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
- NCT04731272RecruitingPhase 2
Weekly GLP-1 medicine for blood sugar issues in adults with CF
This Phase 2 trial tests a weekly GLP-1 medicine (dulaglutide) to improve blood sugar control in adults with cystic fibrosis (CF) who have trouble managing glucose. It may help people with CF-related prediabetes or diabetes by improving how their body handles sugar.
Aurora, ColoradoAges 18 years+ - NCT04715191RecruitingPhase 1
CAR T therapy for GPC3-positive pediatric solid tumors
This Phase 1 study tests a customized immune-cell treatment (CAR T cells) made to recognize GPC3, a marker found on some tumors. It’s designed for children and young people whose solid tumors have not been cured by standard treatment and who can safely receive this therapy.
Houston, TexasAges 1–21 - NCT04706910RecruitingPhase 3
PET scan study to optimize imaging in several diseases
This trial improves a special PET scan (a type of brain/body imaging) using 18F-DOPA, to better show how certain conditions behave in the body. If you or your child may have one of the listed conditions, the study may help your doctors get clearer scan results.
Edmonton, AlbertaAges Any age - NCT04703179Enrolling by invitation
Rare disease and undiagnosed case research blood and tissue biobank
This study collects and stores samples and related medical information for people with rare diseases or suspected genetic conditions. It may help researchers better understand these conditions and develop future testing and treatments.
Scottsdale, ArizonaAges Any age - NCT04753970RecruitingPhase 1/Phase 2
Study uses retina changes to assess blood vessel health
This study looks at the back of your eyes (the retina) to see if it reflects blood vessel health in the brain. It may help doctors find easier ways to track conditions related to small blood vessel disease.
Jacksonville, FloridaAges 18 years+ - NCT04732910Recruiting
Study of CFTR-modulator effects using body samples
This study looks at how well CFTR-modulator medicines are working in people with cystic fibrosis, by checking specific “biomarkers” (measurable signals) in samples. Your care team may use the results to better understand how these medicines help, especially for certain CFTR changes.
Berlin, State of BerlinAges 6 months+ - NCT04691622RecruitingPhase 1
Treat chronic norovirus using donor immune cells
This Phase 1 study tests whether giving immune cells made from a donor can help children and adults with long-lasting (chronic) norovirus infection. It’s aimed at people whose immune system is weakened after a stem cell transplant, solid organ transplant, or due to primary immune problems.
Washington D.C., District of ColumbiaAges 3 months–80 years - NCT04770571Enrolling by invitation
Study of posterior neck and upper-back spine fixation systems
This trial studies specific surgical hardware used to stabilize the back of the neck and upper back during spine surgery. It may help surgeons compare outcomes for people needing fixation for trauma, instability, failed prior fusion, tumors, or certain degenerative conditions.
Orange, CaliforniaAges 18 years+ - NCT04647227RecruitingPhase 4
SEVENFACT® to reduce bleeding in hemophilia with inhibitors
This trial studies whether SEVENFACT® can reduce bleeding episodes in people with hemophilia A or B who have inhibitors (proteins that make standard treatments less effective). It also tests how well people can track bleeding and medicine use during the study.
Phoenix, ArizonaAges 12–100 - NCT04645160RecruitingPhase 1/Phase 2
Tivozanib for bile duct and gallbladder cancers after chemotherapy
This Phase 1/2 trial tests tivozanib (a targeted anti-cancer drug) in people with bile duct or gallbladder cancer that cannot be removed by surgery and has already been treated with first-line chemotherapy. The study looks at how well the drug works and how safe it is in this setting.
Bethesda, MarylandAges 18 years+ - NCT04616560RecruitingPhase 2
New drug for recurrent Wilms tumor, osteosarcoma, and DSRCT
This trial tests a targeted drug called trastuzumab deruxtecan for children and young adults with certain cancers that have come back or not responded to treatment. It may help if your tumor has not responded to standard therapies.
Birmingham, AlabamaAges 12–39 - NCT04657068RecruitingPhase 1/Phase 2
Study of ART0380 for advanced solid tumors
This study tests a new drug called ART0380 for people with advanced solid tumors that have not responded to standard treatments. It may be especially helpful for those with certain DNA repair gene changes (like ATM or BRCA). The drug will be given alone or with chemotherapy (gemcitabine or irinotecan) depending on the part of the trial.
Birmingham, AlabamaAges 18 years+ - NCT04628585Enrolling by invitation
Follow-up for people with sickle cell treated with gene therapy
This study is a long-term follow-up for people who already received gene therapy for sickle cell disease in a specific sponsor’s clinical trial. It helps researchers watch for long-term safety and outcomes over time.
Birmingham, AlabamaAges 2–53 - NCT04634916Recruiting
Check how a dialysis fistula device performs in real life
This study monitors how well the BD WavelinQ endoAVF device works after routine clinical use. It may help people who need a dialysis access fistula by sharing real-world safety and performance data.
La Jolla, CaliforniaAges 18 years+ - NCT04682145Enrolling by invitation
Uses EUHASS data to study turoctocog alfa pegol side effects
This study collects and reviews side-effect information from the EUHASS registry in people with hemophilia. It may help doctors better understand how turoctocog alfa pegol (a clotting medicine) is tolerated in real-world care.
SøborgAges Any age - NCT04626674RecruitingPhase 1
Gene therapy for non-ambulatory Duchenne muscular dystrophy
This study tests a gene therapy that aims to help muscles produce a protein they are missing. It is for people with Duchenne muscular dystrophy who are no longer able to walk, and it may help slow the progression of the disease.
Little Rock, ArkansasAges 2 years+ - NCT04657822RecruitingPhase 4
Crizanlizumab rollover study for people with sickle cell disease
This study lets people with sickle cell disease who already finished a Novartis crizanlizumab trial continue treatment under a rollover plan. It’s designed for participants who benefited from crizanlizumab and completed the earlier study schedule without major ongoing side effects.
Birmingham, AlabamaAges 6 months–100 years - NCT03758521Recruiting
Natural history study of SSADH deficiency in children and adults
This study tracks how SSADH deficiency (a genetic condition) affects health over time. There is no new drug being tested; instead, researchers collect medical history and perform certain optional scans/tests that can help describe disease patterns and future treatment needs.
Boston, MassachusettsAges Any age - NCT03639285Recruiting
Study of inherited leukodystrophy symptoms and outcomes
This study follows people with inherited leukodystrophies to better understand how the condition is diagnosed and how it changes over time. It may help doctors improve testing and care planning by collecting clinical and imaging information.
Salt Lake City, UtahAges 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 - 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+ - 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 - NCT04604418Recruiting
Tracking outcomes during non-heart procedures in children with heart defects
This study looks at how children with congenital heart disease do during routine non-heart procedures, including medical or minor treatments that are not heart-related. It also measures how much health care they use afterward, which may help improve care planning for families.
Los Angeles, CaliforniaAges Up to 21 years - 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
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.