CIRM - California Institute for Regenerative Medicine
10/15/2024 | News release | Distributed by Public on 10/15/2024 13:05
Story of Hope: Elpida Therapeutics’ Pioneer Study on Rare Nerve Disease CMT4J
[Link]Image source: SickKids -Terry, Georgia, and Michael Pirovolakis
CIRM awarded Elpida Therapeutics a $3.9 million grantin December 2023 to support a pioneering preclinical study on Charcot Marie Tooth disease type 4J (CMT4J).
CMT4J is an ultra-rare, inherited condition that primarily affects the nerves outside the brain and spinal cord. It accounts for about 0.24% of all Charcot Marie Tooth (CMT) cases and is caused by biallelic-affecting both alleles of a gene-mutations in the FIG4 gene. CMT4J is also known as hereditary and sensory-motor neuropathy and is a deadly, devastating disease for which there is currently no available treatment or cure.
The disease can either begin early with rapid progression or develop later, progressing more slowly. Individuals affected by CMT4J experience movement and sensation problems due to nerve damage, and in rare cases, the disease may also cause issues in the brain and spinal cord, resembling Parkinson's disease.
This critical work could address key knowledge gaps, leading to better care and the development of potential treatments for those affected by this poorly understood condition. CIRM's support for this effort aligns with our mission to accelerate scientific advancements that transform lives.
Elpida Therapeutics is a clinical-stage company based in Los Angeles, founded by Terry Pirovolakis, a rare disease parent with a mission to treat children with rare diseases. Elpida aims to expedite the development of novel genetic therapies, moving them from proof of concept to the clinic and ultimately to FDA-approved therapies. As a Bespoke Gene Therapies Consortium leader, Elpida Therapeutics is committed to advancing cutting-edge treatments for rare genetic disorders.
Elpida Therapeutics has partnered with the Cure CMT4J Foundation, previously known as the Talia Duff Foundation, Inc. This foundation was established in the spring of 2016 by Jocelyn Duff, the mother of Talia, a teenage girl who was diagnosed with severe, early-onset CMT4J. Motivated by her daughter's diagnosis, Jocelyn founded this non-profit organization to raise funds and provide support for the research, development, and production of a therapy or cure for this life-threatening disease. The foundation's primary goal is to find a treatment for CMT4J and promote gene therapy as a potential solution for various rare genetic diseases.
By aligning resources and expertise, Elpida Therapeutics and the Cure CMT4J Foundation are working to deliver much-needed therapeutic options to patients suffering from this debilitating disease, addressing significant unmet medical needs within the CMT4J community.
Terry has gained significant social media attention for his innovative research on Spastic Paraplegia 50 (SPG50), a rare genetic disorder that affects his youngest son, Michael. Terry's story has been featured in media outlets worldwide, highlighting his dedication to advancing therapies for rare diseases.
On April 2, 2019, when Terry and his wife, Georgia, received the devastating news of Michael's diagnosis and were told there was no available treatment to prevent the paralysis he would face. This moment sparked the Pirovolakis family's mission to advance therapies for these conditions, reflecting their dedication to transforming the lives of families facing similar challenges.
Recently, CIRM connected with Terry to ask him about Elpida's focus on rare disease research and what it means for patients and their families.
Some responses have been edited for clarity and brevity:
CIRM: Could you tell us about your research and focus area?
Terry: We are dedicated to advancing innovative therapies from research to approval in order to improve the quality of life of children with rare monogenetic diseases.
CIRM: How does your research incorporate gene therapy?
Terry: Elpida Therapeutics is focused on delivering novel genetic therapies to treat children with monogenetic disorders affecting the brain. While most of our programs focus on gene therapies, we are also exploring ASOs, Gene Editing, and other emerging technologies.
CIRM: What would you like the public to understand about this disease or condition?
Terry: Rare isn't so rare! Over 40 million Americans live with a rare condition, and many could be treated or even cured with the technologies we are developing.
CIRM: Why is this research crucial, especially for patients?
Terry: Every day, thousands of families or loved ones are told to go home and cherish the time they have left with their child or family members. In many cases, this no longer has to be the reality. Technologies already exist to treat many of these devastating diseases-we just need leadership, funding, and, most importantly, the vision to bring them to fruition.
CIRM: CIRM has invested billions in stem cell and gene therapy research. In your view, why is continued funding from organizations like CIRM critical to advancing regenerative medicine and benefiting patients.
Terry: CIRM serves as the lifeline for innovative therapies that have the potential to cure not only the next generation but also the current one. No other organization or institution in the world is pushing the boundaries of research and technology in such a visionary way. The groundbreaking therapies developed through this bold approach will pave the way for cures that will impact us all.
CIRM: As CIRM approaches its 20-year anniversary, how would you describe the impact the organization has made over the years?
Terry: CIRM has played a pivotal role in advancing research and development in regenerative medicine. Over the years, CIRM's sustained commitment to innovation and patient-centric research particularly in neurodegenerative diseases has positioned California as a global leader in regenerative medicine, contributing to the potential for transformative cures and therapies. CIRM is the driving force behind the continued advancement of these life-changing innovations.