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Rare Diseases Epidemiology: Update and Overview pp 97–124Cite as

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1031))

Abstract

Inherited neuromuscular diseases (NMDs) are genetic disorders that affect the skeletal muscles or the nerves controlling muscle function. With a new generation of diagnostic options and recent advances in translational research improving the opportunities for therapy development for these rare conditions, capturing patient information in databases collecting a range of clinical and genetic data together with contact details has assumed an increasingly important role in trial planning and recruitment as well as natural history data collection. Here we provide an overview of a decade of patient registration activities in the NMD field, with a particular focus on patient registries set up with trial readiness in mind. A summary is provided of databases collecting precise genetic information focused on confirming the causative mutation and their evolution into registries that combine genetic data with additional clinical information useful for trial feasibility and recruitment. Use of these systems for a range of purposes beyond trial recruitment, including natural history assessment, care standards monitoring, genotype-phenotype correlation and disease burden evaluation is also described within the context of research networks (TREAT-NMD) and European Reference Networks (ERN-EURO-NMD). New initiatives including registries using controlled vocabularies for computational accessibility that focus on phenotypic data capture for gene discovery are analysed, and examples of the lessons learned at every stage are provided in order to allow new patient registration initiatives to benefit from the extensive experience gained.

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Acknowledgments

This work was funded by the UK Medical Research Council (MRC) Centre for Neuromuscular Diseases (reference G1002274, grant ID 98482) and by MRC grant number G0900872. HL receives funding from the European Commission through the projects NeurOmics (Grant No. 305121) and RD-Connect (Grant No. 305444). AR receives funding from SMA Support UK and the LGMD2I Research Fund. RT is funded by the European Commission through RD-Connect (No. 305444). The authors wish to acknowledge Rebecca Leary, Anne Oyewole, Oksana Pogoryelova and Elizabeth Wood for insight and information on individual registry initiatives related to TREAT-NMD, as well as the members of the TREAT-NMD executive committee and global database oversight committee (TGDOC).

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Author notes

  1. Rachel Thompson and Agata Robertson contributed equally to this work.

Authors and Affiliations

  1. MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK

    Rachel Thompson, Agata Robertson & Hanns Lochmüller

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  1. Rachel Thompson
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  2. Agata Robertson
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  3. Hanns Lochmüller
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Correspondence to Hanns Lochmüller .

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Editors and Affiliations

  1. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

  2. Centro Nazionale Malattie Rare, Istituto Superiore di Sanita, Roma, Italy

    Domenica Taruscio

  3. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA

    Stephen C. Groft

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Thompson, R., Robertson, A., Lochmüller, H. (2017). Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_5

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