Moderna Exploratory Study of Organic Acidemias
Research type
Research Study
Full title
A longitudinal, exploratory, natural history study to further characterize and describe the signs and symptoms of patients with organic acidemias
IRAS ID
239340
Contact name
Stephanie Gruenewald
Contact email
Sponsor organisation
Moderna Therapeutics, Inc.
Duration of Study in the UK
3 years, 0 months, 30 days
Research summary
This is a longitudinal, exploratory, natural history study to further characterize and describe the signs and symptoms of patients with organic acidemias.
Isolated methylmalonic acidemia/aciduria (MMA) is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (MUT) as depicted by mut0 or mut– enzymatic subtype. The disorder is biochemically characterized by marked elevations of methylmalonic acid in body fluids and tissues resulting from the failure to convert methylmalonyl-CoA into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix (Manoli et al. 2016).
MMA is a serious, life-threatening condition for which there is no approved treatment. Some patients respond to vitamin B12 supplementation; however, diet alone is inadequate to control a patient’s decline. Additionally, patients respond to liver and/or kidney transplant; however, transplant as a therapeutic option has serious limitations. Therefore, other therapeutic options are needed. This study will provide comprehensive and reliable clinical information to characterize and describe the signs and symptoms of patients with MMA mut0 or mut-. The data collected will inform the development of future treatments and may serve as a historical group for comparison with data obtained in future interventional studies.REC name
Wales REC 7
REC reference
18/WA/0042
Date of REC Opinion
14 Mar 2018
REC opinion
Further Information Favourable Opinion