These papers arise out of the Euromac Registry of people with muscle GSDs. They analyze the data held in the registry, which is also a resource for recruiting participants in international clinical trials. All these papers have full Open Access.
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DATA FROM THE EUROPEAN REGISTRY FOR PATIENTS WITH MCARDLE DISEASE (EUROMAC): FUNCTIONAL STATUS AND SOCIAL PARTICIPATION
Orphanet Journal of Rare Diseases, due 2023
This paper is in final draft, we will link to the PDF once it is published.
Presents the data on social participation, previous and current treatments (medication, supplements, diet and rehabilitation) and limitations. The following questionnaires were used: Fatigue severity scale, WHO Disability Assessment Scale, health related quality of life and International Physical Activity Questionnaire. Of 282 participants with confirmed muscle glycogenosis, 269 had GSD5. Of them 196 (73%) completed all questionnaires. 180 (67%) were currently working. Previous medical treatments included pain relief (23%) and rehabilitation (60%). The carbohydrate-rich diet was reported to be beneficial for 68%, the low sucrose diet for 76% and the ketogenic diet for 88%. Almost all participants (93%) reported difficulties climbing stairs. The median FSS score was 5.22, indicating severe fatigue. The Euromac Registry has provided insight into the functional and social status of participants with GSD5: most participants are socially active. Regular physical activity and different dietary approaches may alleviate fatigue and pain.
DATA FROM THE EUROPEAN REGISTRY FOR PATIENTS WITH MCARDLE DISEASE AND OTHER MUSCLE GLYCOGENOSES (EUROMAC)
Orphanet Journal of Rare Diseases, Nov 2020
The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) facilitates recruitment for research trials and to learn about the phenotypes and to disseminate knowledge through workshops and websites. Twenty partners from eight European countries and the US contributed data and after 3 years, the data in the registry was analysed. Of 282 patients 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and a number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). This should lead to better management, including controlling weight, and preventive screening for thyroid and coronary artery diseases.
CREATION AND IMPLEMENTATION OF A EUROPEAN REGISTRY FOR PATIENTS WITH MCARDLE DISEASE AND OTHER MUSCLE GLYCOGENOSES (EUROMAC REGISTRY)
Orphanet Journal of Rare Diseases, Oct 2020
International patient registries are of particular importance for rare disorders. Our objective was to create a European registry for patients with McArdle disease and other muscle glycogenoses (Euromac) and to disseminate the knowledge of these disorders. Teams from nine countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium. A work plan was implemented to design the database and platform that constitute the registry, by choosing clinical, genetics and molecular variables of interest. Among dissemination activities, several teaching events were organized in different countries, especially those where the awareness of these diseases needs to be promoted among health professionals. Euromac represents a step forward in the knowledge of these disorders, and will have relevant outcomes at the diagnostic, epidemiological, clinical and research level.