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
- NCT05534568Recruiting
Parent support program for families affected by pregnancy substance use
This program aims to help mothers and young children get safer, better support services when substance use occurred during pregnancy. It may help connect you (or your child) to the right community resources and reduce risk of ongoing alcohol or drug exposure.
Oklahoma City, OklahomaAges 18 years+ - NCT05534672RecruitingPhase 3
Rapamycin for drug-resistant seizures in tuberous sclerosis
This trial tests whether rapamycin (compared with a placebo) can reduce seizures caused by tuberous sclerosis complex (TSC) that have not been controlled by usual medicines. If you qualify, you may be helping doctors find a safer and more effective option for seizure control.
LodzAges 3 months–50 years - NCT05536388Recruiting
Study of a new drug for GBA-related Parkinson’s
This study is looking for ways to find new drugs that may help people with Parkinson’s caused by changes in the GBA gene. It may also include people with Gaucher disease and healthy volunteers, using blood and possibly skin samples.
New York, New YorkAges 18 years+ - NCT05537753Recruiting
PFO closure device test after recent unexplained stroke
This trial tests whether closing a hole in the heart (a PFO) with a special device can help prevent another stroke after an unexplained stroke. You may be a candidate if your stroke likely happened because blood can pass through this PFO.
Little Rock, ArkansasAges 18–60 - NCT05546593Recruiting
Ultrasound check for joint and tendon problems in gout
This study uses ultrasound to look for hidden changes in joints and tendons in people who have gout. It may help doctors better understand what ultrasound can show in gout, but it doesn’t sound like it’s testing a new medicine.
Boulogne-Billancourt, APHPAges 18 years+ - NCT05547165Recruiting
Closing a leaky heart connection early in very small babies
This trial compares an early procedure to close a heart vessel called the ductus arteriosus versus careful observation alone in very low-birth-weight preterm infants. It aims to see whether closing the vessel early can improve outcomes and be done safely.
Birmingham, AlabamaAges 1 week–1 month - NCT05550324Recruiting
Pediatric heart disease patient data repository
This trial is a data repository that collects information from children with heart (cardiovascular) conditions and related syndromes. It focuses on organizing cases and comparing groups to help researchers better understand pediatric heart disease.
Columbus, OhioAges Any age - NCT05552755RecruitingPhase 1/Phase 2
Drug trial for FAP to reduce pre-cancer growth
This early-phase trial studies REC-4881 in adults with familial adenomatous polyposis (FAP), a condition that causes many colon/rectum and duodenal polyps. It aims to see whether the treatment can safely help control or shrink polyp growth in people who have had bowel surgery.
Scottsdale, ArizonaAges 18 years+ - NCT05558059Recruiting
Scan blood vessels in preemie babies’ eyes with special imaging
This study uses pictures to map the tiny blood vessels in an infant’s retina (the back of the eye). It may help researchers better understand how eye blood vessel growth happens in premature babies who need screening for ROP (retinopathy of prematurity).
Durham, North CarolinaAges Up to 2 months - NCT05562778Recruiting
Chatbot helps you complete hereditary cancer genetic risk testing
This study tests whether a chatbot can help people complete hereditary cancer genetic risk assessment before a gynecology new-patient visit. It may help you understand and organize next steps for genetic testing, if needed.
Brooklyn, New YorkAges 18 years+ - NCT05563376Recruiting
Clinic visit for people with Fontan heart circulation
This study is for people born with a single-ventricle heart condition who now live with a Fontan circulation. It mainly focuses on having a dedicated clinic visit (“Fontan clinic session”) and checking how that care works for you.
ErlangenAges 6–60 - NCT05564689Recruiting
Tests coronary blood flow in heart failure patients with CRT
This study measures how well blood flows in the heart (coronary flow) in people with heart failure with reduced pumping strength and a specific heart rhythm problem called left bundle branch block. It focuses on people who already have a cardiac resynchronization therapy (CRT) device and have stable treatment, to see how coronary flow relates to their heart condition.
