Dataset Information

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

ABSTRACT: BACKGROUND:International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders. RESULTS:Teams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. A work plan was implemented to design the database and platform that constitute the registry, by choosing clinical, genetics and molecular variables of interest, based on experience gained from previous national registries for similar metabolic disorders. Among dissemination activities, several teaching events were organized in different countries, especially those where the consortium considered the awareness of these diseases needs to be promoted among health professionals and patients. CONCLUSION:EUROMAC represents a step forward in the knowledge of those disorders to which it is dedicated, and will have relevant clinical outcomes at the diagnostic, epidemiological, clinical and research level.

SUBMITTER: Pinos T

PROVIDER: S-EPMC7558742 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Pinós Tomàs T Andreu Antoni L AL Bruno Claudio C Hadjigeorgiou Georgios M GM Haller Ronald G RG Laforêt Pascal P Lucía Alejandro A Martín Miguel A MA Martinuzzi Andrea A Navarro Carmen C Oflazer Piraye P Pouget Jean J Quinlivan Ros R Sacconi Sabrina S Scalco Renata S RS Toscano Antonio A Vissing John J Vorgerd Matthias M Wakelin Andrew A Martí Ramon R

Orphanet journal of rare diseases 20201015 1

<h4>Background</h4>International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McAr ...[more]

PMID: 33054807

Similar Datasets

Project description:We analyzed the effects of a 4-month resistance (weight lifting) training program followed by a 2-month detraining period in 7 adult McArdle patients (5 female) on: muscle mass (assessed by DXA), strength, serum creatine kinase (CK) activity and clinical severity. Adherence to training was ≥84% in all patients and no major contraindication or side effect was noted during the training or strength assessment sessions. The training program had a significant impact on total and lower extremities' lean mass (P < 0.05 for the time effect), with mean values increasing with training by +855 g (95% confidence interval (CI): 30, 1679) and +547 g (95%CI: 116, 978), respectively, and significantly decreasing with detraining. Body fat showed no significant changes over the study period. Bench press and half-squat performance, expressed as the highest value of average muscle power (W) or force (N) in the concentric-repetition phase of both tests showed a consistent increase over the 4-month training period, and decreased with detraining. Yet muscle strength and power detraining values were significantly higher than pre-training values, indicating that a training effect was still present after detraining. Importantly, all the participants, with no exception, showed a clear gain in muscle strength after the 4-month training period, e.g., bench press: +52 W (95% CI: 13, 91); half-squat: +173 W (95% CI: 96, 251). No significant time effect (P > 0.05) was noted for baseline or post strength assessment values of serum CK activity, which remained essentially within the range reported in our laboratory for McArdle patients. All the patients changed to a lower severity class with training, such that none of them were in the highest disease severity class (3) after the intervention and, as such, they did not have fixed muscle weakness after training. Clinical improvements were retained, in all but one patient, after detraining, such that after detraining all patients were classed as class 1 for disease severity.

Dataset Information

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Publications

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets