Consortium for Clinical Investigations of Neurological Channelopathies (CINCH)
Research Areas
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
Links/Social Media Feed
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Homepage |
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
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Brigham and Women’s Hospital |
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Centre for Neuromuscular Disease—London |
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David Geffen School of Medicine, UCLA |
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Howard Hughes Medical Institute at the University of California, San Francisco |
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IRCCS Policlinico San Donato—Universita’ Degli Studi di Milano, Milan |
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Kansas University Medical Center |
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London Health Sciences Centre, Ontario |
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National Institute of Neurological Disorders and Stroke (NINDS) |
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The University of Rochester Medical Center |
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University of Texas Southwestern Medical Center at Dallas |