Amino acid therapy for Mitochondrial ARS deficiencies (AT MARS) study
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
2 years, 0 months, 0 days
Research summary
Aminoacyl RNA Synthetase (ARS) deficiencies are severe multi-organ diseases with limited treatment options.
The ARS enzymes play a key role in protein synthesis. As a result, 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 or the coupling of amino acids with the tRNA, which is an important step in protein synthesis. This may benefit patients in terms of growth, development, their ability to cope with infections and overall quality of life.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
East of England - Cambridge South Research Ethics Committee
REC reference
26/EE/0056
Date of REC Opinion
16 Apr 2026
REC opinion
Further Information Favourable Opinion