Clinical trials
Genetic Diseases, Inborn clinical trials
Below are recruiting genetic diseases, inborn clinical trials, each written for real people, not researchers. We’re tracking 15 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT07469657Recruiting
Cost-effectiveness of a non-invasive prenatal test for genetic disorders
This study is testing a non-invasive prenatal blood test (NIPD) that can check for certain serious genetic disorders in your baby, instead of using more invasive methods like amniocentesis. If you are at risk of passing on a severe genetic condition, this test may help you get answers safely.
Paris, Île-de-France RegionAges 18 years+ - NCT05477563RecruitingPhase 3
One-time gene therapy for severe sickle cell and transfusion anemia
This trial tests a single dose of gene therapy (CTX001) to improve outcomes for people with severe sickle cell disease or transfusion-dependent beta-thalassemia. It aims to see how well it works and whether it is safe, especially after a planned stem cell transplant process.
New York, New YorkAges 12–35 - NCT06337864Recruiting
Large neutral amino acids for adults with classical PKU
This study tests whether a specific mix of large neutral amino acids (LNAAs) can help adults with classical PKU by lowering phenylalanine levels in the brain. It includes an MRI and PET scan to see how the treatment affects brain activity.
CopenhagenAges 18–50 - NCT06672237RecruitingPhase 3
Study of NTLA-2001 for hereditary ATTR amyloidosis with nerve damage
This study is testing a new gene-silencing treatment called NTLA-2001 for people with hereditary ATTR amyloidosis that causes nerve damage. It works by stopping the body from making a faulty protein that builds up and harms nerves.
Buenos AiresAges 18–85 - NCT06917690RecruitingPhase 3
Testing oleogel-S10 for epidermolysis bullosa in Japanese patients
This trial tests a gel called oleogel-S10 on wounds caused by a rare skin condition called epidermolysis bullosa (EB). It is only for people of Japanese descent who have a specific type of EB called junctional or dystrophic EB. The gel is put on the wound to help it heal.
FukuokaAges 3 weeks+ - NCT00001405Recruiting
Blood Cell Collection Study for Immune and Blood Disorders
This study collects blood cells and bone marrow from people with immune system or blood disorders, and from healthy volunteers. Researchers will study these cells and may convert them into special stem cells (iPS cells) to better understand diseases and develop treatments.
Bethesda, MarylandAges 18–70 - NCT07608432RecruitingPhase 3
Testing a New DMD Treatment Given Every 4 Weeks
This study tests whether a new medicine called zeleciment rostudirsen can help ambulatory (walking) males with Duchenne muscular dystrophy (DMD). The medicine is given as an intravenous infusion (through a vein) every 4 weeks and works by helping the body produce a protective muscle protein.
Hillsborough, North CarolinaAges 4–18 - NCT04208529Enrolling by invitationPhase 3
Long-term follow-up after receiving CTX001 infusion
This study follows people for a long time after they received CTX001 in an earlier (parent) study. It helps researchers learn about long-term safety and outcomes of the treatment.
Palo Alto, CaliforniaAges 2 years+ - NCT06376279Enrolling by invitation
Genetic testing for metabolic diseases
This trial uses genetic testing to find the cause of suspected metabolic diseases, including some cases of epilepsy. It may help you get a clearer diagnosis and guide treatment.
Ages Any age - NCT06360913Recruiting
Blood and urine test for rare metabolic diseases
This study uses a simple blood spot and urine test to look for chemical signs of rare metabolic diseases. It aims to improve early detection and understanding of these conditions across all ages, including healthy individuals.
BrusselsAges 1 day–99 years - NCT06821386Recruiting
Genetic testing for seriously ill infants in intensive care
This study offers genetic testing for infants under 18 months who are in intensive care with certain health problems that may be genetic. The goal is to find a genetic cause quickly, which could guide care and treatment.
TaipeiAges Up to 1.5 years - NCT06169150Recruiting
Studying nervous system issues in immune disorders
This study looks for and tracks nervous system problems in people with immune system disorders. It aims to better understand how infections or inflammation affect the brain and nerves in these patients.
Bethesda, MarylandAges 2–120 - NCT06255782RecruitingPhase 3
Gene therapy study for baby boys with severe OTC deficiency
This trial tests a gene therapy called ECUR-506 for baby boys under 9 months old with a severe form of OTC deficiency. The goal is to see if it can help their bodies process ammonia better, reducing the need for a strict protein-restricted diet and medications.
Los Angeles, CaliforniaAges 1 day–7 months - NCT07102966Recruiting
Genetic study for babies with birth defects in Texas
This study looks for genetic causes of birth defects in newborn babies. If your baby has a suspected genetic condition and other tests haven't found a clear cause, this study may help find answers.
Houston, TexasAges 1 day–3 months - NCT01780168Recruiting
Study of metabolism, infection, and immunity in mitochondrial disease
This study looks at how metabolism, infections, and the immune system work together in people with mitochondrial disease. It aims to learn more about the condition and may help guide future treatments.
Bethesda, MarylandAges 4 weeks–115 years
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Genetic Diseases, Inborn trials by city
Studies with a site in or near these metro areas.
Genetic Diseases, Inborn trials by state
Studies with a site anywhere in these states.
Common questions
- Are there clinical trials for genetic diseases, inborn?
- Yes. Clin2 currently lists 15 recruiting genetic diseases, inborn studies from the U.S. registry, each rewritten for real people, not researchers, so you can see what it’s testing and who it’s for.
- How do I know if I qualify for a genetic diseases, inborn trial?
- Each study lists its eligibility criteria — rules about age, diagnosis, and prior treatments. On every Clin2 trial page we explain these in words written for real people and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Does it cost anything to join a genetic diseases, inborn trial?
- Using Clin2 is always free. Many trials cover the cost of the study treatment and related visits; some reimburse travel. The study team explains exactly what’s covered before you decide.
Related conditions
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.