CIRM awarded Elpida Therapeutics a $3.9 million grant in December 2023 to advance a preclinical study on Charcot‑Marie‑Tooth disease type 4J (CMT4J).
CMT4J is an ultra‑rare inherited disorder that damages peripheral nerves. It accounts for about 0.24% of all Charcot‑Marie‑Tooth cases and results from biallelic mutations in the FIG4 gene. Also called hereditary sensory and motor neuropathy, CMT4J is a severe, life‑threatening condition with no available treatment.
The disease can begin early and progress quickly or appear later with slower decline. People with CMT4J develop major movement and sensory problems caused by nerve damage. In rare cases, it also affects the brain and spinal cord, producing symptoms similar to Parkinson’s disease.
Accelerating Research
This work fills major knowledge gaps and could lead to better care and new treatments for people living with this poorly understood condition. CIRM’s support reflects our mission to accelerate scientific progress that transforms lives.
Terry Pirovolakis founded Elpida Therapeutics, a clinical‑stage company in Los Angeles. The father of a child with a rare‑disease parent, Terry dedicated to helping children with genetic disorders. Elpida focuses on accelerating the development of genetic therapies and moving them from proof of concept to clinical testing as quickly and safely as possible.
The Work is Personal
Elpida partnered with the Cure CMT4J Foundation. Jocelyn Duff founded the organization in 2016 after her daughter, Talia, was diagnosed with severe early‑onset CMT4J. The foundation raises funds, supports research, and promotes gene therapy as a path for treating other rare conditions.
Elpida Therapeutics and the Cure CMT4J Foundation combined their resources and expertise to advance urgently needed therapies for the CMT4J community.
Pirovolakis gained broad attention for pioneering research on Spastic Paraplegia 50 (SPG50). SPG50 is a rare genetic disorder affecting his son, Michael. His work received global coverage .
On a Mission
On April 2, 2019, Terry and his wife, Georgia, received the devastating news of Michael’s diagnosis. There was no available treatment to prevent the paralysis he would face. That moment sparked the Pirovolakis mission find a cure, and advance therapies for these conditions.
Recently, CIRM talked to Terry 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:
Could you tell us about your research and focus area?
Terry: We are dedicated to advancing innovative therapies. We want to improve the quality of life of children with rare monogenetic diseases.
How does your research incorporate gene therapy?
Terry: Elpida Therapeutics focuses on delivering novel genetic therapies to treat children with monogenetic disorders of the brain. While most of our programs focus on gene therapies, we are also exploring ASOs, Gene Editing, and other technologies.
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. Many could be treated or even cured with the technologies we are developing.
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. 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 has invested billions in stem cell and gene therapy research. Why is CIRM funding critical to advancing regenerative medicine and benefiting patients.
Terry: CIRM serves as the lifeline for innovative therapies that could cure not only the next generation but also the current one. No other organization or institution in the world pushes 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.
As CIRM approaches its 20-year anniversary, how would you describe the impact the organization has made over the years?
Terry: CIRM 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 positioned California as a global leader in regenerative medicine. This contributes to the potential for transformative cures and therapies. A driving force for research, CIRM ensures advancement of these life-changing innovations.
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