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
- NCT05954455Recruiting
Studying speech and swallowing development in children with SMA type 1
This study looks at how speech, communication, and swallowing (“bulbar function”) develop in babies and children with SMA type 1. It aims to better understand what to expect over time for children who start approved SMA treatments early.
LondonAges birth–18 years - NCT06688838Enrolling by invitation
JAK inhibitor for Blau syndrome
This trial tests a new oral drug that blocks inflammation in people with Blau syndrome, a rare genetic condition causing joint, eye, and skin problems. The goal is to see if the drug can reduce symptoms and improve quality of life.
Wuhan, HubeiAges Any age - NCT05947864Recruiting
Measles immunity monitoring after bone marrow transplant
This study checks how well adults stay protected against measles after they receive a donor bone marrow transplant. It helps doctors understand measles immune status and may guide future protection for transplant recipients.
LyonAges 18–75 - NCT07364526Recruiting
Genetic screening for embryos in egg donation
This trial tests a non-invasive genetic screening method for embryos to check for chromosomal abnormalities. It aims to improve pregnancy outcomes for women who receive donated eggs.
AlicanteAges 18–50 - NCT06617013Recruiting
GERD in children with cystic fibrosis
This study looks at GERD (reflux) in children with cystic fibrosis. It aims to understand how common it is and how it affects them, which could lead to better care.
Durham, North CarolinaAges 2–18 - NCT06601829Recruiting
Liver and kidney disease study in children
This study looks at children with congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. It aims to learn more about these conditions and how they affect children.
SohagAges Any age - NCT06565572Enrolling by invitationEarly Phase 1
Antisense drug for PCARP disease caused by FLVCR1 mutation
This trial tests a new drug called an antisense oligonucleotide (a type of genetic medicine) for people with a specific form of inherited eye disease called PCARP, which is caused by changes in the FLVCR1 gene. The goal is to see if the drug can slow or stop vision loss.
Aurora, ColoradoAges Any age - NCT06552052Recruiting
Natural history study of genetic blood vessel disease
This study tracks the health of people with a confirmed ACTA2 gene change over time to better understand the disease. It may help researchers learn how to improve care for this condition.
Boston, MassachusettsAges 4 weeks+ - NCT06549218Recruiting
Genetic newborn screening for rare diseases
This study tests a new way to screen newborns for rare genetic diseases using a blood sample. It aims to find treatable conditions early so that babies can get care sooner.
DijonAges Up to 2 years - NCT06512571Recruiting
Heart changes in Fabry disease: an observational study
This study looks at people with Fabry disease, a genetic condition that can cause the heart muscle to thicken. Researchers want to understand how the heart's blood vessels change over time, which may help improve care for Fabry disease.
BeijingAges 18 years+ - NCT01689584Recruiting
Study of genetic variants in cancer families
This study looks at how a specific DNA genetic change (variant) runs within cancer families. It may help researchers better understand cancer risk and improve genetic testing and interpretation.
Bastia, CorsicaAges 18 years+ - NCT06503367Recruiting
Observation study for children 0-5 with LAMA2 muscular dystrophy
This study follows young children with LAMA2-related congenital muscular dystrophy to learn more about the disease. It does not test a new treatment, so it may help families understand the condition better and prepare for future trials.
Los Angeles, CaliforniaAges Up to 5 years - NCT06018519Recruiting
Measuring outcomes for creatine transporter deficiency
This study aims to find the best ways to measure how creatine transporter deficiency (CTD) affects people. It includes both males and females with CTD, as well as healthy volunteers, to compare results and develop better tests.
BronAges 2–60 - NCT06491251Recruiting
Varicocele surgery for unexplained infertility in men
This trial tests whether surgery to remove a varicocele (enlarged veins in the scrotum) can help men with unexplained infertility and a normal sperm count become fathers. It's for men who have no other known cause of infertility.
Kafr ash ShaykhAges 18–45 - NCT06485661RecruitingEarly Phase 1
Captopril for heart health in Duchenne muscular dystrophy
This trial tests a heart medication called captopril in people with Duchenne muscular dystrophy who already have some early heart muscle changes. The goal is to see if it can help protect the heart.
CairoAges 6 years+ - NCT06471842Recruiting
Eating issues in kids with metabolic diseases on special diets
This trial studies eating disorders in young children with certain inherited metabolic diseases that require a special diet. It aims to understand how often these eating problems happen and what they look like.
ParisAges 1–6 - NCT06456034Recruiting
Support program for parents of babies with serious diagnosis
This study tests a program to support parents whose baby has a severe health problem found before or just after birth. The program focuses on palliative care and comfort, whether the baby lives or not.
BrusselsAges 18 years+ - NCT07307469Enrolling by invitation
Extended access to ZVS101e for BCD patients
This trial offers compassionate use of the gene therapy ZVS101e for people with Bietti crystalline dystrophy (BCD) who were in the control group of an earlier study. It aims to give extended treatment access to those who didn't receive the experimental therapy before.
Beijing, Beijing MunicipalityAges 18 years+ - NCT07465263RecruitingPhase 3
Study of SYH2053 Injection for High Cholesterol in HeFH
This study tests a new injection called SYH2053 for people with HeFH, a genetic condition that causes very high cholesterol. It looks at whether the injection can safely lower LDL cholesterol when added to standard statin therapy.
Beijing, Beijing MunicipalityAges 18 years+ - NCT06382636Recruiting
Helping pregnant people make decisions about genetic testing
This study is for pregnant people who were offered prenatal genetic testing. It aims to help them make informed decisions about these tests, with the goal of improving pregnancy outcomes.
Cleveland, OhioAges 18–50 - NCT06380192Recruiting
Genetic Epilepsy and Development: A Natural History Study
This study looks at how a specific type of epilepsy with developmental challenges progresses over time. By reusing medical records, the researchers hope to learn more without extra hospital visits.
AmiensAges Any age - NCT05732987Recruiting
Study genetics in inflammatory skin diseases involving neutrophils
This study looks at genetic differences in people with certain inflammatory skin diseases that involve a specific type of immune cell (neutrophils). Your participation may help researchers better understand why these conditions happen.
BaselAges 18–100 - NCT06356545Recruiting
Study of children with chronic diarrhea in China
This study looks at children with ongoing diarrhea to better understand the causes and find better ways to diagnose and treat it. It will use advanced testing to learn more about the condition.
Shanghai, Shanghai MunicipalityAges 1 month–3 years - NCT06354790Recruiting
LAMA2-related dystrophy natural history study in children
This study follows children with LAMA2-related muscular dystrophy to learn how the condition changes over time. It does not test a new treatment, but helps researchers understand the disease better.
GarchesAges 2–15
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.