Amino acid therapy for Mitochondrial ARS deficiencies (AT MARS)
Research type
Research Study
Full title
An Open-label Phase 1/2 historical controlled study, evaluating the safety and efficacy of amino acid therapy in children and adolescents with mitochondrial aminoacyl-tRNA synthetase (ARS) deficiencies
IRAS ID
344709
Contact name
Srivdya Sreekantam
Contact email
Sponsor organisation
Birmingham Women's and Children's Hospital
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
Aminoacyl RNA Synthetase (ARS) deficiencies are severe multi-organ diseases with limited treatment options.
The ARS function is important in the cytosol and mitochondria for protein translation.
ARS deficiencies cause severe symptoms in various organs, especially in the first year of life and during infections and may lead to death. Amino acid supplementation can lead to improved protein translation by enhancing aminoacylation. This may benefit patients in terms of growth, development, and coping with infections.
This is a historical controlled study of amino acid supplementation in paediatric patients with mitochondrial ARS deficiencies.
We will study the safety and tolerability of amino acid supplementation and its impact on overall quality of life, growth, clinical symptoms, infections and neurodevelopmental outcome.REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
25/YH/0235
Date of REC Opinion
6 Nov 2025
REC opinion
Unfavourable Opinion