Because of you, the pace of drug development for CMT accelerated!

As we close the books on 2019, I am excited to share the progress the CMT Research Foundation has made this year.  Because of you, these advancements were possible.

We have grown considerably in the past 12 months: in the breadth of research we support, in our Scientific Advisory Board expertise, and in our outreach to the drug development community which has come to know us as smart, strategic investors with uncompromising expectations and as a catalytic agent to bring together the best minds working on a cure for CMT.

Some of our primary accomplishments in 2019 include:

$1.5 million was raised from new and existing donors; the number of donors who supported the CMTRF doubled.  For many of our new donors, this is the first time they have ever supported any CMT-related research.

  • This includes a $150,000 matching challenge issued on Giving Tuesday that was met and exceeded – over $430,000 was raised in December.
  • One family committed $500,000 and another family gave $200,000 to the research efforts.

Fifteen research projects were reviewed and four were funded in 2019 totaling over $1 million.  

  • A gene therapy approach to silence the duplication of PMP22 in CMT1A.
  • A genetic approach to determine when drug intervention is optimal in CMT1B.
  • A small molecule discovery program using AI and patient-derived cells in CMT2A.
  • A new project was launched in December to advance a recent breakthrough in ASO therapy for CMT1A.  A partnership with DTx Pharma builds on previous work demonstrating that antisense oligonucleotides (ASO) can decrease the levels of PMP22 in the peripheral nervous system of mice. Currently, the ASOs cannot be safely delivered to the peripheral nervous system without toxic side effects.   DTx Pharma’s proprietary technology has the potential to render oligonucleotide therapy more potent, safer and longer-acting and to move this technology closer to the clinic for CMT1A patients.

All of the projects include a return on the investment if they are successfully licensed or commercialized. This model provides the opportunity to exponentially multiply donor dollars to be reinvested into CMT research.  Most importantly, two of the four projects funded by the CMTRF have already yielded significant research breakthroughs, one in CMT1A and one in CMT2A.

Five new experts joined the Scientific Advisory Board, bringing new perspectives to the CMT Research Foundation. There are now twelve leaders in CMT drug development volunteering for the SAB.

  • Dr. Jesse M. Cedarbaum has worked in drug development for movement disorders for most of his career. He brings his neurology and drug development expertise to the CMTRF.
  • Dr. Amanda Haidet-Phillips worked at the MDA, leading the research portfolio for CMT for several years.  She now works at AveXis, a drug development company with a focus in gene therapies.
  • Dr. Marina Kennerson has been working in the genetics of CMT for most of her career and is a champion for collaborative efforts in the Asian Pacific region.  Her deep ties to the CMT clinical and research community fosters global collaboration with the CMT Research Foundation.
  • Dr. Kelly Monk is a senior scientist and co-director of the Vollum Institute where she studies peripheral nervous system myelination.
  • Dr. William Motley trained at John Hopkins as a clinical neurologist and is now working at Third Rock Ventures, a firm specializing in translating scientific discoveries to breakthrough medicines.

Dr. Grace Pavlath joined the CMT Research Foundation as the Chief Scientific Officer.  Her expertise has been instrumental in curating research projects and investigators who are highly qualified to advance drug development for CMT.  Thanks to her, our SAB is robust and our research portfolio is funding the most urgent and critical projects.

Because of you, this progress is possible and hope is on the horizon for the development of treatments.  Thank you to all who have joined this movement to treat and cure CMT.  With your support and confidence, we will be successful together.

Best wishes for a happy 2020!  I look forward to working with you to make it a banner year for drug development for CMT.


Susan Ruediger, CEO