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 represents about 0.24% of all Charcot‑Marie‑Tooth cases and results from biallelic mutations in the FIG4 gene. Also known as hereditary sensory and motor neuropathy, CMT4J is a severe, life‑threatening condition with no available treatment.
The disease can begin early and progress rapidly, or appear later with slower decline. People with CMT4J experience significant movement and sensory problems caused by nerve damage. In rare cases, it can also affect 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.
Elpida Therapeutics, a clinical-stage company in Los Angeles, was founded by Terry Pirovolakis, a rare‑disease parent dedicated to helping children with genetic disorders. Elpida accelerates the development of genetic therapies, moving them from proof of concept to the clinic and, ultimately, to FDA-approved treatments. As a leader in the Bespoke Gene Therapies Consortium, the company focuses on advancing innovative therapies for rare diseases.
The Work is Personal
Elpida has partnered with the Cure CMT4J Foundation, formerly the Talia Duff Foundation. Jocelyn Duff founded the organization in 2016 after her daughter, Talia, was diagnosed with severe early‑onset CMT4J. The foundation raises funds and supports research to develop a therapy for this life‑threatening disease and promotes gene therapy as a pathway for treating other rare conditions.
Together, Elpida Therapeutics and the Cure CMT4J Foundation are combining resources and expertise to advance urgently needed therapies for the CMT4J community.
Pirovolakis has also gained broad attention for pioneering research on Spastic Paraplegia 50 (SPG50), a rare genetic disorder affecting his son, Michael. His efforts have been featured globally, underscoring his commitment to advancing rare‑disease treatments.
On a Mission
On April 2, 2019, when 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. 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:
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. 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.
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.
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