Cure Rare Disease (CRD) has been awarded a $5.69 million grant from the California Institute for Regenerative Medicine (CIRM) to advance its gene therapy program for spinocerebellar ataxia type 3 (SCA3), a neurodegenerative disorder that currently has no available treatment.
This significant grant will support the development of an antisense oligonucleotide (ASO) therapy aimed at treating SCA3, a disease that causes progressive nerve cell damage and is characterized by motor difficulties, balance issues, and eventual disability. CRD first launched its SCA3 program in 2021 with initial funding from Gregory Klassen, a patient living with the condition.
The partnership between CRD and Leiden University Medical Center, along with in vivo studies conducted in collaboration with Charles River Labs, has already shown promising results in preclinical mouse models. These studies, conducted in 2022 and 2023, demonstrated functional improvements in the disease model, paving the way for the identification of a clinical candidate.
A major milestone for the project occurred in 2024, when CRD participated in a Type B pre-IND meeting with the U.S. Food and Drug Administration (FDA), receiving vital regulatory guidance for the therapy’s next steps, including manufacturing scale-up and clinical trial design.
The CIRM funding will be used to support crucial next steps in the therapy’s development, including the completion of manufacturing scale-up, IND-enabling toxicology studies, and the submission of an Investigational New Drug (IND) application to the FDA. If successful, the IND approval will allow CRD to initiate early-stage clinical trials for SCA3. Dr. Susan Perlman from UCLA will serve as the Principal Investigator for the trials.
“This program exemplifies the power of collaboration across patients, researchers, organizations, and regulatory bodies,” said Richard Horgan, CEO and Founder of Cure Rare Disease. “From Greg Klassen’s initial support to our partnerships with leading scientists and FDA guidance, the development of an SCA3 therapy has been a collective effort. We are incredibly grateful for CIRM’s support as we work to bring this treatment into clinical trials, demonstrating that innovative, patient-driven models can lead to treatments for rare diseases.”
About Spinocerebellar Ataxia Type 3 (SCA3)
Spinocerebellar ataxia type 3 (SCA3) is a rare neuromuscular disorder affecting one to five people per 100,000 individuals, making it the most common form of spinocerebellar ataxia. It is caused by mutations in the ATXN3 gene, which produces the ataxin-3 enzyme. This enzyme plays a role in removing damaged proteins, but mutations lead to the accumulation of toxic trinucleotide repeats, causing the progressive degeneration seen in patients with SCA3.
About Cure Rare Disease (CRD)
Cure Rare Disease is a nonprofit biotechnology company focused on developing genetic therapies for rare and ultra-rare diseases. The organization aims to accelerate the development of treatments for these conditions using a patient-centric approach to research. CRD’s portfolio includes gene therapies and ASO treatments for a variety of rare diseases. For more information, visit www.cureraredisease.org.
About the California Institute for Regenerative Medicine (CIRM)
The California Institute for Regenerative Medicine is a state-funded agency dedicated to advancing regenerative medicine research and delivering treatments for patients with unmet medical needs. Established in 2004 through the passage of Proposition 71, CIRM initially received $3 billion in funding from the state of California, followed by an additional $5.5 billion in 2020 under Proposition 14. CIRM’s investments in stem cell and genetic research aim to stimulate economic growth and improve the quality of life for diverse communities across the state.
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