Page 23 - 2021 Winter CMTA Report

CMTA Zooms First Patient/Family Conference

BY LAUREL RICHARDSON Svaren (University of Wiscon- Type 2s (axonal forms) and
sin), Steven Scherer (UPENN), unknown variants. They talked
ore than 200 people Kleopas Kleopa (Cypress Insti- about Dr. James Wilson’s work
gathered for the tute of Neurology and Genetics), with Passage Bio at the Univer-
CMTA’s first Zoom and Stephan Züchner (Univer- sity of Pennsylvania using gene
Patient/Family Con- sity of Miami). therapy to treat CMT2A. The
Mference on Saturday, Attendees then moved into CMTA is also funding the work
November 7, 2020, in a rare breakout sessions by CMT type: of Drs. Bruce Conklin and Luke
opportunity for attendees to hear demyelinating (Types 1, 4 and X) Judge of the Gladstone Institutes
from CMT experts worldwide. or axonal and unknown variants and the UCSF Departments of
Those experts covered a (Type 2). The type-specific ses- Medicine and Pediatrics, who
wide variety of topics. Dr. Steven sions provided in-depth updates are exploring the therapeutic
Scherer and Tanya Bardakjian, on the many research projects application of genome editing
MS, LCGC, both of the Univer- underway for each subtype. technology (CRISPR) to CMT2A,
sity of Pennsylvania (UPENN) Drs. John Svaren and CMT2E and CMT2F.
presented on adult neurology/ Kleopas Kleopa led the demyeli- Dr. Züchner shared informa-
genetics, and Dr. Alexander nating session. Dr. Kleopa tion about the newly discovered
Fay and Matt Hall, MS, of the updated attendees on his CMTA- SORD gene. According to Züch-
University of California San funded studies that proved gene ner, “[T]here are over 3,000
Francisco (UCSF) gave a presen- therapy is feasible in rodent patients in the US alone [with
tation on pediatric neurology/ models of CMT1X and CMT4C. the SORD mutation] and the
genetics. The CMTA is actively supporting best part is we think it’s treat-
Midday breakout sessions the efforts of several gene ther- able.” When the breakout
were led by CMTA Advisory apy companies to develop new sessions finished, all attendees
Board members and/or thera- CMT gene therapies. Dr. Svaren and speakers met back in the
peutic experts from CMTA told listeners about the CMTA’s main Zoom “room” for a Q & A
Centers of Excellence. They partnership with InFlectis Bio- session with the panelists.
included tangible, valuable infor- Science to develop agents to The silver lining of holding
mation on physical therapy, restore myelin protein balance the conference online was that
bracing, emotional wellness and for CMT1A and CMT1B. Phase 1 CMT patients from all over the
staying active with CMT. clinical trials have concluded and world were able to participate.
The afternoon session began InFlectis is gearing up for Phase The CMTA will continue plan-
with a robust STAR research 2 trials. ning virtual education events
update led by CMTA Board Drs. Steven Scherer and and conferences in 2021 with the
Chairman Gilles Bouchard. He Stephan Züchner led the other hopes of having as many people
was joined by four researchers afternoon STAR breakout ses- take part as possible. k
who sit on the CMTA Scientific sion in an in-depth look at the Laurel is the CMTA director of commu-
Advisory Board: Drs. John progress being made with CMT nity outreach.
To view the 2020 Patient/Family Conference video recording, visit www.cmtausa.org/pfcs/.

WINTER 2021 THE CMTA REPORT 23