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
- NCT04989751Enrolling by invitation
Study of gene patterns in limb-girdle muscle weakness
This study looks at how specific gene changes relate to the pattern of muscle weakness in people with limb-girdle muscular dystrophy (LGMD). It may help doctors better understand the condition and improve future care.
ShanghaiAges 10 years+ - NCT04760522Recruiting
Genetic testing plan for patients with unclear disease cause
This study helps decide treatment planning based on genetic testing for people whose disease cause is unclear but may be genetic. It’s meant to support a “genomic health” approach, where results guide next steps in care.
TübingenAges Any age - NCT05600764Recruiting
Study of how TRPV4 nerve disease develops over time
This study looks at the natural history of TRPV4-related neuropathy—how it starts and changes over time. It may help doctors better understand the condition, especially for people with TRPV4 gene changes.
Baltimore, MarylandAges 3–80 - NCT04261127Recruiting
Testing a genetic tool to diagnose recessive ataxia
This study checks how well a computer algorithm (called RADIAL) can find the cause of autosomal recessive cerebellar ataxia using genetic information. It may help confirm diagnoses when the genetic cause is still unknown and other causes have already been ruled out.
BesançonAges 5 years+ - NCT05558371Recruiting
International study for people with CDKL5 disorder
This study is for anyone diagnosed with CDKL5 disorder who can be seen at participating clinics or is already listed in an international CDKL5 registry. The goal is to help researchers better understand the condition and support future research.
Los Angeles, CaliforniaAges 1 month–100 years - NCT03650829Recruiting
IVF baby study for pregnancies in Guangzhou
This study looks at babies born from IVF (assisted reproductive technology) pregnancies. It may help the hospital better understand outcomes for families who plan to deliver there and stay in Guangzhou for years.
Guangzhou, GuangdongAges Up to 18 years - NCT05446571RecruitingPhase 3
Letermovir in pregnancy versus valaciclovir for fetal CMV
This trial tests whether letermovir can treat a baby’s early (first-trimester) congenital CMV infection in pregnancy, compared with the standard drug valaciclovir. The goal is to reduce serious effects from CMV while monitoring safety and pregnancy outcomes.
ParisAges 18 years+ - NCT03303716Recruiting
Study of the health history of people with ASXL disorders
This study looks at your medical history and health changes over time in people diagnosed with an ASXL-related disorder. It may help researchers better understand how these conditions progress and what needs to be measured in future treatments.
Los Angeles, CaliforniaAges Any age - NCT02447861Recruiting
Study of behavior differences in 3q29 deletion or duplication
This study looks at how brain development and behavior may differ in people with a 3q29 deletion or 3q29 duplication. It may help researchers understand what to expect and how these conditions affect daily life.
Piscataway, New JerseyAges Any age - NCT02918032Recruiting
Registry study for triglyceride storage heart and blood vessel disease
This is a registry study that collects health information from people diagnosed with neutral lipid storage disease (NLSD) or triglyceride deposit cardiomyovasculopathy (TGCV). It may help researchers better understand the condition and improve future care plans.
Stanford, CaliforniaAges Any age - NCT04918173RecruitingPhase 3
Atenativ for people with inherited low antithrombin during surgery or birth
This trial tests whether Atenativ (an antithrombin treatment) lowers dangerous blood clots during planned surgery or during late pregnancy/delivery. It’s for people with a rare inherited blood-clotting condition called congenital antithrombin deficiency.
Washington D.C., District of ColumbiaAges 12–80 - NCT04731857Recruiting
Genetic testing results study for rare diseases
This study looks at how well different genetic tests (whole exome/genome sequencing and standard genetic tests) work for diagnosing rare genetic diseases and inherited cancer conditions. It may help confirm which testing approach provides the clearest results for families.
TübingenAges Any age - NCT04738708Recruiting
Phone vs in-person genetic counseling for cancer risk
This study compares two ways of getting genetic counseling—by phone/video or in person—for people who may have hereditary cancer syndromes like HBOC or Lynch syndrome. It may help find which counseling approach works best for understanding results and next steps.
SingaporeAges 21 years+ - NCT04031508Enrolling by invitationPhase 2
Omega-3 in an IV for newborns with breathing circulation problems
This trial tests whether giving an omega-3 fat medicine through an IV (along with standard care) improves breathing and blood-flow problems in newborns with congenital diaphragmatic hernia and persistent pulmonary hypertension. It may help reduce strain on the lungs and heart by targeting inflammation and blood-vessel changes.
Mexico City, Mexico CityAges 1 hour–2 weeks - NCT04109846Recruiting
Embryo transfer using aneuploid or mosaic embryos during pregnancy
This trial looks at pregnancy and baby outcomes when embryos that have chromosome differences (aneuploidy or mosaic embryos) are transferred, especially when no other embryos are available. It may help people understand the risks and expected outcomes in situations where options are limited.
Sunnyvale, CaliforniaAges 18–55 - NCT04661072Recruiting
Study genes and cancer risk in uterine birth differences
This study looks at how genetic factors and environment may relate to cancer risk in people with uterine birth differences. It also aims to improve clinical care by learning what patterns show up in real-world patients.
New Haven, ConnecticutAges 13 years+ - NCT03900780Recruiting
Genetic testing of embryos for repeat IVF failure
This study tests embryos before pregnancy using genetic screening to look for extra or missing chromosomes, in people who have had repeated IVF embryo transfers without success. It may help reduce the chance of transferring embryos that are unlikely to result in a healthy pregnancy.
LeuvenAges 18–40 - NCT03876847Enrolling by invitation
Study genetics in people with spontaneous artery tears
This study looks for genetic (inherited) reasons some people develop SCAD, a sudden tear in a heart artery. It compares people with SCAD to people without it and may help doctors recognize risk and causes.
Ages Any age - NCT04419896Enrolling by invitation
Patient registry for people who had genetic testing
This registry collects past and ongoing health and genetic testing information from adults who have had germline or other genetic/blood biomarker tests. It helps researchers learn patterns that may improve cancer care in the future.
Redding, CaliforniaAges 18 years+ - NCT04635891Recruiting
Study motor function tests in FSHD
This trial studies how well certain physical/movement tests work in people with facioscapulohumeral muscular dystrophy (FSHD). It may help clinicians measure changes more accurately and tailor care over time.
Los Angeles, CaliforniaAges Any age - NCT04286360Recruiting
Study blood findings in children with genetic rasopathies
This study looks at blood and other hematologic (blood-related) findings in children who are newly diagnosed with certain genetic conditions called rasopathies. It may help doctors understand what blood changes are common early on and how to monitor them.
AngersAges Up to 15 years - NCT04586400Recruiting
Study for chromosome 9p deletion syndrome
This study looks at people who have “9p minus” syndrome, meaning part of chromosome 9 is missing. It aims to understand how genetic differences may affect symptoms, and it may include family members for comparison.
St Louis, MissouriAges Any age - NCT04569149Recruiting
Registry for very small-bodied, low-head-growth syndromes
This is a registry (a secure list of patients) for people with rare conditions that cause very small size and a smaller-than-usual head from early life. It helps researchers learn more about these conditions and how they vary from person to person.
Wilmington, DelawareAges Any age - NCT04627428RecruitingPhase 1/Phase 2
Stem-cell–made eye tissue transplant for dry macular degeneration
This early-stage study tests whether a stem-cell–derived transplant to the back of the eye is safe and tolerable in people with dry age-related macular degeneration (AMD). If you qualify, you may receive the transplant and have close follow-up to watch for side effects.
Beverly Hills, CaliforniaAges 55 years+
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.