We hope you had a restful Summer full of adventures and reconnecting with friends and family. At CureCMT4J we continue to push toward treatments for CMT4J, despite roadblocks and the repercussions from a global pandemic.
In the wake of Covid, a down-turning economy, shuttered labs, disrupted clinical trials and natural history studies, and endless supply chain problems, many biopharma companies have abandoned rare disease indications, cutting them from pipelines and halting further research.
As part of this movement away from Rare Disease, CureCMT4J was informed that Neurogene–the biopharma working on our gene therapy program—had made the decision to cease work on CMT4J. Many of our rare disease organization colleagues find themselves in similar circumstances. Several had been with a biopharma who whittled its rare disease pipeline of rare disease gene therapies from 26 down to 3. Dozens of us are now scrambling to pick up the pieces and move our gene therapy programs forward again.
Despite all of these hurdles, I still see HOPE.
After three long years, I see a way forward. We have the science to get there. We have a world class research team to help us move mountains. We have potential partnerships with industry and academia to carve the path forward OURSELVES.
And WE HAVE THE TREATMENT—it is sitting on a shelf until we can raise the necessary funds to manufacture it, test it, and begin a clinical trial.
We need the funding to get it out of the lab and into our patients. We’re leaving no stone unturned in our pursuit of new partnerships, grants, and philanthropic relationships to help us get there. As I write, we have identified two potential viable pathways forward–see “NIH Bespoke Gene Therapy Platform” below. The other is a potential partnership that we hope to have more information on in the next few weeks.
It feels like forever since we started this journey. What we thought was a sprint has turned into a marathon—or perhaps a 10K, as one of our key researchers is forever reminding that what we’ve accomplished in 5-6 years typically takes 10-13 years in the “normal” channels of science and research.
Despite the many challenges, we have much to celebrate and much to look forward to. We will not give up. We hope you won’t give up on us.
Please read on to find out what we’ve been up to!
With love, so much gratitude, and HOPE.
Jocelyn and the CureCMT4J Team
NIH BESPOKE GENE THERAPY PROGRAM SELECTS CMT4J AS FINALIST!
This past summer we received word that our CMT4J application to the National Institutes of Health (NIH) Bespoke Gene Therapy Consortiumwas selected as one of the finalist rare disease indications for the opportunity to submit a formal clinical trial proposal. After this final review stage the NIH will select five or six rare diseases to include in their pilot gene therapy platform program. “The AMP Bespoke Gene Therapy Consortium (BGTC) aims to develop platforms and standards that will speed the development and delivery of customized or ‘bespoke’ gene therapies that could treat the millions of people affected by rare diseases” (nih.gov; NIH/AMP/BGTC; 7/22/22).
This nomination speaks volumes to the rigor of our science and published work (https://www.jci.org/articles/view/137159), the caliber of our incredible research team, and to the work of our foundation. Thank you to the NIH for recognizing the dire need to move the needle on these programs that have all of the necessary science in place, but lack the funding to move forward. We’ll keep you posted!
CMT4J NATURAL HISTORY STUDY
Data from the CMT4J Natural History Study, funded by Neurogene, has been made available to our researchers. CureCMT4J is collaborating with Dr. Michael Shy (at left), at the University of Iowa, and Dr. Reza Seyedsadjadi (below), at Massachusetts General Hospital. Both are directors of CMT Centers of Excellence at their respective institutions. Dr. Shy is a renowned expert in Charcot Marie Tooth diseases. Dr. Seyedsadjadi has a special interest and expertise in outcome measures for clinical trial design.
If you participated in the natural history study, we extend our sincere gratitude to you! More than twenty patients and their families, from all over the United States and as far away as India, Brazil, and the UK took part in the study. We recognize the many sacrifices you made, sacrificing work and family time, traveling with medically fragile children, and continuing to do so in the midst of a global pandemic. Your participation provided researchers with important information about how CMT4J presents and progresses and how we can better design clinical trials and therapeutic development to address the needs of our patient community. Thank you for your contributions!
DRUG REPURPOSING PROJECT NEARING COMPLETION
We’re in the final stages of our CureCMT4J-funded project withModelis, where we developed CMT4J worm models to test thousands of FDA-approved drugs and molecules. If we can identify an already-existing drug as a treatment, with a known safety profile, then getting that treatment into humans is so much easier and faster.
We’re currently whittling down the number of successful hits to test further, with the aim of identifying lead candidates by end of year. To find out more, visit our website here!
POTENTIAL CMT4J BIOMARKER IDENTIFIED
Our researchers at The Jackson Laboratory are still hard at work—this time on a project looking at a specific biomarker that could tell us how the disease is progressing, and possibly, whether someone is responding to treatment. The research is on-going, but has the potential to be useful in clinical trials. We’ll keep you posted!
