Scientists at the IBIV will help create an international patients register towards an in-depth study of this disorder

Researchers in BIOCAPS’ Neurological Sciences and Rare Diseases Area participate in the EUROMAC Project, a joint scientific initiative to progress in knowledge of McArdle disease in which 20 partners from seven countries of the European Union, the USA and Turkey are involved.

This project, with an almost 1 million euro budget, began in May. Its main objective is to take a qualitative leap forward in research work into this rare disease which causes neuromuscular disorders. The work will continue for 3 years and will be coordinated by the Neuromuscular and Mitochondrial Pathology Group of the Vall d’Hebrón Research Institute (Barcelona).

This BIOCAPS’ scientific area is led by Carmen Navarro, who will collaborate in this initiative by providing the experience acquired by researchers from the Biomedical Institute of Vigo (IBIV) in this disease, which affects more than 200 people in Spain alone. This figure corresponds to the hospital registers of the Meixoeiro Hospital in Vigo, the 12 de Octubre Hospital in Madrid and the Vall d’Hebrón Hospital.

Indeed EUROMAC’s main objective is to obtain the most complete register possible of patients affected by this disease in the countries participating in the project. According to the coordinators, the data collected at the end of this international initiative will allow researchers to study the knowledge available on the disease in much more detail.

The project is backed by the experience of various partners in complementary fields like genetics and neuroscience and, to this, the potential of the diffusion by the Association of Glycogen Storage Disorders (UK) is added, which has plenty of experience in organising activities to make these diseases known to citizens and, more importantly, to support the patients suffering them.

McArdle disease, which currently has no treatment, is a metabolic disease which affects skeletal muscles. It is a hereditary disease caused by the lack or dysfunction of an enzyme needed to produce glucose and, consequently, energy. Those people with this disease tend to notice fatigue and weakness while performing certain activities like running, swimming, or even walking.

In any case, the EUROMAC Project will not only attempt to favour advances being made in research into McArdle disease, but will also help create registers on other rare disease types related with muscular glycogenesis, which are expected to become a reference point in this study.

38 IBIV scientists

BIOCAPS’ Neurological Sciences and Rare Diseases Area combines the work of 38 IBIV scientists, who will offer the EUROMAC Project their experience and knowledge. Besides rare neuromuscular disorders, the other research lines in this area are the neurological tissues bank and prionopathies, liposomal storage disorders, experimental neurophysiology and mental disorders.

Original news: Uvigo.es