More collaboration within the CMT research and patient community would help us get to treatments and a cure much faster.

Thomas Durcan, an Assistant Professor for neurodegenerative disorders at McGill University recently wrote a very interesting appeal for neuroscientists to better collaborate in the search for a cure for Parkinson’s disease. “…we haven’t done a good enough job sharing our protocols and data in an open and accessible manner,” writes Professor Durcan, “so others can take the next step forward and avoid making the same mistakes or repeating the same experiments over and over again.”  In an effort to encourage more collaboration, Professor Durcan says he is willing to give away his own research data.  To which those of us involved in finding a cure for CMT, can only say, “Amen, brother!”

The CMT scientific community can do a better job of sharing its data.

Researchers who attend public scientific meetings focused on CMT tend to share their successes.  What is often missing from these presentations are the scientific failures. Professor Durcan advocates making failures public for others to learn from – and he is right.  Nonetheless, with full public disclosure comes the risk to the researchers that their hypothesis and early work could be appropriated by others with greater resources, thus losing the opportunity to publish their results. This is a scary proposition for many PIs, as their academic institutions reward them for the number of publications and significant scientific discoveries they make.  This part of the system is problematic to scientific discoveries.

We could all learn from the Spinal Muscular Atrophy scientific and patient communities, who have found ways to both protect their careers and research, while advancing development of treatments for SMA.  In fact, through the open communication and collaborative spirit, two drugs for SMA were approved within 30 months of each other: Spinraza on December 23, 2016 and then Zolgensma on May 24, 2019.

What can the CMT community learn from the successes within SMA?  Charlotte Sumner, MD and Professor of Neuroscience and Neurology at John Hopkins University and CMTRF Scientific Advisory Board member, co-directs both the SMA and the CMT clinics at Johns Hopkins.  She was involved in the development and clinical trials of both treatments for SMA and sees opportunities for the CMT community to do better.

“The progress that has been made in SMA is truly remarkable.  Certainly, the disease benefited from a single gene target and the possibility of showing efficacy fairly quickly in clinical trials of severely affected infants. Nonetheless, as I have observed and participated in the SMA field over the last 18 years, I have become convinced that the remarkable openness and collaboration amongst all the stakeholders: patients, families, academic researchers, nonprofit advocacy groups, and the pharmaceutical companies played a major role in therapeutic success.”   -Dr. Sumner

Research collaboration is critical to progress in CMT.  For example, when an expert in inflammation collaborates with an expert in modeling the disease, faster progress can be made.  As Professor Durcan stated, “Diseases of the [nervous system] are incredibly complex and getting even close to halting the progression – and developing a potential cure – takes a massive amount of fundamental research done through collaborations.” 

CMT is incredibly complex, potentially more so than some other neurological disorders, and requires collaborative efforts amongst academics, pharmaceutical companies, start-ups and non-profit organizations, all sharing in the unified goal to treat and cure Charcot-Marie-Tooth disease.

Currently there is already a small group of CMT researchers sharing their research, but there is no open forum for sharing CMT research in real-time, and there should be.  The CMT Research Foundation is transparent about the projects we fund.  We welcome discussions with other funders, advocates and researchers who want to advance therapeutic development for CMT.  Engaging the CMT research community in a collaborative, open forum will accelerate the development of treatments.  It is incumbent upon the academics and all patient advocacy groups to be inclusive if the primary goal is to deliver treatments and cures for CMT.

To learn more about how you can be a part of the conversation and collaborate for progress, visit www.cmtrf.org.