Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy36
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)29
Leading sponsors
- Assistance Publique - Hôpitaux de Paris57
- Mayo Clinic39
- Boston Children's Hospital38
- National Institute of Allergy and Infectious Diseases (NIAID)38
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Children's Hospital Medical Center, Cincinnati31
- Hospices Civils de Lyon29
- Children's Hospital of Philadelphia23
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
Where studies are running
- California324
- Maryland160
- Alabama133
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT07447557RecruitingPhase 1/Phase 2
Gene therapy study for Charcot-Marie-Tooth type 4J (CMT4J)
This trial tests a gene therapy medicine (ELP-02) given through a spinal tap for children and young adults with a specific genetic form of CMT (CMT4J). It aims to slow or stop the disease from getting worse.
Palo Alto, CaliforniaAges 3–20 - NCT07446400RecruitingPhase 1
Drug interaction study for repinatrabit
This trial tests how repinatrabit interacts with common medications like birth control, metformin, and others. It helps doctors understand safe dosing and potential side effects.
Melbourne, VictoriaAges 18–55 - NCT07445919RecruitingPhase 2
Testing SM17 for moderate-to-severe eczema
This trial tests an investigational drug called SM17 for people with moderate-to-severe atopic dermatitis (eczema). It aims to see if SM17 can reduce itching and skin symptoms when topical treatments haven't worked well enough.
BeijingAges 18–70 - NCT07450664Enrolling by invitation
Observational study of VYKAT XR for Prader-Willi syndrome
This study follows people with Prader-Willi syndrome who are already taking or starting VYKAT XR, including those switching from an earlier version of the drug (DCCR). It aims to understand how the treatment works in everyday life.
Phoenix, ArizonaAges 4 years+ - NCT01950624Recruiting
DS-Connect registry for people with Down syndrome
This is a study registry that collects information from people with Down syndrome (or certain forms like mosaic or partial trisomy 21) and their families. It helps researchers learn about health and needs over time and makes it easier to contact people for future studies.
Aurora, ColoradoAges Any age - NCT06769529Recruiting
Study of adults with congenital heart disease
This study follows adults born with a heart condition to see how they do over time, whether they had surgery or not. It aims to learn more about their health journey.
BolognaAges 18 years+ - NCT06433401Recruiting
Structured transition care for teens with heart disease
This study tests a structured transition care model to help teenagers with congenital heart disease move from pediatric to adult care. It aims to make the process smoother and improve your health outcomes.
Ankara, Ankara YenimahalleAges 16–20 - NCT06796751Recruiting
Better DNA testing for unclear genetic results
This study uses a new, advanced DNA sequencing method (long-read sequencing) to try to clarify unclear or incomplete genetic test results. If you or a family member have had genetic testing that left unanswered questions, this trial may help find more definite answers.
Bologna, BolognaAges 4 weeks+ - NCT06802016Recruiting
Study of Chinese congenital bicuspid aortic valve
This study looks at people with a bicuspid aortic valve (a valve with two flaps instead of three) in Chinese patients. It collects information about this condition to better understand it.
Shanghai, Shanghai MunicipalityAges 14–60 - NCT06550219Recruiting
Using a face mask breathing support in premature babies with breathing trouble
This study tests whether delivering breathing support through a soft face mask (nasal non-invasive ventilation) can help premature babies who are having trouble breathing. Doctors will also use ultrasound to monitor their lungs.
AlexandriaAges 1 hour–1 day - NCT07435129RecruitingPhase 2
Study of apitegromab for people with FSHD
This study tests whether a drug called apitegromab can help improve muscle function in people with facioscapulohumeral muscular dystrophy (FSHD). It is for adults aged 18-60 who have mild to moderate symptoms and can walk or run 10 meters in 5 seconds or less.
Austin, TexasAges 18–60 - NCT07441876RecruitingPhase 2/Phase 3
Comparing a new drug to vosoritide for children with achondroplasia
This trial tests a new medicine, BMN 333, against an existing one (vosoritide) to see if it helps children with achondroplasia grow. It's for kids who haven't used these treatments before.
Oakland, CaliforniaAges 2–17 - NCT07438405RecruitingPhase 2
Long-term safety study of AMG 732 for thyroid eye disease
This trial tests the long-term safety and effectiveness of AMG 732 for people with moderate-to-severe thyroid eye disease who have already completed an Amgen study of this drug. It allows continued treatment without needing immediate eye surgery.
Little Rock, ArkansasAges 18–99 - NCT07444008Recruiting
BioAmicus Complete for infant digestive and skin issues
This study tests if BioAmicus Complete, a probiotic blend, can help babies with colic, reflux, diarrhea or constipation, and food allergy-related skin problems. Eligible babies are 1 to 4.5 months old, breastfed or formula-fed, and whose parents speak Russian.
Saint PetersburgAges 1 month–5 months - NCT07437105RecruitingPhase 1
Healthy volunteer study of VX-272 safety
This study tests a new investigational medicine called VX-272 in healthy volunteers. Researchers want to check its safety and how it moves through the body, so you would not have the condition the medicine is being developed for.
Tempe, ArizonaAges 18–55 - NCT07441395RecruitingPhase 2
Study of soquelitinib for moderate to severe eczema
This trial tests an experimental pill called soquelitinib for people with moderate to severe eczema (atopic dermatitis). It aims to see if the drug can reduce symptoms like itching and skin inflammation.
South San Francisco, CaliforniaAges 18 years+ - NCT07439887RecruitingPhase 1/Phase 2
Study of an injection for Stargardt disease
This trial tests a single injection of a new medicine, RTx-021, into the eye for people with Stargardt disease. The goal is to see if it is safe and to find the right dose.
Bakersfield, CaliforniaAges 16 years+ - NCT07437404RecruitingPhase 3
Testing SCT800 for previously untreated severe hemophilia A
This study tests a new medicine called SCT800 for boys with severe hemophilia A who have never been treated with factor VIII before. The goal is to see if it works safely to prevent bleeding.
Beijing, Beijing MunicipalityAges Up to 6 years - NCT06806605Recruiting
3D computer planning for jaw surgery
This trial tests whether a full 3D computer-assisted approach helps better diagnose and correct jaw and facial deformities during orthognathic surgery. It may benefit patients who need surgery to realign their jaws.
Bologna, Emilia-RomagnaAges 18–60 - NCT06806813Recruiting
Italian Fabry disease heart registry
This study is creating a registry of people with Fabry disease to better understand how it affects the heart. By joining, you help doctors learn more about the condition and improve care for future patients.
Chieti, Abruzzo/ChietiAges 2 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 - NCT07435168Recruiting
Chest pain and hidden cardiac amyloidosis study
This study looks for signs of a condition called cardiac amyloidosis in people who have chest pain but no blocked heart arteries. It aims to find hidden cases that might be missed with standard tests.
CopenhagenAges 65 years+ - 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 - NCT07442669Recruiting
Lung ultrasound for surfactant decision in premature babies
This trial uses a lung ultrasound score, a type of ultrasound, to decide when to give surfactant (a medicine that helps lungs work) to premature babies born between 27 and 35 weeks of pregnancy. It aims to reduce the need for more breathing support and avoid side effects.
Hackensack, New JerseyAges 6 months–8 months
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.