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
- NCT03698149Recruiting
Brain-signal training for hand and speech control after disability
This study tests whether recording brain signals can help people regain better control of movements in the arms and help with speech. It may be an option for people with significant disability from certain nerve and brain conditions who can safely take part in brain-monitoring procedures.
San Francisco, CaliforniaAges 21 years+ - NCT03579875RecruitingPhase 2
Testing an inherited bone marrow transplant approach for rare blood disorders
This Phase 2 study tests a special “T-cell depleted” transplant plan for people with inherited bone marrow failure disorders (Fanconi anemia or T-Beta-thalassemia—or “TBD”). It may help restore healthy blood production while lowering the chance of certain transplant complications.
Minneapolis, MinnesotaAges Up to 65 years - NCT03533985Recruiting
Music therapy for newborns in the NICU with withdrawal symptoms
This study looks at whether music therapy can help infants who are born with neonatal abstinence syndrome (withdrawal symptoms after birth). It may support comfort, bonding, or overall newborn well-being while they’re in the NICU.
New Orleans, LouisianaAges 6 months+ - NCT03708627RecruitingEarly Phase 1
Bimatoprost for eye swelling in Graves’ orbitopathy
This early study tests whether bimatoprost (eye drops) can reduce signs of Graves’ orbitopathy, a condition that can cause bulging eyes. It may help improve eye symptoms for people whose Graves-related eye problems are present.
Seattle, WashingtonAges 18 years+ - NCT03704207Recruiting
Testing a diagnostic workup to guide care for PCD
This study checks whether using “PCD diagnostics” helps clinicians make better care decisions for people being evaluated for PCD. You might be able to join if you’re referred for PCD diagnosis and can complete the study steps.
Nashville, TennesseeAges 1 year+ - NCT03538899RecruitingPhase 1/Phase 2
Gene therapy for children with an Artemis SCID immune problem
This early-phase study tests an “autologous” gene therapy, meaning they use the child’s own cells, adjusted with a working gene, to help restore immune function. It is for babies and children with Artemis-deficient SCID, aiming to improve T-cell immunity and reduce the need for lifelong infection risk management.
San Francisco, CaliforniaAges 2 months+ - NCT03593317RecruitingPhase 2
Test medicine that blocks hormones for ARVD heart disease
This Phase 2 trial studies whether blocking certain heart/hormone signals can improve ARVD (a heart muscle condition). It also looks at safety by checking how well your kidneys and electrolytes tolerate these medicines.
AmiensAges 18 years+ - NCT03587961RecruitingEarly Phase 1
Personalized testing to find the best CF medicine for you
This early study tests an individualized approach (“theratyping”) to match your cystic fibrosis (CF) to the CFTR medicine that may work best for your specific genetic change. It may help find a more tailored treatment plan and see how your body responds, while using medicines that are already approved for some people with CF.
Birmingham, AlabamaAges 6 years+ - NCT03527342Enrolling by invitation
Sahlgrenska heart muscle disease study
This study focuses on people with certain “heart muscle” conditions (cardiomyopathies) to better understand them and guide care. If you have one of these specific diagnoses and are an adult, you may be able to take part.
GothenburgAges 18–99 - NCT03702309Recruiting
Banking and testing blood samples to study cancer
This study collects blood samples to “test and store” (bank) information that may help doctors understand cancer in the future. You might be able to join if you’re an adult with confirmed cancer or a higher-than-usual risk for cancer.
Toronto, OntarioAges 18 years+ - NCT03662178Recruiting
Ultrasound check plan for healthy baby growth during pregnancy
This trial looks at how a structured ultrasound schedule may help track fetal (baby) growth during routine prenatal care. It may benefit patients by improving how pregnancy growth checks are planned and recorded.
Oxford, OxfordshireAges 16–60 - NCT03568630Recruiting
Blood tests to study early pancreatic cancer risk
This study looks at blood “markers” to find early signs or higher risk for pancreatic cancer. You may join if you have certain risk factors (like new diabetes, pancreatic cysts/pancreatitis, or a strong family history) and can come to Omaha for blood draws twice a year.
