Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- 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
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT07179640RecruitingPhase 1/Phase 2
Testing ALE1 for hypophosphatasia in healthy people and patients
This trial tests a new medicine called ALE1 for hypophosphatasia (HPP), a rare bone condition. It first checks safety in healthy volunteers, then tests if the medicine helps people with HPP.
WürzburgAges 18–50 - NCT07180355RecruitingPhase 1
Gene therapy trial for Friedreich's ataxia
This trial tests a gene therapy called SGT-212 for people with Friedreich's ataxia. It aims to help treat the condition by delivering a working copy of the gene.
Los Angeles, CaliforniaAges 18–40 - NCT04980638RecruitingPhase 2
Check ER004 given in the womb for a genetic tooth-skin disorder
This Phase 2 study tests ER004 put into the amniotic fluid during pregnancy to treat male babies with X-linked hypohidrotic ectodermal dysplasia (XLHED). It also looks at effects in affected male relatives with the same gene change.
Los Angeles, CaliforniaAges 18 years+ - NCT05819463Recruiting
Study care for moderate to severe atopic dermatitis
This trial looks at treatment and medical care for teens and adults with moderate to severe atopic dermatitis (eczema). It may help by testing ways to manage symptoms better based on severity and current treatment needs.
BaselAges 12 years+ - NCT06458010RecruitingEarly Phase 1
Gene therapy trial for inherited high cholesterol
This trial tests a new gene therapy called YOLT-101 for people with familial hypercholesterolemia, a genetic condition that causes very high cholesterol. The treatment aims to lower cholesterol levels and reduce heart risks.
Shanghai, Shanghai MunicipalityAges 18–75 - NCT06925269Recruiting
DMD Voice: Interviews with patients and caregivers
This study invites people with Duchenne muscular dystrophy (DMD) and their caregivers to share their experiences through interviews. It focuses on those who have been taking the medication Givinostat for at least two years, or caregivers of patients with limited arm movement.
Yardley, PennsylvaniaAges 10 years+ - NCT07169279RecruitingPhase 2
Study of infigratinib for children under 3 with achondroplasia
This trial tests an oral medication called infigratinib to see if it can help young children with achondroplasia. It is for children under 3 years old who have a confirmed genetic diagnosis.
Oakland, CaliforniaAges birth–2.7 years - NCT07168434RecruitingPhase 3
Yeast supplement for irritable bowel syndrome (IBS)
This trial tests if a yeast supplement called Saccharomyces boulardii can help people with irritable bowel syndrome (IBS), except for those with constipation as their main symptom. Participants take the supplement and see if their symptoms improve.
BragaAges 18–65 - NCT07172464Recruiting
Study of a new device to close a hole in the heart after a stroke
This trial tests a new device to close a PFO (a small hole between the upper chambers of the heart) in people who have had a stroke caused by a blood clot. The goal is to prevent future strokes by blocking the hole.
Los Angeles, CaliforniaAges 18–65 - NCT07166172Recruiting
Long-term outcomes after fetal surgery for severe CDH
This study follows pregnant women and their babies after a special fetal surgery (FETO) for severe diaphragmatic hernia (CDH). It aims to understand long-term health outcomes for both mother and child.
Baltimore, MarylandAges 18 years+ - NCT07172243Recruiting
Amycon biobank and data registry for amyloidosis
This study collects blood and tissue samples and health data from people with amyloidosis to build a biobank and registry. Researchers hope this will help improve future diagnosis and treatment.
LeuvenAges 18 years+ - NCT07172958RecruitingPhase 1
Immune cell therapy for children with certain solid tumors
This trial tests a new type of immune cell therapy called CAR T cells that are designed to recognize and attack cancer cells in children and young adults with certain solid tumors that have come back or not responded to standard treatment.
Washington D.C., District of ColumbiaAges 1–23 - NCT07172971RecruitingPhase 1
SGLT2i drug for heart health in Duchenne muscular dystrophy
This trial tests if an SGLT2i medication can help protect heart function in people with Duchenne muscular dystrophy (DMD). The drug is already approved for other conditions, and researchers want to see if it can slow or prevent heart muscle damage.
Nashville, TennesseeAges 8–18 - NCT07173153Enrolling by invitationPhase 1/Phase 2
Gene therapy study for SLC6A1 genetic disorder
This trial tests a gene therapy for people with a specific mutation (S295L) in the SLC6A1 gene, which causes a neurodevelopmental disorder. The therapy aims to correct the genetic issue, and participants will be monitored closely for safety and effectiveness.
Columbus, OhioAges Any age - NCT07164937Enrolling by invitation
Imaging and gait study for FSHD patients
This study looks at muscle MRI images and walking patterns (3D gait analysis) in people with FSHD. It helps researchers understand how the disease affects movement and muscle over time.
RomeAges 18 years+ - NCT07171905RecruitingPhase 2
Study of a new imaging agent for Von Hippel-Lindau disease
This trial tests a special imaging agent that targets a protein found in tumors related to Von Hippel-Lindau (VHL) disease. It may help doctors better detect and monitor these tumors.
Milan, ItaliaAges 18 years+ - NCT07167329RecruitingPhase 2
Belzutifan for VHL syndrome: a real-world study
This trial tests the drug belzutifan (a pill taken by mouth) in people with VHL syndrome who have kidney or other VHL-related tumors that are growing or can be measured. The study looks at how well belzutifan works in real-world conditions and whether certain genetic factors affect how the drug works.
São Paulo, São PauloAges 14 years+ - NCT07170176Recruiting
PFO closure and migraine: can it help?
This trial tests if closing a common heart defect (PFO) can improve migraine symptoms and brain function. It compares people with migraine who get the closure procedure to those without migraine.
Luoyang, HenanAges 18–60 - NCT06935799Recruiting
Freezing for 1 vs 2 minutes after Nuss surgery
This study compares how well one minute of freezing (cryoanalgesia) works versus two minutes to control pain after Nuss surgery for pectus excavatum. It will help find the best way to freeze nerves to reduce pain after surgery.
Warsaw, Wybierz WojewództwoAges 12–18 - NCT06952777Recruiting
Testing sensors to monitor babies in the womb
This study tests new sensors to check on a baby's wellbeing during the third trimester of pregnancy, as an alternative to standard monitors. You would wear a sensor on your belly to track your baby's heartbeat and movements without wires or needles.
ManchesterAges 16–50 - NCT06953622Recruiting
Migraine and PFO: A Follow-up Study
This study is for people who have migraines and a small hole in their heart called a patent foramen ovale (PFO). It will track your health over time to learn more about how these conditions are related.
BeijingAges Any age - NCT06346418Recruiting
Maternal genes and Beckwith-Wiedemann syndrome risk study
This study looks at how a mother's genes and chemical changes to DNA (called epimutations) may increase the risk of having a child with Beckwith-Wiedemann syndrome or affect a woman's ability to get pregnant and carry a baby to term. It aims to find genetic clues that could help explain these reproductive challenges.
MilanAges 18 years+ - NCT06954272Recruiting
Study of skin structure in eczema and healthy skin
This study uses special imaging to look at the structure of skin, comparing people with eczema (who have used steroid creams) to healthy volunteers. Researchers want to understand how the skin changes with eczema and its treatment.
Sheffield, South YorkshireAges 6 months+ - NCT07161908Recruiting
Remote oxygen monitoring for preterm infants with BPD
This study tests a way to monitor and adjust oxygen therapy from home for premature babies with a long-term lung condition called bronchopulmonary dysplasia. The goal is to see if remote monitoring can improve oxygen management and reduce complications.
České Budějovice, Czech RepublicAges Up to 8 months
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.