Clinical trials
Inborn Errors of Metabolism clinical trials
Below are recruiting inborn errors of metabolism 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
- NCT07716488Recruiting
Screening for high cholesterol in children with chronic conditions
This study screens children and teens with certain chronic conditions (like heart defects or inflammatory bowel disease) for early signs of high cholesterol or other lipid problems. The goal is to find and manage these risks sooner.
JenaAges 6–18 - NCT05413278Recruiting
Helps teens with inherited metabolism conditions move to adult care
This study tests a targeted approach to help teenagers with inherited metabolism conditions successfully transfer from children’s to adult healthcare. It may help families feel more confident and reduce problems during the handoff to adult services.
ViennaAges 14–25 - 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 - NCT00237315Recruiting
Long-term study of urea cycle disorders in affected families
This study follows people with urea cycle disorders (and some people who are very likely to have one) over time. It aims to better understand how these rare enzyme problems affect health, using medical tests and family information.
Los Angeles, CaliforniaAges Any age - 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 - 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 - NCT06729554Recruiting
Education and support program for rare disease kids
This study tests a targeted educational and support program for children and teens with rare diseases. It helps families learn more about the condition and cope better with day-to-day challenges.
Graz, AustriaAges 5–20 - NCT00369421Recruiting
Diagnosis and care for inherited metabolic conditions
This trial helps evaluate people who may have an inherited (genetic) metabolic or related disorder, and sometimes includes treatment or guidance based on the diagnosis. It may involve blood and urine testing, and participation can include in-person visits or telehealth.
Bethesda, MarylandAges 1 month–115 years - 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 - NCT06573723Recruiting
Rare disease registry at Hospital Italiano
This study collects information from patients with certain rare diseases to better understand them. If you have one of these conditions and receive care at Hospital Italiano de Buenos Aires, you may be able to join.
Buenos Aires, Buenos AiresAges Any age - NCT06839456RecruitingPhase 1/Phase 2
Stem cell addback to prevent infections after transplant
This trial tests whether adding back certain immune cells after a stem cell transplant can help prevent serious viral or fungal infections. It's for children and young adults up to age 25 who need a transplant for a blood cancer or other curable disease.
Philadelphia, PennsylvaniaAges 1 month–25 years - NCT00078078Recruiting
Understanding Methylmalonic Acidemia and Cobalamin Disorders
This research study follows patients with methylmalonic acidemia (a rare metabolic disorder affecting how the body breaks down certain proteins) or cobalamin (vitamin B12) disorders to better understand how these conditions develop and progress over time. Researchers will collect medical information, blood samples, and eye exams to help improve future treatments.
Washington D.C., District of ColumbiaAges 1 month–115 years - NCT02356653RecruitingEarly Phase 1
Stem cell transplant help for children lacking a matching sibling
This expanded-access study offers a specific type of stem cell transplant preparation that removes certain immune cells (CD3 and CD19) from donor stem cells. It is for children who need a transplant but do not have a fully matched sibling donor and whose team cannot use the hospital’s usual matching device protocol.
Philadelphia, PennsylvaniaAges Up to 30 years - NCT06953505Recruiting
At-home ammonia monitoring for inherited metabolic disorders
This trial tests a device for measuring ammonia levels at home in people with rare metabolic conditions that cause high ammonia. It aims to make monitoring easier and more convenient for patients.
Portland, OregonAges 12 years+
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Inborn Errors of Metabolism trials by state
Studies with a site anywhere in these states.
Common questions
- Are there clinical trials for inborn errors of metabolism?
- Yes. Clin2 currently lists 15 recruiting inborn errors of metabolism 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 inborn errors of metabolism 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 inborn errors of metabolism 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.