pittsburgh, PennsylvaniaAges 2 months–60 years - NCT04546399RecruitingPhase 2
Blinatumomab with or without nivolumab for first relapse ALL
This study compares blinatumomab alone versus blinatumomab plus nivolumab in young people whose B-cell ALL has returned for the first time. It aims to see whether adding nivolumab improves control of the leukemia after relapse.
Birmingham, AlabamaAges 1–30 - NCT04504955Recruiting
Atopic dermatitis patient registry for medication safety and results
This study is a real-world registry that collects information from adults with atopic dermatitis (eczema) to track how newly started treatments work and how safe they are over time. It may help researchers and doctors better understand medication effects in everyday care.
Waltham, MassachusettsAges 18 years+ - NCT04561518Recruiting
Study of people with TTR amyloidosis worldwide
This is an observational study (no study drug) for people with transthyretin (TTR)–mediated amyloidosis, including people who carry certain gene changes before symptoms begin. It may help researchers better understand how the disease affects health over time and what to measure in future treatments.
La Jolla, CaliforniaAges Any age - NCT04574076Enrolling by invitation
Study of Esperoct for boys and men with hemophilia A
This study follows male participants with hemophilia A who are already taking Esperoct® as preventive (regular) treatment. It aims to learn how well this medicine works in real-world use and monitor safety over time.
ViennaAges Any age - NCT04573660Recruiting
Registry for people using Abbott vascular devices
This is a patient registry that collects health information from adults who get Abbott vascular devices during a planned procedure. It helps Abbott and doctors understand how these devices perform in everyday care.
Birmingham, AlabamaAges 18 years+ - NCT04528082RecruitingPhase 3
Apremilast for children with frequent mouth ulcers from Behçet’s disease
This study tests apremilast to help reduce active, recurring mouth (oral) ulcers in children with Behçet’s disease. It may help if your child has had repeated mouth ulcers despite at least one non-biologic treatment.
BronAges 2–17 - NCT04586075Recruiting
Get help finding the cause of an undiagnosed genetic condition
This study evaluates people whose medical cause is still unclear even after genetic tests and other workups. It uses coded health data and lab samples to look for a new or rare genetic cause, and it may return additional (“secondary”) genetic findings.
Madison, WisconsinAges Up to 100 years - NCT04509050Recruiting
Testing a highly effective CF medicine in young children
This study looks at how well a highly effective cystic fibrosis (CF) medicine works in infants and young children, and what biological changes it causes. It may help families understand whether the medicine improves CF function and related measures early in life.
Birmingham, AlabamaAges Up to 10 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,767 recruiting medical genetics studies from the U.S. registry right now, out of 5,497 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.