By: Susan Ruediger, CEO, CMT Research Foundation

“I am very confident that this decade we will have at least one treatment approved, if not more, for Charcot-Marie-Tooth disease.”

I nearly fell out of my chair when Dr. Sindhu Ramchandren said those words (and not just because my CMT causes me to have major balance issues). Delivering treatments and cures for CMT is possible during our lifetime — it’s the sole purpose I co-founded the CMT Research Foundation. But this was the first time I heard a board-certified neurologist and medical director like Dr. Ramchandren say it with such specificity.

In this decade.

For so long, kids and adults with CMT have had to live with daily pain and watch our bodies deteriorate without any treatments or cures. While other rare diseases like spinal muscular atrophy, ALS and multiple sclerosis now have multiple FDA-approved treatments, CMT patients have only one thing: Hope.

Hope is an important ingredient — necessary as a CMT community to keep up our spirits and our strength. But it’s time for the CMT community to have more than hope. It’s time for real progress toward treatments. For more time with the people we love most. For never having to worry about passing CMT on to another generation.

This year has brought great momentum in the fight against CMT. At the CMT Research Foundation, we are hearing from scientists that it feels like something special is in the air. Conferences and journals are full of new discoveries, fundamental problems in CMT are being solved, new genes are being discovered, and new drugs are being developed.

Turning Hope into Answers

During this season of gratitude, I’m thankful for the dedicated patient advocates, scientists, industry and academic leaders and supporters like you who are helping the CMT Research Foundation turn hope into answers.

Thanks to you, we can celebrate the following progress:

• Three patents have been filed by institutions the CMT Research Foundation is funding. This is significant because institutions will only go through the financial expense and laborious task of filing a patent for their intellectual property if there is strong evidence that a potential treatment could be viable for patients.
• Two research projects we’re funding are exploring the possibility of clinical trials, a promising indication for treatment potential.
• One of the research projects we’re funding has initiated talks with biotech companies about further developing and acquiring the program. This is critical as we work to translate academic research into treatments that pharmaceutical companies will invest in.
• Two CMT Research Foundation-funded partners have sought follow-on funding from private equity. By attracting large capital infusions from private equity, we can speed up the drug development process and start clinical trials faster.
• Our partner DTx Pharma received an NIH grant, which effectively quadrupled the CMT Research Foundation’s initial investment. This is an important example of how small amounts of funding from donors and patient advocates can turn into big dollars for research when groups like the NIH and others see positive results and invest more in the project.

Grateful for Advances in Gene Therapy

Recognizing the importance of gene therapies in curing human disease, the Nobel Committee this year awarded the Nobel Prize in Chemistry to Emmanuelle Charpentier and Jennifer Doudna for their discoveries related to CRISPR/Cas gene editing. This is the same technology being used in a CMT Research Foundation-funded project to create better mouse models for CMT1B.

The CMT Research Foundation is also funding four projects directly examining new gene therapies for CMT — two of which were announced in 2020. In these two new projects, researchers at Shift Pharmaceuticals and the University of Missouri are testing next generation gene therapy approaches for people with CMT1A and CMT2E, with potential application for other forms of CMT as well.

Our collective efforts are giving all of us with CMT more than hope by putting treatments within reach. That’s something to be thankful for this year. On behalf of everyone at the CMT Research Foundation, thank you for fueling our progress.

Join Us to End CMT

If you’re inspired by the progress we’re making together to deliver treatments and cures for CMT, please consider making a donation. Gifts made during December 2020 will be matched by a generous group of donors, up to $100,000, to double your impact. Every dollar you contribute supports research that’s exclusively focused on CMT drug development. Together, we will end CMT during our lifetime and for every future generation.