Dear Friends of CMTRF,

In preparing for another busy year at CMTRF, I took some time recently to look back at the accomplishments of 2022. I am immensely proud of what our team has achieved (summarized below) and I believe it underscores how CMTRF adds significant value to the entire CMT Research ecosystem as we move toward clinical trials. Consider:

  • CMTRF’s singular focus on research
  • A commitment to look beyond traditional CMT approaches at other compounds, delivery platforms, and gene therapy solutions that might work for CMT. This has brought new companies and researchers to the field.
  • The tremendous sense of urgency that drives us. Our families and staff are in a hurry to identify the best science that will solve CMT.
  • A belief in the importance of convening scientists, geneticists, biotech companies, pharmaceuticals, investors, and patients for open discussion to accelerate the discovery of treatments
  • An understanding that collaboration with other organizations can further progress towards a cure. At the end of the day, it doesn’t matter who finds a cure – just that one IS found!

Here is a brief recap of 2022 and the work we have funded together.

FEBRUARY – Dr. Chris Lorson and Dr. Michael Garcia, at the new NextGen Precision Health Institute at the University of Missouri, successfully complete Milestone 1 for a gene therapy project for CMT2E.

MAYShift Pharmaceuticals completes a project to develop a novel treatment for CMT1A that uses artificial genetic material to trick cells into producing less PMP22.

JULY – A partnership between Dr. Alessandra Bolino at the San Raffele Hospital in Italy and Acurastem, a California biotech company, to develop a PIKfyve inhibitor in CMT4B1, a particularly devastating form of the disease, passes the first stage by demonstrating effective delivery of the therapeutic compound to the peripheral nerves.

JULYAfrooz Rashnonejad, PhD, Principal Investigator at Nationwide Children’s Hospital Center for Gene Therapy, pursues a ‘knockdown and replace’ methodology to silence the expression of the mutated gene in CMT1B and replace in with a healthy gene.

JULYCMTRF announces a new project with ORYZON, a clinical stage pharmaceutical company based in Spain. ORYZON has identified potent but safe HDAC6 inhibitors which are promising as potenital therapeutics for several forms of CMT, including the most common form – CMT1A.

AUGUST – A CMT1A gene therapy project that was a collaboration between Dr. Kleopas Kleopa of the Cyprus Institute for Neurology & Genetics and Dr. Scott Q. Harper of Nationwide Children’s Hospital (Columbus, Ohio) was licensed by Armatus Bio for further development and potential clinical trials.

SEPTEMBER – The second Global CMT Research Convention confirms the CMTRF has a special role in gathering patients, researchers, clinicians, biotech, and pharmaceutical companies to explore developments and collaboration opportunities to accelerate advancements in CMT therapeutics. We have even bigger plans for 2023.

SEPTEMBER DTx Pharma, Inc. (DTx) announces at the CMTRF Global Convention that it is working towards clinical trials for CMT1A in 2023. But before CMTRF met with them in 2019, DTx hadn’t heard of CMT.

OCTOBER – A partnership launches with Samsara Therapeutics dedicated to further optimizing autophagy – the proces by which cells recycle damaged or dysfunctional components – that may eventually become a treatment option for CMT patients.

DECEMBERThe Muscular Dystrophy Association (MDA) and CMTRF jointly fund a study by Alessandro Bolino, PhD, at San Raffaele Hospital, Italy, that hopes to restore normal transport of myelin in CMT patients.

 IT WAS A COUNTRY MUSIC YEAR AT CMTRF: Our partnership with Alan Jackson’s Last Call Tour resulted in a little over $400,000 in donations to the Foundation. The funds came from concert ticket sales, as well as support from Country Music Television and country singer Chris Stapleton, as well as a very generous Arizona donor who created a $250,000 match which was achieved.

AND THE ENDGAME CAPITAL CAMPAIGN CONTINUED: The $10 million, 3-year Endgame Campaign, launched in 2021, has raised more than half ($5,723,789) of its goal.

With three new projects soon to be announced and a full scientific pipeline of proposals to evaluate, we look forward to another year of significant progress. None of this would be possible without all of you – donors, supporters, scientists, and patients – who share your talents, your stories, your energy, and your COMMITMENT to bringing hope and therapies to CMT patients globally.