Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- 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
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT04575883Recruiting
Bike interval training for teens with repaired heart defects
This study tests a structured “interval” bike exercise program to see if it’s safe and helpful for teens with certain repaired congenital heart conditions. It may help improve fitness while closely monitoring heart symptoms during training.
Edmonton, AlbertaAges 10–18 - NCT04580368Recruiting
Personalized drug testing for cystic fibrosis using small trials
This trial tests how well cystic fibrosis (CF) medicine works for you using an “n-of-1” approach, meaning you try treatments in a structured, repeated way to see what helps you most. It may help your care team choose the best option for your specific CF genetics and health status.
Cincinnati, OhioAges 6 years+ - NCT04583644Recruiting
Fetal airway balloon procedure for severe left lung underdevelopment
This pilot study tests a fetal procedure (placing a tiny balloon in the fetus’s airway) to improve lung growth in pregnancies affected by severe left congenital diaphragmatic hernia (CDH). You may be eligible if your baby’s condition is isolated to the left side and the testing shows very high lung underdevelopment, and if you can meet study and payment requirements.
San Francisco, CaliforniaAges 18 years+ - 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 - NCT04587648Recruiting
Treating cardiac amyloidosis in heart failure with preserved ejection
This trial studies people with heart failure with preserved ejection fraction (HFpEF) and cardiac amyloidosis (an abnormal protein buildup in the heart). It may help researchers understand better treatment for symptoms and heart function in this group.
TaipeiAges 60 years+ - NCT04598750Recruiting
Assessing bleeding risk in very premature babies with low platelets
This trial looks at how to estimate bleeding risk in newborns who are very premature and have a low platelet count. The goal is to guide safer care by better identifying which babies may be at higher risk of bleeding.
Boston, MassachusettsAges 1 day+ - NCT04602325Recruiting
Blood and brain injury biomarker study for inherited metabolic disorders
This trial studies blood and other measurable signs (biomarkers) that may reflect brain injury after certain inherited metabolic conditions. Results may help doctors better detect and understand brain effects from these illnesses, especially episodes that affect the brain.
Washington D.C., District of ColumbiaAges 7–18 - NCT04602481Recruiting
Living with primary ciliary dyskinesia study
This study invites people who have been told they may have, or who have confirmed, primary ciliary dyskinesia. It aims to better understand living with PCD and what helps people day to day.
BernAges Any age - NCT04611516Recruiting
Study of ear, nose, and throat checks in PCD patients
This study follows people with primary ciliary dyskinesia (PCD) and looks at their regular ear, nose, and throat (ENT) checkups over time. Your participation may help doctors better understand how ENT care should be followed in PCD.
BernAges Any age - NCT04612296Recruiting
Heart Hive study for cardiomyopathy and family history
This observational study looks at people with cardiomyopathy or myocarditis, and people with a close family history of these conditions. It aims to better understand the condition and what factors may be involved.
LondonAges 18 years+ - NCT04613089Recruiting
Study of Batten disease progress and clinical changes over time
This trial tracks how Batten disease (NCL) affects the body and how symptoms change over time. If you have a confirmed genetic (molecular) diagnosis—especially CLN2 with Brineura treatment—it may help researchers understand disease patterns and care needs.
HamburgAges Any age - NCT04613583Recruiting
Study of fetal tissue collected during normal pregnancy
This study asks pregnant people with a normal ultrasound to join research where fetal tissue may be collected at an important point in pregnancy (7–20 weeks). It aims to better understand fetal development, and participation requires being able to understand the study in English.
AberdeenAges 16 years+ - NCT04622410Recruiting
Hirschsprung disease patient registry study
This study keeps a research record of people who have Hirschsprung disease and have had surgery. It helps doctors better understand long-term outcomes and care needs for future patients.
LeuvenAges Up to 18 years - NCT04622462Recruiting
Testing a lab marker to predict oral cancer risk
This study looks at biopsy samples from mouth lesions that seem concerning, to see if a specific lab marker pattern can help predict whether oral cancer may be present or developing. It may help doctors sort which suspicious lesions need closer attention sooner.
Edmonton, AlbertaAges 15–90 - NCT04623593Recruiting
Study of cost and value of neck disc surgery
This study looks at how cost-effective (good value for the money) anterior neck disc surgery is for people with nerve or spinal cord symptoms. If you need this type of operation, it may help doctors better choose treatments and plan healthcare resources.
Maastricht, LimburgAges 18 years+ - 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+ - 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 - NCT04626674RecruitingPhase 1
Gene therapy safety study for non-ambulatory Duchenne
This Phase 1 trial studies a one-time gene therapy treatment (SRP-9001) to see if it is safe and whether it can produce the needed gene activity in people with Duchenne muscular dystrophy (DMD) who are not walking. It may help researchers understand whether this approach could be useful for DMD patients, especially in later stages.
Little Rock, ArkansasAges 2 years+ - NCT04630613Recruiting
Studying NOX4 markers in young adults with ADPKD
This study measures a kidney-related marker (NOX4) and other blood/urine signals in people with early-stage ADPKD to better understand disease activity. It may help researchers identify who is likely to progress and why, though it may not be a treatment study.
Rochester, MinnesotaAges 15–40 - 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+ - 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 - NCT04639388Recruiting
Learning about psychosis in children with 22q11.2 deletion syndrome
This study looks at how “psychotic disorders” (like unusual beliefs, hallucinations, or thought changes) show up in children with 22q11.2 deletion syndrome. It mainly focuses on understanding the condition and may help improve care in the future.
Lyon, Auvergne-Rhône-AlpesAges 4–13 - NCT04644094Recruiting
Dexamethasone for heart function after very early birth
This study looks at how giving a steroid medicine (dexamethasone) after very early birth affects the baby’s heart function. It may help doctors better understand risks and benefits for babies who need treatment for serious lung problems.
Montreal, QuebecAges 1 minute+ - 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
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.