Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,864 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3217
- 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
- California340
- Maryland161
- Alabama130
- Massachusetts116
- New York84
- Arizona76
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,864 total
- NCT06261502RecruitingPhase 2
CBD for Anxiety in Fragile X Syndrome
This trial tests if cannabidiol (CBD) can help with anxiety and improve brain function in people with Fragile X syndrome. Participants will receive CBD or a placebo, and may have brain scans (MRI) or magnetic stimulation (TMS) to see how it works.
Sherbrooke, QuebecAges 7–40 - NCT05183165RecruitingTeam says not enrolling
Study measures copper levels in breast milk for Wilson’s disease
This study measures how much copper is present in breast milk in people with Wilson’s disease. It aims to provide safer guidance for breastfeeding during treatment, including during pregnancy.
ParisAges 18 years+ - NCT07404111RecruitingPhase 1/Phase 2
Study of VV-14305 for thyroid eye disease
This study tests an investigational medication for thyroid eye disease, which causes bulging eyes and discomfort. The treatment is given as an injection near the eye, and the study will last about 12 months to see how safe and effective it is.
Livonia, MichiganAges 18–80 - NCT07791069Enrolling by invitation
Study of a device to manage blood flow in the lungs for heart disease in young children
This study looks at how well a new device works to control blood flow to the lungs in children with heart problems. It reviews medical records of children who had this device placed in their lung arteries.
Le Plessis-RobinsonAges Up to 3 years - NCT07734064RecruitingPhase 1
Safety of one eye injection for Stargardt vision loss
This study tests a single injection of ASP2020 in the eye to see if it is safe and if it can help improve vision for people with Stargardt disease or similar inherited eye conditions.
Phoenix, ArizonaAges 6 years+ - NCT07560956Enrolling by invitation
Quality of Life in Adults With Untreated Fabry Disease
This study looks at how Fabry disease affects daily life in adults who haven't started treatment yet. Researchers want to understand your experiences and challenges to improve care for people with this rare genetic condition.
GothenburgAges 18 years+ - NCT06744283Recruiting
Managing cancer screening anxiety in Fanconi anemia
This study observes and talks with adults with Fanconi anemia about their feelings during cancer screening visits. It aims to learn how to better support people with FA through screening anxiety.
Bethesda, MarylandAges 18–100 - NCT06003387RecruitingPhase 3
Gene therapy for hemophilia B with AAV5 antibodies
This trial tests a gene therapy called CSL222 for adults with hemophilia B who have antibodies against the AAV5 virus used to deliver the therapy. It aims to see if the treatment is safe and effective even when these antibodies are present.
San Diego, CaliforniaAges 18 years+ - NCT05420064Recruiting
Help with family cancer gene testing and unclear results
This trial helps people and their doctors understand and act on genetic test results, including when results are uncertain. It tests whether a structured approach improves who gets tested in families and helps patients and primary care providers stay up-to-date.
Basking Ridge, New JerseyAges 25 years+ - NCT07227155Recruiting
HOPE Biobank for bone marrow failure patients
This study collects blood samples from patients with aplastic anemia, sickle cell disease, thalassemia, or other bone marrow failure conditions who are receiving a stem cell transplant or gene therapy. The samples will be stored and used for future research to better understand and treat these diseases.
Duarte, CaliforniaAges Any age - NCT06782230Recruiting
A biobank for rare disease samples and data
This study creates a collection of biological samples and health information from people with rare diseases and their family members. It aims to build a shared resource that can help future research on rare conditions.
San Donato Milanese, MilanAges Any age - NCT04675749Recruiting
Quality of life study in adult women with X-ALD
This study looks at quality of life in adult women who have X-linked adrenoleukodystrophy (X-ALD). It may help researchers understand how this condition affects daily life and well-being.
Leipzig, SaxonyAges 18 years+ - NCT07154719RecruitingPhase 4
Testing a weight loss drug's effect on muscle and bone
This study tests a medication called tirzepatide (a type of GLP-1 drug) to see how it affects muscle and bone health during weight loss. It is for people with obesity who are not menopausal and do not have diabetes or bone disease.
