MMA-OBS-01
Research type
Research Study
Full title
A prospective, longitudinal, observational, multi-centre study of pediatric participants up to 16 years of age with methylmalonyl-CoA mutase deficiency caused by mutations in the MMUT gene that results in a diagnosis of isolated Methylmalonic Acidemia (MMA)
IRAS ID
369356
Contact name
Faith Anane
Contact email
Sponsor organisation
Genespire Srl.
Clinicaltrials.gov Identifier
To be confirmed, To be confirmed
Duration of Study in the UK
4 years, 2 months, 0 days
Research summary
The main purpose of this observational study that tracks how the disease develops over time is to gather necessary data and evidence to confirm which signs in the body and blood test results can reliably show disease activity related to MMA. These confirmed signs and blood test results (from blood samples already collected for the study) will be used for future research into developing new treatments for MMA. The data will be collected from participants with severe symptoms with and without liver transplant.
Other purposes of this study are to have a better understanding of:
• How the disease progresses over time
• How quickly the disease gets worse, what patterns occur, and when this happens in young patients up to the age of 16
• outcomes for patients who have liver transplants
• how dietary needs and nutritional therapy change due to disease progression and/or organ transplantation
• how the ability to eat and swallow normally changes during the course of the disease
• how overall health and well-being change due to disease progression and/or organ transplantation
• how the brain is affected due to disease progression and/or organ transplantation
how the use of medical care and services (such as doctor visits, hospital stays, and treatments) changes due to disease progression and/or organ transplantationREC name
East of England - Essex Research Ethics Committee
REC reference
26/EE/0064
Date of REC Opinion
12 Mar 2026
REC opinion
Favourable Opinion