This year has been like no other. A “perfect storm” of an unrelenting worldwide pandemic coupled with deep-seated division and unrest here in the U.S. And just as Covid began to spread across our country, Talia’s CMT4J decided to progress further, making it even more difficult to breathe or even sit, as her scoliosis curve increased rapidly, creating a perfect storm within her own body.
After spending the next three months waiting for hospital ORs to open up again Talia finally underwent total spinal fusion, an extremely difficult surgery not uncommon to people with CMT4J and other neuromuscular diseases. Since June, Talia has been working hard to regain lost strength and breathing, all the while with her familiar grace, grit and enthusiasm.
Unfortunately, our story is not unique. Families across the globe continue to battle this same, unrelenting storm until we reach our ultimate goal of bringing forward a treatment or cure for CMT4J.
SO, WHERE DOES THE RESEARCH STAND?
■ AAV9/FIG4 GENE THERAPY TRIAL
Our gene therapy trial continues to move forward, under the direction of our biopharma collaborator, Neurogene. We have encountered and overcome unforeseen roadblocks in manufacturing. Additionally, regulatory guidelines continue to become more strict, as the gene therapy space grows.
When Covid-19 began to spread, research for rare diseases shut down as all available resources were directed toward developing treatments and vaccines for the virus. Across the world, labs shuttered overnight, in the wake of forced shutdowns due to spread of the virus. Thankfully, CMT4J research continues to push forward, albeit much more slowly than any of us would like. The hope of a first-in-human gene therapy clinical trial for CMT4J is still looking possible for 2021. And while this seems achingly slow, the milestones and timeline we have achieved thus far—BECAUSE OF YOUR HELP–have been cut in half when compared with traditional research pathways.
■ UNIVERSITY OF MICHIGAN SPONSORED RESEARCH AGREEMENT
ASO Treatment Development: This is a process of gene editing with a synthetic “band-aid” of DNA to either patch or remove the malfunctioning part of the FIG4 gene. We have received some early information about our first approach and continue to explore ways of using this technology toward a treatment.
Drug Repurposing: Together with our UMich researchers, CureCMT4J is working on a potential biopharma collaboration using scientific-based artificial intelligence and a process called high throughput sequencing to identify already FDA-approved drugs that might also work as a treatment for CMT4J. Repurposing already-approved drugs for other diseases is a much faster path toward getting to and actually trying treatments in people with CMT4J, either using drugs off-label or running new clinical trials and obtaining FDA-approval for rebranding.
Novel Lysosomal Protein Development: This work continues to show promise, providing alternative pathways toward gene therapies and other gene editing procedures. This would ultimately enable shorter timelines and lower costs toward manufacturing gene-specific treatments for CMT4J.
RESEARCHER HIGHLIGHTS AND MORE UDPATES
■ CURECMT4J COLLABORATION WITH THE BROAD INSTITUTE:
Samantha Baxter photo courtesy of the Broad InstituteThanks to the Broad Institute, here in Cambridge, MA, we now have greater insight into just how many people in the world might be living with CMT4J. The Broad’s Samantha Baxter, a Senior Clinical Genomics Specialist and Genetic Counselor, performed a frequency analysis for our FIG4 gene—a process that took several months of research through many genomic databases, ultimately revealing that there are likely between 6,000 and 9,000 CMT4J patients in the world! Most of these people are obviously still undiagnosed or misdiagnosed. Now we need to find them! The prospect of a larger disease population opens up many more possibilities for therapeutic development.
We could not do any of this without you. But time is truly running out.
Because of the pandemic, all of our typical in-person fundraising events have been silenced.
On this Giving Tuesday and in this season of giving, we hope you might take a moment to visit our donation page and continue to support our efforts as we weather these storms together.