Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,767 recruiting studies in this area right now.
By phase
- Not applicable2,684
- Phase 2280
- Phase 1241
- Phase 3210
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)38
- 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
- Massachusetts108
- Arizona87
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,767 total
- NCT03417856Enrolling by invitation
Study skin and blood signs in ichthyosis
This study looks at “skin and blood biomarkers,” meaning measurable signs in the body, in people with ichthyosis to better understand the condition. It may help researchers find ways to track disease activity and evaluate future treatments.
Chicago, IllinoisAges 1–60 - NCT03371641Recruiting
Study of alcohol exposure effects in unborn babies
This study looks at unborn babies exposed to alcohol during pregnancy and compares them with babies not exposed. Researchers test a pregnancy blood marker to see whether it may relate to early brain changes in the baby.
RouenAges 18 years+ - NCT03475173Recruiting
Non-invasive eye scans for healthy and specific retinal problems
This study tests new, non-invasive ways to measure how the retina (the light-sensing part of the eye) is structured and how well it works. It may help researchers better understand certain vision disorders and how to track them, without surgery or injections.
Iowa City, IowaAges 18–99 - NCT03353584Recruiting
Virtual reality for pain relief during sickle cell pain crises
This trial tests whether a virtual reality (VR) experience can help reduce pain during a sickle cell “vaso-occlusive crisis,” which is an episode of sudden, severe pain. It’s offered alongside the care team’s usual pain management to see if VR makes pain feel better.
Memphis, TennesseeAges 6–25 - NCT03478761Recruiting
Registry for people with CYP24A1 vitamin D–related kidney stone risk
This is a research registry for people who have a confirmed CYP24A1 genetic change tied to high calcium and kidney stone problems. It helps researchers better understand who is affected and may guide future studies or care approaches.
Rochester, MinnesotaAges Any age - NCT03206099Recruiting
Genetic testing study for people linked to other NIH research
This study collects and sequences (reads) your DNA to help researchers understand health and disease. You may be invited because you are connected to another NIH study, and you must agree to testing, sample storage, and sharing de-identified genetic data for future research.
Washington D.C., District of ColumbiaAges 1 day–100 years - NCT03291223Recruiting
Gaucher disease patient survey to improve outcomes
This study looks at how Gaucher disease affects patients’ daily life and health outcomes through a survey. Your answers could help improve future care and treatments by showing what outcomes matter most.
Lexington, MassachusettsAges Any age - NCT03193476Recruiting
XLH patient registry for people with X-linked hypophosphatemia
This registry collects information about people diagnosed with X-linked hypophosphatemia (XLH). It helps researchers better understand the condition and may support future studies by tracking patients over time.
BrusselsAges Any age - NCT03176836Enrolling by invitation
TP53 mutation imaging study for Li-Fraumeni syndrome
This study takes special body images (MRI) in people from families with Li-Fraumeni syndrome, especially those who carry a TP53 gene mutation. The goal is to see whether MRI can help spot problems earlier in a higher-risk group.
Toronto, OntarioAges Up to 18 years - NCT03138863Recruiting
FETO surgery to help a baby’s lungs in left diaphragmatic hernia
This trial studies a specialized pregnancy procedure (FETO) done to help babies with a defect in the diaphragm called congenital diaphragmatic hernia (CDH) grow better lungs before birth. It may help by improving lung development, based on how severe the baby’s lung underdevelopment looks on ultrasound, and it requires close follow-up at the study hospital.
Miami, FloridaAges 18–50 - NCT03049254Recruiting
Registry and blood/tissue study for certain sudden heart death causes
This study builds a registry and collection of samples to better understand families affected by sudden heart death and related heart rhythm problems that are not clearly caused by a heart attack. It may help researchers identify patterns and improve future care, and it offers a way for patients and families to contribute to research.
Rochester, MinnesotaAges Any age - NCT03279094RecruitingPhase 1
Testing a half-matched bone marrow transplant for sickle cell
This early-phase study tests whether a “half-matched” donor bone marrow transplant, with special medicines to calm the immune system before transplant, can improve outcomes for people with sickle cell disease. It may help high-risk patients who have frequent complications and don’t have a fully matched donor.
