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  • Review Article
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Rare neurological channelopathies — networks to study patients, pathogenesis and treatment

Nature Reviews Neurology volume 12, pages 195–203 (2016)Cite this article

Subjects

Key Points

  • Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) are multicentre networks that engage patients who have rare neurological channelopathies with investigators, as well as advocacy groups

  • Shared goals of the networks are to improve diagnosis, characterize the natural history, understand disease mechanisms, develop outcome measures that can be assessed in clinical trials, and devise novel treatment

  • Patients, advocacy groups and investigators are partners in network activities, including teleconferences for study organization and training, steering committee meetings, and annual face-to-face research workshops and scientific symposia

  • CINCH and CRC-SCA have invested in mentoring of junior investigators to pursue patient-oriented research on rare channelopathies

  • The two networks have created and maintained patient registries, stratified patients on the basis of genetic characteristics, collected longitudinal clinical data to identify disease-relevant outcome measures, and conducted Phase I and II trials

  • The two networks illustrate the collaborative approach that is necessary for the growing list of rare neurological channelopathies in need of treatment and further investigation

Abstract

Each of the thousands of rare neurological diseases requires a widely distributed network of centres, investigators and patients, so as to foster multidisciplinary investigations and involve sufficient numbers of patients in the discovery of disease pathogenesis and novel treatment. In this Review, we highlight the value of this collaborative approach in patient-oriented research into rare neurological channelopathies. Two networks, the Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and the Clinical Research Consortium for Studies of Cerebellar Ataxias (CRC-SCA), provide a link between patients with rare channelopathies and investigators who are studying disease pathogenesis and developing novel treatments. Interactions between patients, researchers and advocacy groups promote shared agendas that benefit patient education and recruitment, research collaboration and funding, and training and mentoring of junior investigators who are attracted to the study of the diseases that provide the focus for the two networks. Here, we discuss how linkage of national and international centres has enabled recruitment of study participants, provided opportunities for novel studies of pathogenesis, and facilitated successful clinical trials.

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Figure 1: Timeline of molecular and clinical research in SCA.
Figure 2: Timeline of molecular and clinical research in neurological channelopathies.

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Acknowledgements

The CINCH and CRC-SCA consortia were participants of the Rare Disease Clinical Research Network supported by the Office of Rare Disease Research and the National Center for Advancing Translational Sciences of the NIH. Both consortia were supported by the National Institute of Neurological Disorders and Stroke. CINCH received support from the Muscular Dystrophy Association. CRC-SCA received support from the National Ataxia Foundation.

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Authors and Affiliations

  1. Departments of Neurology and Neurobiology, David Geffen School of Medicine, University of California, 710 Westwood Plaza, Los Angeles, 90095, California, USA

    Joanna C. Jen

  2. McKnight Brain Institute & Department of Neurology, University of Florida, 1149 South Newell Drive, Gainsville, 32611, Florida, USA

    Tetsuo Ashizawa

  3. Departments of Neurology, Medicine, Pathology and Laboratory Medicine, and Pediatrics, and Center for Human Experimental Therapeutics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box CU 420669, Rochester, 14642, New York, USA

    Robert C. Griggs

  4. Departments of Neurology, Neuroscience and Biomedical Engineering, College of Medicine, University of Florida, 100 Newell Road, Gainesville, 32610, Florida, USA

    Michael F. Waters

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All authors researched data for the article, made substantial contributions to discussions of the content, wrote the article, and reviewed and/or edited the manuscript before submission.

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Correspondence to Joanna C. Jen.

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Jen, J., Ashizawa, T., Griggs, R. et al. Rare neurological channelopathies — networks to study patients, pathogenesis and treatment. Nat Rev Neurol 12, 195–203 (2016). https://doi.org/10.1038/nrneurol.2016.18

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