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
- NCT07253051Recruiting
Study for women with BRCA gene mutations
This study creates a platform for women who carry a BRCA1 or BRCA2 gene mutation to be followed over time. It aims to better understand and manage cancer risks associated with these mutations.
AvellinoAges 18 years+ - NCT06159166RecruitingPhase 1/Phase 2
Mirdametinib for NF1 skin bumps
This study tests an oral drug called mirdametinib to see if it can shrink skin bumps caused by NF1. If you have at least 24 of these bumps on your skin and are in decent health, you may be able to join.
Baltimore, MarylandAges 18 years+ - NCT06879912Recruiting
Study of force feedback tools in robot-assisted surgery
This trial tests new force feedback instruments in the da Vinci 5 robot during surgery. It aims to see if they help surgeons perform procedures more precisely for conditions like cancer or other diseases.
Miami, FloridaAges 22 years+ - NCT07226297Enrolling by invitationPhase 1/Phase 2
Personalized treatment for GARS1-related CMT2D
This trial tests a personalized medicine designed for a single person with a specific genetic mutation (GARS1) that causes Charcot-Marie-Tooth disease type 2D. The treatment is an antisense oligonucleotide, a custom-made molecule that targets the faulty gene.
Houston, TexasAges 13 years+ - NCT07228000Recruiting
Cancer screening and genetic services navigation for Black and Hispanic women
This study helps Black and Hispanic women ages 45-74 get both breast and colorectal cancer screenings and genetic services. It provides a navigator to guide you through the process.
Newark, DelawareAges 45–74 - NCT07227116Recruiting
Finding transferable embryos in complex aneuploidy cases
This study aims to check if embryos previously considered too abnormal (with three or more chromosomal issues) might actually be usable for transfer. It may offer new options for patients who have only these types of embryos available.
Margate, FloridaAges Any age - NCT07194070Recruiting
Registry study for hemolytic disease in pregnancy
This study tracks pregnancies affected by hemolytic disease of the fetus and newborn (HDFN). It collects information to better understand the condition and improve care. You may join if you are pregnant with a history of a prior affected pregnancy and have a current antibody that could harm your baby.
Indianapolis, IndianaAges 18 years+ - NCT06543784Recruiting
Carrier screening before pregnancy at Erasmus MC
This study looks at how carrier screening works before pregnancy. It asks healthcare workers and future parents about their thoughts on screening for genetic conditions.
RotterdamAges 18 years+ - NCT07186764Recruiting
Quality of life in women with MRKH syndrome
This study tracks quality of life and follow-up care in women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a condition where the uterus and upper vagina are underdeveloped or absent. It compares their experiences to women without MRKH to improve care.
ToulouseAges 18–50 - NCT06550687Recruiting
Studying how cancer patients like to learn about genetic results
This trial looks at the best ways to give cancer patients their genetic information before a special test called exome analysis. It aims to make sure you get the information in a way that feels right for you.
DijonAges 18 years+ - NCT06456320Enrolling by invitation
Mayo Clinic Tapestry 2.0: Multi-Omics Health Discovery
This study uses advanced testing (called multi-omics) to look at your genes, proteins, and other molecules to discover new things about health and disease. You'll need to be a Mayo Clinic patient, able to receive packages, and not have a history of blood cancer or a donor bone marrow transplant.
Scottsdale, ArizonaAges 18 years+ - NCT05653544Recruiting
Study tracks symptoms in primary mitochondrial muscle conditions
This study observes people with primary mitochondrial muscle diseases over time to better understand how symptoms change. It may help improve future care by learning patterns of muscle weakness, fatigue, and related complications.
Madrid, MadridAges 16 years+ - NCT04548817Recruiting
Registry for neurocutaneous and brain melanocytosis
This trial is a registry that collects information from people with certain pigment-related conditions affecting the skin and/or the brain. It helps doctors better understand the condition and may improve future care.
Boston, MassachusettsAges Any age - NCT06808880Recruiting
Expanding prenatal screening for single-gene disorders
This study looks at a new blood test to screen for single-gene disorders (conditions caused by changes in one gene) during pregnancy. It may help if you or your baby's father carry a genetic disorder, or if an ultrasound shows signs of a possible genetic condition.
Glendale, ArizonaAges 18 years+ - NCT06807723Recruiting
Understanding De Santo Shinawi syndrome with WAC gene changes
This study collects medical information from people who have a change in the WAC gene, which causes a rare condition called De Santo-Shinawi syndrome. It aims to better describe the symptoms and help doctors recognize it.
Clermont-Ferrand, AuvergneAges Any age - NCT07102966Recruiting
Genetic study for babies with birth defects in Texas
This study looks for genetic causes of birth defects in newborn babies. If your baby has a suspected genetic condition and other tests haven't found a clear cause, this study may help find answers.
Houston, TexasAges 1 day–3 months - NCT05765981RecruitingEarly Phase 1
Testing a gene therapy for AADC deficiency in young children
This early-stage trial tests VGN-R09b, a gene therapy, given to children with AADC deficiency who are not doing well on standard medicines. It aims to improve symptoms and quality of life by addressing the underlying cause of AADC deficiency.
Shanghai, No. 1678, Dongfang Road, Pudong New Area, ShanghaiAges 2–7 - NCT07610590Recruiting
Understanding Genetic Test Results During Pregnancy
This research study helps pregnant people understand the results of genetic tests done during pregnancy (like CVS or amniocentesis). The study follows families for one year after birth to learn how genetic counseling and test results affect decision-making and family wellbeing.
Boston, MassachusettsAges 18 years+ - NCT07029230Recruiting
Blood test during heart surgery to predict heart failure in kids
This study looks at a substance called sST2 in the blood of children having heart surgery. The goal is to see if sST2 levels can help doctors predict heart failure after surgery.
Zurich, Canton of ZurichAges Up to 18 years - NCT07015632Recruiting
Fall risk screening with sensors in Duchenne MD
This study uses a machine-learning tool (like a smart computer program) to help predict fall risk in people with Duchenne Muscular Dystrophy. It involves wearing sensors to track your movement and balance, which could help doctors create safer care plans.
Seoul, JongnoAges 10–30 - NCT06742073Recruiting
Study of H syndrome and inflammation
This study looks at the link between H syndrome and related health issues, such as inflammation or histiocytosis (a type of immune cell disorder). It helps researchers learn more about how this rare genetic condition affects the body.
Petah TikvaAges Any age - NCT05868499Enrolling by invitationPhase 1
Study follow-up for people who finished the first trial
This Phase 1 study is a follow-up “rollover” for people who already completed the 12-month visit of an earlier study. It checks what happens next after that prior study and may help doctors understand the ongoing safety and effects of the treatment.
Cincinnati, OhioAges 18 years+ - NCT06722313Enrolling by invitation
Better embryo genetic testing for couples without an affected child
This trial is testing a new, more efficient way to perform genetic testing on embryos (PGT-M) for couples who do not have a DNA sample from an affected child. It aims to help families where standard methods are difficult, such as when the carrier has no symptoms, or when the female partner has low egg reserve.
Shanghai, Shanghai MunicipalityAges Any age - NCT07332598Enrolling by invitation
Mayo Clinic precure study for prevention of blood cancers
This study aims to learn how to prevent blood cancers. You will provide samples over time so researchers can look for early signs of cancer.
Rochester, MinnesotaAges 18 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.