Duarte, CaliforniaAges 1–30 - NCT03088020Recruiting
CCHS patient registry for people with PHOX2B gene changes
This study is a registry, meaning it collects health information to better understand congenital central hypoventilation syndrome (CCHS). It enrolls only people whose CCHS has been confirmed by a PHOX2B gene test.
Chicago, IllinoisAges Any age - NCT03109197Recruiting
SUDC registry to study sudden unexplained child deaths
This registry collects information (and sometimes DNA) from families affected by sudden unexplained death, to help researchers learn possible underlying causes. If you qualify, you may be contacted about participating in a DNA study or completing family information.
New York, New YorkAges 11 months–100 years - NCT03050268Recruiting
Study of childhood cancer risk in families
This study looks at inherited (family) risk for childhood cancers, including families with early cancers or known cancer risk conditions. It may help researchers understand why some children get cancer and improve future risk detection and care.
Memphis, TennesseeAges Any age - NCT03149341Enrolling by invitation
MRI and computer-heart simulations for heart disease
This study uses MRI scans and computer simulations to learn more about how the heart and blood flow work in people with certain heart or lung conditions. It may help researchers better understand heart problems and improve future care.
Palo Alto, CaliforniaAges Any age - NCT03065686Recruiting
Study genes in cleft lip or palate without a known cause
This study looks for genetic reasons behind cleft lip and/or cleft palate when the cause is not known. The results may help researchers understand risk factors and improve future care.
AmiensAges Any age - NCT03102554Enrolling by invitation
Study genes in sex development differences and hypospadias
This study looks for genetic causes of differences in how a baby or child’s sex organs develop, including hypospadias. You may be able to join if doctors can’t find a reason using standard testing.
Boston, MassachusettsAges Any age - NCT03128996RecruitingPhase 1/Phase 2
Bone marrow transplant with lighter chemo for non-cancer illnesses
This early-phase study tests a safer “lighter” conditioning chemo plan before a bone marrow transplant for people with non-cancer blood and immune disorders. It aims to reduce transplant risk while using donor marrow that does not match perfectly in the HLA type.
New Haven, ConnecticutAges 1 day–21 years - NCT03107520RecruitingEarly Phase 1
Ultrasound during hip surgery to check blood flow
This early-phase study tests a special ultrasound with an added contrast medicine (Lumason) during surgery for babies with developmental dysplasia of the hip (DDH). It aims to better see blood flow at the time of surgery, which may help guide and improve care.
Philadelphia, PennsylvaniaAges 4 months–2 years - NCT03209583Recruiting
Test of fast-pacing therapy for congenital heart rhythm issues
This trial studies whether a device-based fast pacing therapy (called ATP) can better treat certain rapid heart rhythm problems in people born with a heart condition. It may help prevent or reduce episodes of atrial (upper-chamber) arrhythmias that occur despite having a pacing/defibrillator device.
Los Angeles, CaliforniaAges Any age - NCT03243019RecruitingPhase 2
Rapamycin for lymphatic malformations in children
This trial studies whether rapamycin can reduce problems caused by cervico-facial or chest (mediastinal) lymphatic malformations in children. It may help with pain and swallowing or breathing difficulties when standard “curative” treatment isn’t possible.
LilleAges Up to 18 years - NCT03233646Recruiting
Retina scans in memory and nerve disorders
This study uses pictures of the back of your eye (retinal imaging) to look for differences in people with neurodegenerative diseases and compares them with people without these conditions. It may help researchers understand eye changes that could connect to brain or nerve health.
Durham, North CarolinaAges 18 years+ - NCT03058185Recruiting
Study of people with LMNA or EMD gene mutations
This study follows people who have a confirmed harmful (pathogenic) mutation in the LMNA and/or EMD gene. It aims to better understand these conditions through regular follow-up and health information collection, which may help improve future care.
Angers, AngersAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,767 recruiting medical genetics studies from the U.S. registry right now, out of 5,497 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.