AalborgAges 18 years+ - NCT05567744Recruiting
Registry for families affected by CADASIL
This trial is a registry that collects information from adults who have CADASIL in their family, or who may be at risk. It helps researchers better understand CADASIL and who it affects, which can support future studies.
Madison, WisconsinAges 18–90 - NCT05568719RecruitingPhase 3
Testing gene therapy for hemophilia A or B
This Phase 3 trial is checking how safe and effective two gene therapies are for people with hemophilia A or hemophilia B. It only includes people who already received the study medicines through specific Pfizer studies, so it’s mainly for that existing participant group.
Rancho Cordova, CaliforniaAges 18 years+ - NCT05575882Recruiting
Skin cream trial to prevent relapses in very dry eczema skin
This trial tests whether a cosmetic cream can reduce eczema flare-ups and is comfortable/safe to use on very dry, irritated, eczema-prone skin. It’s mainly for children who have had recent flare-ups and moderate eczema severity.
Ciudad Autónoma de Buenos Aire, Ciudad Autónoma de Buenos AireAges 6 months–15 years - NCT05577754RecruitingPhase 2
Trial tests alpelisib for MCAP with PIK3CA mutations
This Phase 2 study tests alpelisib in children and adults with MCAP, a condition caused by a specific PIK3CA gene mutation. The goal is to see if the treatment is effective and safe, while carefully monitoring blood sugar and organ function.
AmiensAges 2–40 - NCT05578716Recruiting
Study growth and allergies in formula-fed vs breastfed infants
This trial compares how babies grow and whether they develop allergy or digestive symptoms in breastfed infants versus infants fed a special hydrolysed formula. It may help doctors understand which feeding approach supports healthy development early in life.
MalmöAges 4 weeks–2 months - NCT05579548Recruiting
Study of Pegvaliase use in pregnancy and breastfeeding for PKU
This study looks at how taking Pegvaliase during pregnancy and breastfeeding affects pregnancy, baby health, and early infant outcomes in people with PKU. It may help improve care guidance for patients and babies exposed to Pegvaliase before birth.
Wilmington, North CarolinaAges Any age - NCT05581147Recruiting
Thyroid health in Klinefelter syndrome
This study looks at how the thyroid gland works and how it looks on ultrasound in people with classic (non-mosaic) 47,XXY Klinefelter syndrome. It may help doctors understand thyroid-related problems in this condition by comparing test results, symptoms, and imaging.
RomaAges 1–80 - NCT05582993RecruitingPhase 3
Study of rVWF for severe bleeding disorder in children
This Phase 3 trial tests vonicog alfa (an rVWF treatment) to prevent and control bleeding in children with severe von Willebrand disease (vWD). You may be able to join if your child has severe vWD and has been on prior clotting factor treatment with ongoing bleeding despite that care.
Birmingham, AlabamaAges Up to 17 years - NCT05583721RecruitingPhase 2
PET scan study of heart filling and blood flow in sickle cell
This study uses a PET scan to look for links between abnormal heart “filling” problems and how well blood reaches the heart muscle in people with sickle cell disease. The results may help explain early heart changes in sickle cell and guide future care.
Memphis, TennesseeAges 18–21 - NCT05584488Recruiting
Study of immune and allergy patterns over time
This study follows people with suspected or known inherited immune/allergy problems by collecting health information and blood. It may help researchers understand how immune systems and allergies behave over time and support future studies.
New York, New YorkAges Up to 99 years - NCT05586802RecruitingPhase 3
Balancing sex hormones to improve metabolism and fertility in Klinefelter
This study tests whether adjusting sex-hormone levels can improve body metabolism and reproductive hormone balance in people with Klinefelter syndrome. Depending on the design, you may be looking at fertility preservation and/or metabolic health.
LausanneAges 16–65 - NCT05587439Recruiting
Study of inherited genetic risk in lung and related cancers
This study looks for inherited (family-passed) genetic changes that may raise the risk of lung cancer and related thoracic cancers. It may help people and families understand their genetic risk by collecting health information and sometimes specimens from patients and relatives.
Boston, MassachusettsAges 18 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.