CURECMT4J PATIENT AND FAMILY MEETING – March 5, 2022
Our first virtual patient and family meetup was a huge success! Our meeting was led by our esteemed speakers:
- Dr. Diana Castro, MD – Co-Principal Investigator on the CMT4J natural history study and CMT4J pediatric expert
- Dr. Guy Lenk, PhD – University of Michigan Meisler Lab researcher and FIG4 gene expert
- Ken Cornell, CO, FAAOP – Expert in CMT-specific orthotics and prosthetics fitting and design.
Our experts shared valuable information and insights with our patient community. In turn, our families had excellent questions for our experts! We hope to continue with these virtual meet-ups. If you have a child with CMT4J, or have CMT4J yourself, we’d love to hear about specific topics or formats that are of interest to you!
If you have a child with CMT4J, or have CMT4J yourself, we’d love to hear about specific topics or formats that are of interest to you!
WE CAN’T DO THIS WITHOUT OUR RESEARCHERS!
CURECMT4J RESEARCH ROUNDTABLE – May 3, 2022
This past Spring we brought together experts in CMT4J, the FIG4 gene, neuromuscular diseases, and rare disease translational science in an effort to continue to examine and identify the best pathways toward treatments for CMT4J and FIG4-related diseases. Our researchers shared unpublished data openly as a way to work together more efficiently.
From the beginning, we’ve surrounded ourselves with world-class researchers and clinicians. Through all of the challenges and frustrations we’ve encountered along the way, we’ve also gotten to know some of them as humans, supporting our efforts every step of the way, and always keeping patients’ interests front and center. To learn more about our ever-expanding team of researchers, visit our website here!
RESEARCHER HIGHLIGHT!
Dr. Guy Lenk, our “gene expert” genetics researcher at the University of Michigan’s Meisler Lab has been working with us on identifying potential drugs to treat CMT4J. A journal article highlighting some early results of this research is coming soon!
Guy has more than a decade of work studying the underpinnings of the FIG4 gene and its affiliated gene/protein complex. All of this work is invaluable as we continue to develop treatments for CMT4J and FIG4-related disorders.
SCIENCE IS COOL!
Below is a diagram of the FIG4 gene complex. Many of these networks have been elucidated and described by Dr. Lenk over the years, including the framework and mechanisms of the FIG4 gene, itself. Recently, this type of information was compiled using AI to create a database of 3-D illustrations of proteins and genes. You can check it out here, as part of Deep Mind’s Alpha Fold Protein Structure Database!
SHOUT-OUTS AND GRATITUDE!
ENORMOUS THANKS GO OUT TO TWO AMAZING SUPPORTERS!
Once again, Sarah Eliot organized the third running of our Chase the Butterfly 3-mile run. After a two-year hiatus due to Covid, Sarah’s hard work raised nearly $10,000 for CureCMT4J!
Enormous thanks go out to Sarah and her parents, Kate and Pete, and all of our sponsors for their never-ending support and kindness!
TEAM DANNY – Inaugural CureCMT4J Run in San Diego!
On the same day as Chase the Butterfly, an inaugural 5k took place on the other side of the country! Jacklyn Strauss organized Danny’s Run for CureCMT4J in honor of her son, Danny, who has CMT4J. They raised nearly $5,000! Thank you to Danny, Jacklyn, and all of their friends and family who came out to help us raise funds for research!
HOW CAN YOU HELP?
We need you!
We always need help! If you believe you have expertise and interest in any of the following areas, we’d love to hear from you!:
RESEARCH/SCIENCE– we could always use some extra eyes to scan and scour the medical literature, looking for relatable research papers and approaches to treatments being used by similar diseases. Do you have experience in medicine, research, bioinformatics, or epidemiology? Can you read and interpret scientific studies? Please reach out at jocelynaduff@gmail.com
FUNDRAISING
Want to host a fundraiser for CureCMT4J? Go to our website for some ideas and then get in touch: http://www.curecmt4j.org/get-involved/.
SHOELACES!
We have lots of CureCMT4J shoelaces if you’d like to use them in your fundraiser! (suggested donation $5/pair … individual non-event lace orders = $5/pair + shipping). Contact us at: jocelynaduff@gmail.com
FACEBOOK BIRTHDAY FUNDRAISERS!
Want a simple way to fundraise for and spread the word about CureCMT4J ? If you have a Facebook account you can host a Birthday Fundraiser every year on your special day! Go here to find out how to do it: https://www.facebook.com/help/1910205189301966/ Facebook receives no money raised in these online FB fundraisers
Or DONATE on a one-time or monthly basis on our website!
Thank you!!!
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