Page 10 - Fall 2020 CMTA Report

CMTA1A RESEARCH work in CMT1A, which may asked for our help in evaluating
(continued from page 9) reflect a likely site of action at a their candidate in both Type 1
different cell type. (CMT1A) and Type 2 models.
l Confidential Partner A owns a These studies are currently in
drug candidate derived from a l Confidential Partner C: The progress.
program at a major pharmaceu- testing resource described in
tical company. Based on known the previous section is “therapy l InFlectis, a French startup com-
evidence of the drug target’s agnostic” and can be used to pany, is working to develop a
possible role in CMT disorders, evaluate gene therapy approaches. new approach to CMT1B and
the company pursued evalua- Our first partner in this area is CMT1A. Sponsored research
tion in both Type 1 (CMT1A) currently evaluating delivery of studies have been performed in
and Type 2 CMT animal mod- its gene modifying system, pack- the CMTA STAR consortium
els. We have some evidence of aged inside an AAV virus, to to assess drug effects in both
effect in CMT1A and very nerves in CMT1A animals. If animal models, and InFlectis is
detailed data on which nerves delivery is sufficiently effective, currently raising funds for clini-
are affected was recently passed this will be followed by a com- cal trial testing of the molecule
to the company for further plete series of preclinical efficacy in patients.
discussion. studies this year to determine
if the approach can correct the l Pharnext, a French company, is
l Confidential Partner B is CMT1A defect and restore nor- developing a combination of
a mid-sized international phar- mal function in the animals. several exciting drugs for the
maceutical company seeking to treatment of CMT1A. The
establish if a drug candidate has l Confidential Partner D is devel- small molecule combination
possible activity in CMT1A. oping a novel biological showed benefit in early clinical
Their small molecule did not approach to treat CMT and trials, and regulatory authorities

CONSENSUS STATEMENT ON SURGICAL TREATMENT OF CMT PUBLISHED

n orthopedic foot and ankle
surgeon should be part of the
Acare team early in the course of
CMT, according to “A Consensus
Statement on The Surgical
Treatment of Charcot-Marie-
Tooth Disease,” published in Foot
& Ankle International in June. The
prestigious journal is a publication
of the American Orthopaedic Foot
& Ankle Society.
Funded by the CMTA, 13
experienced, board-certified orthopedic foot and ankle surgeons and a neurologist specializing in CMT convened at a one-day
meeting to discuss clinical and surgical considerations based on existing literature and individual experience. Led by orthopedic
surgeon Dr. Glenn Pfeffer, a member of the CMTA Advisory Board, the group defined consensus terminology, agreed upon
standardized templates for history and physical examination and recommended a comprehensive approach to CMT foot surgery.
The article concluded that “Patients with CMT present with a wide range of foot and ankle deformities that often worsen
as the disease progresses. These are complex deformities that require highly specialized care. Early surgical intervention should
reduce deformity progression and help preserve a plantigrade foot [in which the surface of the whole foot touches the ground
during locomotion].”
The authors recommended a multidisciplinary approach involving neurology, physical therapy and orthopedic surgery,
with an orthotist as needed. Shared decision-making with the patient, family and multidisciplinary team will provide the highest
quality of care, the group concluded.
Download a PDF of the study at www.cmtausa.org/download/14564/

10 THE CMTA REPORT FALL 2020