Rare neurological channelopathies--networks to study patients, pathogenesis and treatment

Authors

Joanna C. Jen, Departments of Neurology and Neurobiology, David Geffen School of Medicine, University of California, 710 Westwood Plaza, Los Angeles, California 90095, USA.
Tetsuo Ashizawa, McKnight Brain Institute &Department of Neurology, University of Florida, 1149 South Newell Drive, Gainsville, Florida 32611, USA.
Robert C. Griggs, 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, New York 14642, USA.
Michael F. Waters, Departments of Neurology, Neuroscience and Biomedical Engineering, College of Medicine, University of Florida, 100 Newell Road, Gainesville, Florida 32610, USA.

Document Type

Article

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.

Medical Subject Headings

Biomedical Research (economics, methods); Channelopathies (diagnosis, epidemiology, therapy); Clinical Trials as Topic (economics, methods); Humans; Multicenter Studies as Topic (economics, methods); Patient Selection; Treatment Outcome

Publication Date

4-1-2016

Publication Title

Nature reviews. Neurology

E-ISSN

1759-4766

Volume

12

Issue

4

First Page

195

Last Page

203

PubMed ID

26943780

Digital Object Identifier (DOI)

10.1038/nrneurol.2016.18

Recommended Citation

Jen, Joanna C.; Ashizawa, Tetsuo; Griggs, Robert C.; and Waters, Michael F., "Rare neurological channelopathies--networks to study patients, pathogenesis and treatment" (2016). Translational Neuroscience. 1335.
https://scholar.barrowneuro.org/neurobiology/1335