In a phase II open label, feasibility pilot study to assess efficacy of six months treatment with Valproate in 16 patients with McArdle disease, no clinically meaningful changes were observed in any of the primary or secondary outcome measures including: VO₂peak, 12 min walk test and muscle biopsy to look for a change in the number of phosphorylase positive fibres between baseline and 6 months of treatment.

The first two EUROMAC registry papers have been recently published (November 2020) in the Orphanet Journal of Rare Diseases. The first paper describes the creation and implementation of the EUROMAC registry (https://rdcu.be/cbIit); while the second paper reports the data collected from approximately 300 patients (https://rdcu.be/cbIh0).

We are glad to announce you that the continuation of the EUROMAC registry is ensured for the next 3 years through funding obtained at two Spanish national calls.

Dr. Ramon Martí, head of the Laboratory for Mitochondrial Disorders at Barcelona’s Vall D´Hebron Research Institute is the coordinator of the EUROMAC project.

EUROMAC registry is a secure, anonimised and confidential database designed to contain the medical data related to people with McArdle Disease and related conditions who give their consent to inclusion.

Check out the views and feelings from patients affected by McArdle’s Diseases and other other forms of rare neuromuscular glycogenosis, where exercise intolerance is the main symptom.