Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,863 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- 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 Human Genome Research Institute (NHGRI)23
Where studies are running
- California339
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona77
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,863 total
- NCT03024918Recruiting
Study of unequal blood sharing in identical twin pregnancies
This is an observational study in pregnancies with identical twins who share the same placenta. It looks at uneven sharing of blood flow and how often it happens in different twin complications—without changing your treatment.
LeuvenAges 18 years+ - NCT03660917RecruitingPhase 2/Phase 3
Riluzole treatment for SCA7 nerve balance problems
This trial studies whether riluzole can help people with spinocerebellar ataxia type 7 (SCA7), a genetic condition that affects balance and coordination. It may help slow symptoms or improve daily function, and you’d be closely monitored for side effects.
RomeAges 7 years+ - NCT07270549RecruitingPhase 1/Phase 2
Gene therapy trial for children with CTNNB1 syndrome
This trial tests a one-time gene replacement therapy given into the fluid around the brain to help children with CTNNB1 neurodevelopmental syndrome. The goal is to see if replacing the faulty gene can improve development and reduce symptoms.
LjubljanaAges 2–12 - NCT06776848RecruitingPhase 1/Phase 2
Lithium for TBR1-related neurodevelopmental disorder
This trial tests whether taking lithium for 2 years can improve symptoms in people with a TBR1 gene change that causes neurodevelopmental challenges. It aims to see if lithium is safe and helpful for this condition.
DijonAges 6 years+ - NCT07393620Recruiting
Predicting brain outcomes in newborns with mild oxygen loss
This study uses brain monitoring and oxygen measurements in newborns who had a mild lack of oxygen at birth to see if these tests can predict how the baby will develop. The goal is to find early signs that might help guide care.
BursaAges birth–6 hours - NCT06662188RecruitingPhase 1/Phase 2
Gene therapy for children with SHANK3-related condition
This trial tests a gene therapy called JAG201 for children with a SHANK3 mutation or 22q13.3 deletion, which causes Phelan-McDermid syndrome. The goal is to see if it can help with development and daily function.
Chicago, IllinoisAges 2–9 - NCT07257289Recruiting
Heart risk study for inherited heart conditions
This study looks at people with inherited heart diseases and their relatives to better predict risks of dangerous heart rhythms or heart failure. It may help find out if you or your family members need closer monitoring.
BordeauxAges 1–100 - NCT06683560Recruiting
3D-printed aligners for cleft lip and palate repair
This study tests whether custom 3D-printed aligners can help shape a baby's cleft lip, gum, and palate before surgery. It aims to make traditional molding treatment more precise and easier for families.
Cairo, AbbasyaAges Up to 1 month - NCT06177171RecruitingPhase 1
Olaparib and ASTX727 for DNA repair-deficient cancers
This trial tests a combination of two drugs—olaparib (a PARP inhibitor) and ASTX727 (a DNA hypomethylating agent)—for people whose cancers have a specific DNA repair flaw. The goal is to see if this combination can shrink tumors or slow their growth.
San Francisco, CaliforniaAges 18 years+ - NCT07220265Recruiting
PKU carriers: How high phenylalanine affects the brain
This study looks at how carrying one copy of the PKU gene might affect thinking and brain health in adults. It will help researchers understand if mild changes in a substance called phenylalanine can impact memory, focus, and brain scans.
Columbia, MissouriAges 18–60 - NCT07363538Recruiting
Comparing heart surgery methods for newborns with complex heart defects
This trial tests new surgical strategies for newborns with certain complex heart conditions. It aims to see which techniques lead to better recovery and quality of life in the first year after surgery.
Beijing, Beijing MunicipalityAges Up to 1 week - NCT06226987Recruiting
Heart imaging study for Fabry disease
This study uses special MRI scans to look at how Fabry disease affects the heart. It may help researchers understand the disease better.
