Page 9 - 2021 Spring CMTA Report - Special Research Edition

CMTA FUNDS STUDY USING TWO

ALREADY-APPROVED DRUGS TO
EXPLAINED
TREAT CMT1B INC

The Inherited Neuropathy CMT1A and developed clinical The grants were aimed at fostering
Consortium (INC) is an integrated observation assessments that have collaborative research among
group of academic medical centers, enabled natural history studies and scientists to better understand how
patient support organizations and will facilitate clinical trials. rare diseases progress and to develop
clinical research resources Led by University of Iowa neurologist improved approaches for diagnosis
dedicated to conducting clinical and CMTA Board Member Michael and treatment.
research in different forms of CMT Shy, MD, the INC is part of the Rare According to Dr. Shy, professor of
and improving the care of patients. Diseases Clinical Research Network neurology and director of the CMT
Funded primarily by the National (RDCRN), a group of scientists, clini- Clinic at the University of Iowa
Institutes of Health (NIH), with cians, patients, families and patient Hospitals & Clinics, the funding
supplemental funding from the advocates that studies a wide range means that Iowa “will continue to
Charcot-Marie-Tooth Association and of rare diseases. The RDCRN is pioneer natural history studies and
the Muscular Dystrophy Association, supported by multiple NIH Institutes develop clinical and biomarker
the INC plays a key role in developing and Centers and led by NIH’s National outcome instruments for patients with
the infrastructure necessary to Center for Advancing Translational multiple genetic forms of inherited
evaluate CMT therapies. Sciences (NCATS) and the NCATS peripheral neuropathies. We will
Since 2008, INC members have Office of Rare Diseases Research. also be able to continue our efforts to
identified many new mutations in Originally, the INC consisted of six identify novel genetic causes of
genes that cause CMT, discovered sites. With supplemental funding from CMT and continue to train the next
new genes that cause CMT, the Muscular Dystrophy Association generation of young investigators in
illuminated the molecular (MDA) and the Charcot-Marie-Tooth our field.”
pathogenesis of CMT, performed Association, that number has now In addition to seeking new and better
translational studies with animal expanded to more than 23 sites treatments for patients with inherited
models of CMT that may lead to new internationally. neuropathies, the consortium also
therapies, developed management provides up-to-date information to
strategies and standards of care for The NIH granted the INC $7.2 million help patients manage their diseases
people with CMT, published in renewed funding in October 2019 and assists in connecting patients with
strategies for genetic testing for for continued clinical research on support groups, expert doctors and
inherited neuropathies, developed different forms of inherited peripheral clinical research opportunities.
biomarkers, participated in three neuropathies and improving the care
clinical trials of ascorbic acid for of patients.

THE CMTA CENTERS OF EXCELLENCE
The CMTA Centers of Excellence roughly correspond to the sites
that make up the Inherited Neuropathy Consortium.

Washington

Minnesota
Oregon Michigan Massachusetts
New York
Connecticut
Iowa New Jersey
Pennsylvania
Illinois Ohio
Utah Maryland
Colorado Washington, DC
California Missouri
North Carolina

Australiia Belgium
Texas
Florida
Italy
England

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