Children at Saint Mary’s Hospital are first in the world to take part in genomic study
MaP is an observational research study involving children diagnosed with two very rare genetic metabolic disorders, Methylmalonic Acidaemia (MMA) and Propionic Acidaemia (PA). It aims to characterise changes in blood disease biomarkers and the frequency and severity of clinical events in people living with MMA and PA.
The study is being led locally by Dr Bernd Schwahn, Consultant Paediatrician in Metabolic Medicine, who leads the Genetic Research team at Saint Mary’s Hosptial, part of It is sponsored by Moderna Therapeutics and supported by NIHR North Thames Clinical Research Network (CRN).
Dr Schwahn said:
MMA and PA are inherited metabolic disorders with often life-threatening symptoms, requiring children to receive intensive care. There is currently there is no effective treatment for MMA or PA, which really underlines why we do research – to help bring about treatments which can save and improve the quality of children’s lives.
Patients are being recruited from the Manchester Centre for Genomic Medicine (MCGM), which is the main referral centre for children with metabolic diseases and houses the main diagnostic metabolic laboratory in the North of England. In total, the study aims to recruit up to 100 patients across all international sites.
MaP will quite literally ‘map’ patients’ journey over three years. The study is gathering data which will serve as a reference for future interventional clinical trials that are already in planning, and for which MCGM will be a study centre.
MMA and PA are inherited metabolic disorders that disrupt normal amino acid metabolism and cause a build-up of toxic organic acids with various short and long-term effects.
Depending on the severity of the disorder, children may present in the new-born period, or later in life with often life-threatening symptoms, requiring intensive care. Once stabilised on a special diet and medication, many still suffer from progressive damage to organs including brain, kidneys, heart and liver and may not live into adulthood.
Read more about biomarkers and how Manchester is leading the world in a new era of genomics on the MFT Research and Innovation website.
Find out more about taking part in this study via the NIHR Be Part of Research registry.