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
- NCT07436143Recruiting
Posture and quality of life in Duchenne muscular dystrophy
This study looks at how different body positions affect daily life and well-being in children with Duchenne muscular dystrophy. It may help find ways to improve comfort and function.
Lahore, Punjab ProvinceAges 5–9 - NCT06450171Recruiting
Multi-cancer early detection test for people at high risk
This study tests a blood-based multi-cancer early detection (MCED) screening test in people with a high risk of cancer due to inherited gene changes or strong family history. The goal is to see if this test can find cancer early.
Boston, MassachusettsAges 22 years+ - NCT05825183Recruiting
Ultrasound-guided vacuum procedure study after early pregnancy loss
This trial studies a medicine-product made from conception tissue (from an ultrasound-guided manual vacuum aspiration procedure) for people with an early miscarriage or termination. It may help researchers understand whether this approach is safe and potentially beneficial for recovery, but eligibility depends on specific medical and procedural factors.
Hong KongAges 18 years+ - NCT05776173Recruiting
Gene-modified stem cell treatment for transfusion-dependent thalassemia
This trial tests whether giving you your own (autologous) gene-modified blood stem cells can improve transfusion-dependent beta-thalassemia and its safety. It may help people who do not have a fully matched donor and need an alternative approach to care.
ShanghaiAges 6–35 - NCT07419893Recruiting
Study of TP53 gene test results
This study looks at results from people who have already had TP53 gene testing through IEO’s genetics clinic. It helps doctors learn more about how this gene relates to cancer risk.
MilanAges 18–90 - NCT06581887Recruiting
Measuring behavior and emotions in Duchenne and Becker muscular dystrophy
This study looks at how to measure behavioral and emotional challenges in boys with Duchenne or Becker muscular dystrophy, and in boys without the condition. It aims to find better ways to assess these issues, which could help improve care and treatments.
LondonAges 7–17 - NCT07102524RecruitingPhase 1/Phase 2
Gene therapy for SLC13A5 citrate transporter disorder
This trial tests a new gene therapy (TSHA-105) given through a spinal tap to treat SLC13A5 citrate transporter disorder, a genetic condition that affects the brain and body. The goal is to see if it can help improve symptoms by delivering a working copy of the gene.
Dallas, TexasAges 2–20 - NCT07380594Recruiting
Study of psychiatric symptoms in White-Sutton syndrome
This study looks at mental health symptoms in people with White-Sutton syndrome, a rare genetic condition. By answering questions, you can help doctors better understand what challenges people face and how to support them.
DijonAges 6 years+ - NCT07374913Recruiting
Study of COL4A1 and COL4A2 gene mutations
This study looks at people with a mutation in the COL4A1 or COL4A2 genes, which can cause problems in small blood vessels throughout the body. It aims to learn more about the condition and may also include family members who carry the mutation or who can serve as healthy controls.
Florence, FIAges Any age - NCT06934759Enrolling by invitation
Parents' experience of a child with a large birthmark
This study explores how parents feel and cope when their child has a large congenital melanocytic nevus, a type of birthmark. You would take part in a one-on-one interview to share your experience.
Nancy, FranceAges 18 years+ - NCT06561503Recruiting
Quality of life in inherited metabolic diseases
This study looks at how certain rare metabolic disorders affect quality of life. Researchers at Sohag University Hospital want to understand the daily challenges patients face, so they can improve care and support.
SohagAges 1 day–18 years - NCT05675722RecruitingPhase 1
Vaginal reconstruction implant test for women born without a vagina
This Phase 1 study tests a vaginal implant/reconstruction device for people born with a missing or closed-off vagina. The goal is to check safety and how well the implanted vaginal tissue construct works over follow-up visits.
Winston-Salem, North CarolinaAges 15–45 - NCT05772130Recruiting
Help family members get cancer genetic test results and counseling
This study tests a family-centered way to share cancer genetic testing results with close relatives, so more relatives get genetic counseling and testing. It may help your eligible family members understand their risk and get the right next steps.
Duarte, CaliforniaAges 18 years+ - NCT05837780Enrolling by invitation
Different braces techniques for babies with a cleft lip and palate
This trial compares two different techniques for making a molding device (a baby “nasal/cheek shape” support) for newborns with a cleft lip and palate on one side. It may help your baby get a better starting nose and lip shape during early treatment.
MinyaAges 1 week–1 month - NCT07348926Recruiting
Family well-being & independence in rare genetic disorders
This study looks at how a child's ability to function independently affects the well-being of their family. It is for caregivers of young children (0–4 years) with rare genetic disorders who have been in physiotherapy for at least 6 months.
IstanbulAges 18–65 - NCT07342933Recruiting
Outcomes of children who had prenatal exome testing
This study looks at children who had a special genetic test called exome sequencing before birth, based on ultrasound findings. It helps researchers understand how the results relate to the children's health and development.
StrasbourgAges birth–3 years - NCT07338370Recruiting
PGE2 levels and heart duct closure in preterm babies
This trial measures a substance called prostaglandin E2 (PGE2) in preterm babies to see if it can predict whether a heart blood vessel (ductus arteriosus) will close on its own or need treatment. This could help doctors decide when to use medication to close the vessel.
Cairo, AbbasiaAges 1 day–1 week - NCT06788808Recruiting
Ultrasound study of fetal brain development in pregnancy
This study uses ultrasound to examine fetal brain and spine development in pregnant women. It compares scans from pregnancies where a brain or spine issue is suspected with those from healthy pregnancies to improve understanding and diagnosis.
Bologna, BolognaAges 18–45 - NCT07330830Recruiting
Genetics and fatty liver disease in Caribbean and Indian Ocean populations
This study looks at how a specific gene (PNPLA3) might affect non-alcoholic fatty liver disease (MASLD) in people from Guadeloupe, French Guiana, and Réunion Island. It aims to understand genetic differences that could explain why some people get the disease.
CayenneAges 18 years+ - NCT06489067Recruiting
Thyroid Health Study in RASopathies (ECORAS)
This study looks at the thyroid (a small gland in your neck that controls energy) in people with RASopathies (genetic conditions like Noonan syndrome). They will use an ultrasound to check the shape and structure of the thyroid and test your thyroid's function.
BariAges 3–25 - NCT07319299Enrolling by invitation
Liver cancer screening study for people with chronic liver disease
This study tests a new way to screen for liver cancer in people with chronic liver disease, especially those with cirrhosis or significant liver scarring. It uses blood tests and imaging to catch cancer early.
Bangkoknoi, BangkokAges 18 years+ - NCT06054230Enrolling by invitation
Genetic sequencing for fetal structural problems
This study offers genetic sequencing to find the cause of certain serious fetal problems, such as structural anomalies, severe growth restriction, or unexplained pregnancy loss after 14 weeks. It aims to help families understand why the issue occurred and guide future care.
San Francisco, CaliforniaAges 18–64 - NCT07296900Recruiting
International genetic obesity registry study
This study is creating a worldwide registry for people with genetic forms of obesity. It aims to learn more about these conditions and may help develop better treatments in the future.
UlmAges Any age - NCT07272200Recruiting
Genes and alcohol in liver cancer: a study
This study looks at how your genes and alcohol use together affect the risk of liver cancer. It may help find ways to prevent cancer in people with fatty liver disease or moderate alcohol intake.
Milan, MilanoAges 45–75
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.