Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- 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
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT05145010Enrolling by invitationPhase 2
Infigratinib follow-up for children with achondroplasia
This trial studies how well infigratinib works and remains safe for children with achondroplasia. It includes children who already took infigratinib in a prior QED study, and some who are starting treatment for the first time.
Oakland, CaliforniaAges 3–18 - NCT05101746Enrolling by invitationPhase 2/Phase 3
Nitric oxide to protect brain and kidneys in babies during heart surgery
This trial studies whether giving nitric oxide during heart-lung bypass surgery can help protect a baby’s brain and kidneys. If you qualify, the study team will check outcomes after surgery to see if benefits happen compared with usual care.
Nashville, TennesseeAges birth–1 year - NCT05100420Enrolling by invitation
HCM registry and DNA/imaging data collection study
This study collects health records, heart ultrasound (echo), MRI images, and optional DNA testing for people with hypertrophic cardiomyopathy (HCM). It aims to build a large database to better understand HCM and support future research and care.
Edmonton, AlbertaAges Any age - NCT05011071Enrolling by invitation
Alberta BLOOM study for very premature newborns
This study follows babies born very early and their parents to learn about early health and development. It may help doctors better understand what babies need after a premature birth.
Calgary, AlbertaAges birth+ - NCT04933721Enrolling by invitationPhase 3
Continue berotralstat for people with hereditary angioedema
This study lets people who were already taking berotralstat through earlier BioCryst studies keep the treatment going. It looks at safety and ongoing benefit for preventing hereditary angioedema attacks.
OttawaAges 2 years+ - NCT04930289Enrolling by invitation
Lung transplant registry for better donor lung preservation
This study builds a worldwide database to track and improve how donor lungs are preserved before transplant. Your information may help doctors choose and manage donor lungs more effectively.
Phoenix, ArizonaAges Any age - NCT04929457Enrolling by invitation
Screening to detect inherited high cholesterol
This study tests a digital screening method to help identify and diagnose familial hypercholesterolemia, an inherited condition that can cause very high cholesterol. If you participate, you may be invited to complete screening steps to see whether they can find the condition early.
StockholmAges Any age - NCT04848090Enrolling by invitation
Genetic testing for newborns in the hospital intensive care unit
This study uses whole-genome sequencing (a DNA test that looks across the genome) for newborns in the intensive care unit when doctors suspect a genetic condition. It aims to help identify possible genetic causes of illness and improve understanding for families and clinicians.
Pittsburgh, PennsylvaniaAges Up to 1 year - NCT04840017Enrolling by invitation
Rehab program for balance and walking in flexible flatfeet
This trial tests whether a rehabilitation exercise program can improve balance and walking in children who have flexible flatfeet. The goal is to see if targeted rehab improves posture, stability, and gait (how your child walks).
GdanskAges 7–12 - NCT04833907Enrolling by invitationPhase 1/Phase 2
Gene therapy study for typical Canavan disease in children
This early-phase trial tests a gene therapy medicine (delivered by a one-time infusion) for children with typical Canavan disease. It aims to improve safety and help evaluate whether the treatment may benefit children over time.
Dayton, OhioAges 3 months–5 years - NCT04798430Enrolling by invitationPhase 3
Study drug follow-up for LDL reduction in high-risk cholesterol patients
This Phase 3 study looks at the long-term safety and benefit of OLE LIB003 for people with very high cholesterol or heart disease risk who still need lower LDL (“bad cholesterol”). It’s likely a continuation study for participants who already did earlier LIB003 Phase 3 trials.
Evanston, IllinoisAges 10 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+ - NCT04762992Enrolling by invitationPhase 3
Heparin medicine for early slow fetal growth in one pregnancy
This study tests whether a blood-thinner medicine (LMWH) can improve outcomes for people carrying a singleton baby with early signs of slow growth. It compares LMWH against standard care to see if treatment helps the baby and pregnancy stay safer.
LisbonAges 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 - 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 - 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 - NCT04579211Enrolling by invitation
Urine testing to skip repeated NTM sputum checks in cystic fibrosis
This study looks at whether a urine test (instead of repeated sputum—mucus—from the lungs testing) can help determine who with cystic fibrosis does not have certain lung germs called NTM. If the urine test works, it could reduce the need for lung sample testing while still keeping people safe.
Denver, ColoradoAges 18 years+ - 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 - NCT04432623Enrolling by invitationPhase 1/Phase 2
Test drug for adults with beta thalassemia intermedia
This trial studies an investigational medicine in adults with beta thalassemia intermedia (including non-transfusion dependent thalassemia). The goal is to see how well the treatment works and how safe it is for people whose hemoglobin runs in a certain range.
Oakland, CaliforniaAges 18 years+ - NCT04381611Enrolling by invitation
Study of glaucoma surgeries and laser treatments over time
This study looks at people with glaucoma or high eye pressure to understand how surgeries and laser treatments affect long-term outcomes. It may help doctors predict which treatments work best for different patients.
Lausanne, Canton of VaudAges 1–100 - NCT04360265Enrolling by invitationPhase 3
Follow-up gene therapy study for MPS IIIA participants
This follow-up study looks at how a past gene therapy treatment (UX111) is affecting you over time. It mainly involves continued visits and safety checks, and it helps researchers understand long-term benefits and risks.
Columbus, OhioAges Any age - NCT04348708Enrolling by invitation
Long-term follow-up after receiving HMI 102
This study checks how people are doing long-term after they previously received a treatment called HMI 102. It may help researchers understand long-term safety and outcomes so future patients can be better supported.
Boston, MassachusettsAges 18–55 - NCT04286464Enrolling by invitation
Study how pregnancy affects airway inflammation in babies
This study looks at how different pregnancy and birth factors may contribute to airway inflammation in infants who wheeze or have lung conditions. It may help researchers understand why some babies get ongoing breathing problems and how early influences could be linked.
BernAges Any age - NCT04246060Enrolling by invitation
Quality-of-life study for people with cystinosis
This is an observational study that asks people with nephropathic cystinosis about their quality of life while taking cystine-depleting treatment (cysteamine). It may help researchers better understand how this condition and treatment affect daily living.
AntwerpAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,795 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.