Cambridge, CambridgeshireAges 18 years+ - NCT07194993Recruiting
Testing protein needs in adults with PKU
This study looks at how much protein people with PKU need. If you have PKU and are 18 or older, you may help researchers understand your body's protein needs better.
Atlanta, GeorgiaAges 18 years+ - NCT06921733Recruiting
Ultrasound study for children with kidney and urinary birth defects
This trial uses a special ultrasound technique to create detailed images of blood flow in the kidneys of children with congenital kidney and urinary tract conditions. It aims to improve how doctors assess blockages without needing radiation.
Erlangen, BavariaAges birth–6 years - NCT07695610Recruiting
Studying unknown movement disorders in children in Vietnam
This trial is for children in Vietnam who have a movement disorder with an unknown cause. Researchers want to learn more by doing genetic testing, which might help find better treatments or answers for families.
Ho Chi Minh City, Ho Chi Minh CityAges Up to 18 years - NCT05773729Recruiting
Gene-modified own stem cell treatment for transfusion-dependent thalassemia
This trial tests a one-time treatment that uses your own (autologous) stem cells that have been changed by gene methods, then returned to you to help manage transfusion-dependent beta-thalassemia. It aims to check safety and whether it can reduce the need for frequent blood transfusions or improve blood health.
ShanghaiAges 3–18 - NCT06657859Enrolling by invitationPhase 2
Extended study of GLM101 for PMM2-CDG patients
This study is for people who already completed a previous trial of GLM101 for PMM2-CDG. It offers continued access to the treatment while doctors monitor safety and effects.
Minneapolis, MinnesotaAges 2 years+ - NCT07036536Recruiting
Non-Euploid Embryo Transfer Registry
This registry is collecting information from people who plan to transfer an embryo that is not genetically normal (non-euploid) at a fertility clinic in The Prelude Network. It will help doctors learn more about outcomes with these embryos.
Houston, TexasAges Any age - NCT07134049Recruiting
Sensory therapy for kids with brachial plexus injury
This study tests whether sensory integration therapy helps young children with a brachial plexus injury (nerve damage in the arm from birth) improve their development. It may be a good option for children who have not had other therapies recently and do not have other major health issues.
AnkaraAges 7 months–2.9 years - NCT05312879RecruitingPhase 2/Phase 3
Test drug VX-147 for APOL1-related protein in urine kidney disease
This trial studies whether VX-147 can improve kidney disease caused by an APOL1 gene change, which often leads to protein leaking into the urine. It includes both adults and children and focuses on safety and effectiveness over time.
Alabaster, AlabamaAges 10–65 - NCT06511349RecruitingEarly Phase 1
YOLT-203 for type 1 primary hyperoxaluria (PH1)
This trial tests an experimental drug called YOLT-203 for people with type 1 primary hyperoxaluria (PH1), a rare condition that causes high oxalate levels and can damage the kidneys. It aims to see if YOLT-203 can safely help manage the disease.
Shanghai, Shanghai MunicipalityAges 2 years+ - NCT07572227Enrolling by invitation
Fetal Surgery for Blocked Bladder in Male Babies
This trial tests a minimally invasive surgery (fetal cystoscopy) performed during pregnancy to help male babies with severe bladder obstruction. The goal is to prevent kidney damage and improve outcomes after birth.
Rochester, MinnesotaAges 18 years+ - NCT06089421Recruiting
Genetic information assistant for cancer risk testing
This study tests a tool called GIA (Genetic Information Assistant) that helps people understand genetic testing for cancer risk. You would use the tool on a smartphone or computer during a genetic counseling session.
Charlottesville, VirginiaAges 18 years+ - NCT05842109Recruiting
Testing a breath marker to guide care for newborn jaundice
This study looks at a breath-related measurement (from the air you exhale) to help diagnose and guide treatment for jaundice in certain newborns. It may help the care team better decide what care you need after birth, especially when jaundice is related to blood type mismatch.
HangzhouAges Up to 1 week
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,863 recruiting medical genetics studies from the U.S. registry right now, out of 5,730 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.