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

Tomàs Pinós,Pascal Laforêt,Sabrina Sacconi,Antonio Toscano,Jean Pouget,Piraye Oflazer,A Wakelin ,John Vissing,Miguel Martín ,Claudio Bruno,Georgios M Hadjigeorgiou,R Scalco ,Matthias Vorgerd,R Quinlivan ,Andrea Martinuzzi,Alejandro Lucı́a ,Ronald G Haller,Carmen Navarro,Antoni L Andreu,Ramón Martí

doi:10.1186/s13023-020-01455-z

Abstract

BackgroundInternational 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.ResultsTeams 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.ConclusionEUROMAC 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.

Highlights

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
McArdle Disease is characterized by exercise intolerance typified by acute crises of early fatigue and muscle contractures that in ~ 50% of the cases are accompanied by rhabdomyolysis, hypercreatine kinase (CK)-emia and myoglobinuria, which occasionally result in acute renal failure [3, 4]
Glycogenosis type II (Pompe disease) was not included in EUROMAC because a global registry for Pompe disease already exists (NCT00231400, https://clinicaltrials.gov/), which is planned to last at least until year 2034. To achieve this main goal, several specific aims were proposed: a) to obtain epidemiology data on these diseases in Europe; b) to reach patients and medical community to inform on these disorders; c) to assess clinical and cost effectiveness of standard and novel therapeutic interventions; d) to assess quality of care provided by services; e) to gain insight on disease pathophysiology; and f) to provide an inventory of patients that can be contacted for clinical research. In pursuance of these objectives, the EUROMAC registry (EMR) intended to recruit into the registry all individuals who had been diagnosed with McArdle Disease and other rare muscle glycogenoses in Europe

Summary

Introduction

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. McArdle disease (glycogen storage disease type V, myophosphorylase deficiency) is an autosomal recessive disorder of glycogen metabolism, originally described in 1951 [1]. It is the most frequent metabolic myopathy with an estimated prevalence of ~ 1 in 140,000 people [2]. The mutations lead to loss of enzyme activity and inability to break down muscle glycogen, making this source of energy unavailable to patients [3]. There is phenotypic variability, ranging from rare cases of patients that are virtually asymptomatic to the more common ones reporting recurrent exertional myoglobinuria, fixed muscle weakness and severe limitations of exercise and most daily life activities [2, 5]

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