A prospective study in paediatric patients with severe MMA
Research type
Research Study
Full title
A Prospective Clinical and Biochemical Assessment Study in Pediatric Patients with Methylmalonic Acidemia (MMA) Characterized by MMUT Mutations
IRAS ID
300959
Contact name
Anupam Chakrapani
Contact email
Sponsor organisation
LogicBio Therapeutics
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
This prospective natural history study will document standard-of-care and outcomes in paediatric patients with severe MMA associated with MMUT gene mutations who have not undergone liver or kidney transplantation.
Assessments will inform the natural history of MMA under current standard-of-care therapy and may aid in identifying endpoints for future therapies. Potential study subjects will be excluded if, in the opinion of the site Investigator, they have a clinically important condition other than MMA, which in the opinion of the investigator may pose a significant risk to patient safety or the integrity of study data.
Approximately 15 sites in the U.S., Europe (France, Spain, Italy), UK, Turkey and Saudi Arabia will take part in the study and up to 30 paediatric patients will be enrolled.
After screening, study visits are scheduled every 3-6 months to collect a set of core elements related to the subject’s disease course. Patients will participate for at least 1 year and continue in the study for a maximum of 3 years or until an LB-001 gene-therapy treatment trial is available. Patients will be invited to participate in an LB-001 gene-therapy treatment trial if they are eligible to receive the treatment when the trial is available.
REC name
East Midlands - Nottingham 1 Research Ethics Committee
REC reference
21/EM/0180
Date of REC Opinion
11 Oct 2021
REC opinion
Further Information Favourable Opinion