Baton Rouge, LouisianaAges 18–50 - NCT05288790RecruitingPhase 2
Study how gut chemicals and alcohol affect heart risk in HIV
This Phase 2 study looks at how “microbiome metabolites” (chemicals from gut bacteria) and alcohol may affect heart and blood vessel risk in people living with HIV. If you qualify, you may be asked to follow a study plan to see how these factors change health markers related to cardiovascular disease.
Nashville, TennesseeAges 18–89 - NCT06931990RecruitingPhase 1/Phase 2
Testing a new tablet for eczema in Chinese adults
This trial tests an experimental tablet (LT-002-158) for adults with moderate-to-severe eczema that hasn't improved enough with standard creams. The goal is to see if the tablet is safe and helps control symptoms.
Beijing, Beijing MunicipalityAges 18–75 - NCT02852213RecruitingPhase 1
Dose-check study for children with AADC deficiency using brain surgery
This Phase 1 trial tests how safe different treatment doses are for children with AADC deficiency, using MRI-guided brain surgery. It may help improve movement and developmental progress after standard medicines did not work well enough.
San Francisco, CaliforniaAges 2 years+ - NCT07787091RecruitingPhase 1/Phase 2
First study of ARD001 in healthy people and those with hemophilia A
This study tests a new medicine, ARD001, for the first time in humans. It aims to see if the drug is safe and how the body handles it, and it is also being studied in people with hemophilia A to find a safe dose for future trials.
SingaporeAges 21–45 - NCT07788014RecruitingPhase 1
Testing a new medicine for healthy adults
This study tests a new investigational drug called GV-100 to see how safe it is and how the body handles it. It is for healthy adults and will be given in different doses to find the best one.
Adelaide, South AustraliaAges 18–65 - NCT07787975Recruiting
Understanding genetic test results with RNA sequencing
This study uses a special test called RNA sequencing to find genetic causes of diseases when standard genetic tests didn't give answers. It might help you get a clearer diagnosis or find out if a genetic change actually causes your condition.
San Francisco, CaliforniaAges 2 years+ - NCT04504955Recruiting
Atopic dermatitis patient registry for medication safety and results
This study is a real-world registry that collects information from adults with atopic dermatitis (eczema) to track how newly started treatments work and how safe they are over time. It may help researchers and doctors better understand medication effects in everyday care.
Waltham, MassachusettsAges 18 years+ - NCT07727538RecruitingPhase 3
Olezarsen for familial chylomicronemia syndrome in children and teens
This study tests a new medicine called olezarsen to lower very high triglycerides (fats) in the blood of children and teenagers with familial chylomicronemia syndrome (FCS), a rare genetic condition. The goal is to reduce the risk of pancreatitis and other complications.
Birmingham, AlabamaAges 2–17 - NCT07554924RecruitingPhase 1/Phase 2
Gene therapy for newly diagnosed spinal muscular atrophy type I infants
This study tests SKG0201, a new gene therapy designed to treat spinal muscular atrophy type I (SMA type I), a rare genetic condition affecting muscle strength. The trial enrolls very young infants diagnosed with SMA type I to see if the treatment is safe and helps improve muscle function.
Beijing, Beijing MunicipalityAges Up to 6 months - NCT07187297Recruiting
Radiofrequency skin tightening study for loose skin and wrinkles
This study tests a radiofrequency device called Thermage® FLX to see how well it tightens skin and reduces wrinkles on the neck, face, belly, or upper arms. It may be a good option if you have mild to moderate skin looseness or lines and haven't had recent cosmetic procedures.
Sacramento, CaliforniaAges 30–60 - NCT07188285Enrolling by invitation
Immune system study for active autoimmune diseases
This study uses a blood test called mass spectrometry to look at the immune system in people with active autoimmune diseases. It aims to find patterns that could help doctors better understand and treat these conditions.
Beijing, Beijing MunicipalityAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,864 recruiting medical genetics studies from the U.S. registry right now, out of 5,713 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.