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
- NCT06773026RecruitingPhase 2
Sodium Phenylbutyrate for MCADD in Children and Adults
This trial tests a medicine called sodium phenylbutyrate (ACER-001) to see if it helps people with MCADD, a genetic condition that affects how your body breaks down fats. If you have MCADD and the common gene change, you might be able to join.
Pittsburgh, PennsylvaniaAges 4 years+ - NCT02967822Recruiting
Study of genes in MRKH syndrome and related families
This study looks at DNA (your genes) to better understand Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. It may help researchers learn more about the condition, and it can include both people with MRKH and healthy family relatives.
ParisAges Any age - NCT05849155Recruiting
Talking study for teens with inherited cancer risk
This study looks at how parents and children communicate after learning about an inherited (genetic) cancer risk. It may help researchers find better ways to support families in these conversations.
Memphis, TennesseeAges 10–24 - NCT05289245Recruiting
Registry study for Chinese people with cystic fibrosis
This study keeps a national record of people diagnosed with cystic fibrosis (CF) in China. It aims to better understand CF over time and may help future care by improving how patients are tracked and studied.
Beijing, Beijing MunicipalityAges Any age - NCT06465550RecruitingPhase 1
Gene therapy for beta-thalassemia in children and teens
This trial tests a new gene therapy (BD211) for children and teens with severe beta-thalassemia who need regular blood transfusions. The treatment uses your own blood stem cells, modified with a working gene, to help your body make healthy red blood cells and reduce the need for transfusions.
Guangzhou, GuandongAges 3–35 - NCT06474104Recruiting
Blood and skin sample collection for mitochondrial disease
This study collects blood and skin samples from people with primary mitochondrial disease and from healthy volunteers. The samples will help researchers better understand these diseases and develop future treatments.
Ramat Gan, IsraelAges 3–85 - NCT03793062Recruiting
Study genes and wound biology in chronic ulcers
This study looks at how genes and “chemical tags” on cells may contribute to chronic wounds that don’t heal. Your information and possibly samples from the largest wound could help researchers understand why ulcers last so long.
Pittsburgh, PennsylvaniaAges 18–100 - NCT03528525Recruiting
Study of breathing-related rare genetic diseases in Chinese children
This registry study collects and stores samples from children with breathing-related rare genetic (inherited) diseases to learn more over time. It may help researchers better understand these conditions and improve future care, especially through long-term follow-up.
Beijing, Beijing MunicipalityAges 1 month–18 years - NCT06824987RecruitingPhase 2
Study of AZD2373 for APOL1-related kidney disease
This trial tests an experimental drug (AZD2373) for people with kidney disease caused by APOL1 gene changes. It aims to find the safest and most effective dose to slow kidney damage.
Alabaster, AlabamaAges 18–65 - NCT02743845Recruiting
Find genetic answers for rare, possibly inherited conditions
This trial looks for gene changes that may explain rare conditions, even when the diagnosis is not fully understood. It may help families who have a rare condition or who are related to someone with one.
Boston, MassachusettsAges Any age - NCT02257892Recruiting
Study of rare immune system genetic disorders
This study looks for genetic causes of immune problems, such as unusually frequent infections, abnormal allergies, or autoimmune or inflammation conditions. It may help by improving how doctors understand these disorders and by matching families with possible genetic diagnoses.
Bethesda, MarylandAges 3–99 - NCT05754450RecruitingPhase 3
Extension study for AVTX-803 in LAD type II
This trial is a follow-up study testing whether AVTX-803 continues to be safe and effective for people with Leukocyte Adhesion Deficiency type II (LAD II). If you already took part in an earlier AVTX-803 LAD II study, this may be the next step while researchers monitor benefits and side effects.
Rochester, MinnesotaAges 6 months–75 years - NCT07698158Recruiting
Growing Well Study: healthy growth study for young children
This study looks at how children aged 6 months to 4 years grow and develop. It involves families in Leeds, Doncaster, or East London. Researchers want to understand what supports healthy growth in early childhood.
Doncaster, West YorkshireAges 6 months–4 years - NCT03639285Recruiting
Study of inherited leukodystrophy symptoms and outcomes
This study follows people with inherited leukodystrophies to better understand how the condition is diagnosed and how it changes over time. It may help doctors improve testing and care planning by collecting clinical and imaging information.
Salt Lake City, UtahAges Any age - NCT07126262RecruitingPhase 2
Vosoritide for growth in infants with hypochondroplasia
This study tests a daily injection called vosoritide to see if it helps children with hypochondroplasia grow taller. It is for babies and toddlers up to 35 months old who are shorter than average for their age.
Phoenix, ArizonaAges birth–3 years - NCT05745532RecruitingEarly Phase 1
Autologous stem cell treatment to improve beta thalassemia major
This early-phase trial tests a new way to restore working blood-making cells using your own stem cells for people with transfusion-dependent beta thalassemia major. The goal is to improve safety and blood results, and possibly reduce problems from the disease.
Shenzhen, GuangdongAges 8–16 - NCT03154697Recruiting
Study for parents of children with Smith-Magenis syndrome and sleep issues
This study builds a database about people with Smith-Magenis syndrome and their sleep problems. It wants information from the child’s parent or legal guardian to better understand sleep disturbances.
Washington D.C., District of ColumbiaAges 3–65 - NCT02927158Recruiting
Genetic testing study for Amish and Mennonite community members
This study uses genetic testing to learn more about the causes of health conditions in Amish and Mennonite people. It may help researchers understand patterns in this community and improve future care.
Pittsburgh, PennsylvaniaAges Up to 100 years - NCT02995538Recruiting
Registry for people with suspected genetic nerve disorders
This registry collects health and family history from people who may have an inherited (genetic) neurological condition. It helps researchers understand what genetic causes are involved and may lead to better future care.
Pittsburgh, PennsylvaniaAges Any age - NCT02171845Recruiting
Study of how the body controls DNA “jumping genes” before birth
This study looks at how the body stops “jumping genes” (transposons) during fetal development, specifically in male fetuses. Families may be able to participate if the fetus is obtained from a planned pregnancy termination and meets the timing and screening requirements.
DijonAges 2 months–9 months - NCT06858397RecruitingPhase 1/Phase 2
Study of a new drug for Fabry disease
This study tests a new investigational drug called HM15421/GC1134A for people with Fabry disease. It aims to see if the drug is safe and tolerable, and to learn how well it works. You may be eligible if you have Fabry disease with symptoms, have not had treatment for at least 6 months, and your kidneys are functioning well.
Los Angeles, CaliforniaAges 18 years+ - NCT06083220Recruiting
School readiness in preschool children with cerebral palsy
This study looks at how ready preschool-aged children with cerebral palsy (affecting one side of the body) are for school. It will help understand what skills they may need extra support with.
Frisco, TexasAges 3 years–5.9 years - NCT07699510Recruiting
Learning about TNPO2 gene disorders
This study aims to learn more about health problems caused by changes in the TNPO2 gene. It is a natural history study that will collect information to help understand and care for people with these rare genetic conditions.
Berlin, State of BerlinAges Any age - NCT04427163Recruiting
Study of health differences using blood and data profiles
This study looks at how people’s health and disease risk show up in multiple types of information collected together (like blood-related measures and other data). It may help researchers understand what patterns are linked to health versus future disease.
OlomoucAges 18–68
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.