Page 3 - 2021 Spring CMTA Report - Special Research Edition

Dear Friends,
As the CMTA approaches its fifth decade of research and service to the CMT community,
we thought the time was right to sum up—and celebrate—STAR, our Strategy to Accelerate
Research. In the past few years STAR has lived up to its name as never before. Our portfolio
of research means that virtually every person with CMT—no matter the type—is affected by
at least one of our 50 current projects, and there are more in the pipeline.
It has been 30 years since a CMTA Advisory Board member, Dr. James Lupski, MD, PhD, first
identified the gene that caused CMT1A. Before that, diagnosis depended on family history, clinical
examination of nerve and muscle function, electrodiagnostic testing and sometimes nerve biopsy.
In the following years the genetic causes of CMT1A, HNPP, CMT1B, CMT1D and CMT1X were
also pinpointed. The work continued but it was relatively slow going until 2008 when the CMTA
conceived and implemented STAR based on the lessons of venture capitalism described on
the next page.
STAR focused first on gathering the top experts and researchers in the field, then building an
amazing testing machine with the tests, animal models and stem cells needed to proceed.
Related to our portfolio approach, we tested potential treatments on animal models we
developed and worked with our partners to translate those to other types where possible. A MESSAGE
You’ll read more about our cross-type initiatives on page 6.
Thanks to the CMTA’s testing tools, models and experts, pharmaceutical companies have contacted FROM THE CEO
us in ever-growing numbers to test their drugs and technologies on CMT. Some companies use the
traditional “small molecule” approach, while others are leaders in the latest genetic and neurological Harnessing the
technologies such as CRISPR, gene therapy, gene silencing and axon and muscle regeneration. power of STAR
In recent years, the acceleration promised by STAR has gained even more momentum, like a
snowball rolling downhill. Since 2012, CMTA-funded initiatives have resulted in the discovery of 46 of
the 100 genes currently known to cause CMT. It’s an ongoing process and you’ll read more in these
pages about our current work on gene discovery.
You’ll also read about the CMTA’s extensive and ongoing gene therapy efforts, which now cover
CMT1A, CMT1X, CMT2A, CMT2D, CMT2E, CMT2F, CMT2K, CMT4A and CMT4C, utilizing a number
of different technologies, including AAV delivery, gene silencing, gene replacement and genome
editing using CRISPR-Cas9 and antisense oligonucleotides (ASOs).
The CMTA continues to lead the way in CMT research and today we are working in partnership
with the Inherited Neuropathy Consortium (INC) and our Centers of Excellence to get ready for
clinical trials. This means recruiting large numbers of patients, studying the evolution of CMT in them
and developing outcome measures and biomarkers to measure a given drug’s effectiveness quickly
and conclusively.
I hope this issue of The CMTA Report answers all your questions about STAR research. If you’d like
to go deeper, please visit cmtausa.org/our-research. And if you still have questions after that, please
feel free to contact me or Jeana Sweeney, the CMTA’s director of development. As always, our aim is
to keep you up-to-date and as hopeful about the future of our research as we are.

Best,

CMTA Chief Executive Officer

3