Omaha, NebraskaAges 19 years+ - NCT03587272RecruitingPhase 2
Sibling bone marrow transplant to reduce treatment side effects
This study tests a way to do a bone marrow (stem cell) transplant from an HLA-matched sibling in children with sickle cell disease, aiming to lower the risk of serious side effects. You may be considered if you have certain past sickle complications and your body can safely handle the transplant plan.
Washington D.C., District of ColumbiaAges 2–25 - NCT00710112Recruiting
Genetic risk study in very low birth-weight babies
This study looks at genetic differences to understand why some very low birth-weight babies develop certain health problems. It may help doctors predict risk and tailor care for these babies.
Milwaukee, WisconsinAges Any age - NCT00710177Recruiting
Study genes and risk of persistent lung blood pressure in newborns
This study looks at a newborn’s genes (PTGS1 variation) and whether that relates to persistent pulmonary hypertension of the newborn (PPHN), a serious breathing/lung blood-pressure problem. It may help doctors understand who is at higher risk and how to better identify affected babies early.
Milwaukee, WisconsinAges Up to 1 year - NCT03406611RecruitingPhase 1/Phase 2
Enzyme replacement for classical homocystinuria in children
This study tests a new enzyme replacement therapy called pegtibatinase for children with classical homocystinuria (HCU). The enzyme helps break down homocysteine, which may lower its levels in the blood and reduce symptoms.
Aurora, ColoradoAges 5–65 - NCT03307304Recruiting
Studying different forms of childhood brain-wasting disease
This study looks at people with CLN3 and other related forms of NCL (a childhood brain-wasting illness) to better describe symptoms and disease changes over time. You may be followed with regular check-ins, medical records, and sometimes NIH visits or sample collection.
Bethesda, MarylandAges 1 week–100 years - NCT03305835Recruiting
Genetic testing for inherited kidney stone causes
This study uses genetic testing to look for inherited (“monogenic”) reasons some people get kidney stones. It may help explain the cause of stones and calcium-related problems, which can guide future care for you or your family.
Rochester, MinnesotaAges Any age - NCT03478761Recruiting
Registry for people with CYP24A1 vitamin D–related kidney stone risk
This is a research registry for people who have a confirmed CYP24A1 genetic change tied to high calcium and kidney stone problems. It helps researchers better understand who is affected and may guide future studies or care approaches.
Rochester, MinnesotaAges Any age - NCT03396341Recruiting
Surveys after genetic risk results for certain breast cancer genes
This study asks women to complete surveys after learning their genetic risk results for certain breast cancer–related gene changes. It helps researchers understand how people respond and what they think or feel after getting these results.
Boston, MassachusettsAges 25 years+ - NCT03334292Recruiting
Study of the natural course of Wilson disease
This study follows people who already have Wilson disease to understand how the condition changes over time. It may help researchers better predict future symptoms and improve care.
New Haven, ConnecticutAges Any age - NCT03301038RecruitingPhase 2
Rifampin for high blood calcium
This study tests if rifampin, a medicine usually used for infections, can lower high calcium levels in people with a rare genetic condition affecting vitamin D. It might help reduce symptoms like kidney stones or bone pain.
Philadelphia, PennsylvaniaAges 6 months–70 years - NCT03417856Enrolling by invitation
Study skin and blood signs in ichthyosis
This study looks at “skin and blood biomarkers,” meaning measurable signs in the body, in people with ichthyosis to better understand the condition. It may help researchers find ways to track disease activity and evaluate future treatments.
Chicago, IllinoisAges 1–60 - NCT03385876Enrolling by invitation
Rapid whole genome sequencing for children with suspected genetic illness
This study quickly reads a child’s DNA using whole genome sequencing to look for genetic causes of symptoms. It may help families and doctors better understand an underlying genetic condition and guide medical care.
San Diego, CaliforniaAges 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.