Consortium for Clinical Investigations of Neurological Channelopathies (CINCH)


At a Glance
  • Status: Active Consortium
  • Year Launched: 2006
  • Initiating Organization: NIH Rare Disease Clinical Research Network
  • Initiator Type: Government
  • Rare disease
  • Disease focus:
    Anderson-Tawil Snydrome, Episodic Ataxia, Non-Dystrophic Myotonia
  • Location: International

Abstract

Neurologic channelopathies are caused by a genetic mutation that affects the function of ion channels in cell membranes. Andersen Tawil syndrome, the non-dystrophic myotonias, and the episodic ataxias are all rare forms of neurologic channelopathies. The underlying causes of these conditions are only partly understood, and there are no established treatments. The diseases are characterized by episodes of muscle weakness, stiffness, and/or, incoordination. CINCH (Clinical Investigation of Neurologic Channelopathies) is a collaborative effort of doctors, patient organizations, and federal health agencies that want to learn more about these diseases so that they can ultimately offer better treatments to patients.

Mission

The purpose of the CINCH Consortium is to provide information about three neurologic channelopathies: Andersen-Tawil Syndrome (ATS), which is a form of periodic paralysis, non-dystrophic myotonia, and episodic ataxia.

This information includes the following:

Impact/Accomplishment

Non-dystrophic Myotonic Disorders

5303: Nondystrophic Myotonias: Genotype-Phenotype Correlation and Longitudinal Study

5306: Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia

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Andersen-Tawil Syndrome (a form of Periodic paralysis)

5301: Andersen-Tawil Syndrome: Genotype-Phenotype Correlation and Longitudinal Study

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Episodic Ataxias

5302: Episodic Ataxia Syndrome: Genotype-Phenotype Correlation and Longitudinal Study

Points of Contact

Barbara E. Herr, M.S., CCRC
Assistant Professor of Neurology
Channelopathy Project Manager
University of Rochester
email: Barbara_Herr@URMC.Rochester.edu

Sponsors & Partners

Brigham and Women’s Hospital

Centre for Neuromuscular Disease—London

David Geffen School of Medicine, UCLA

Howard Hughes Medical Institute at the University of California, San Francisco

IRCCS Policlinico San Donato—Universita’ Degli Studi di Milano, Milan

Kansas University Medical Center

London Health Sciences Centre, Ontario

National Institute of Neurological Disorders and Stroke (NINDS)

The University of Rochester Medical Center

University of Texas Southwestern Medical Center at Dallas


Last Updated: 04/14/2016

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