CIRM Awards Cure Rare Disease $5.7 Million to Advance ASO for Rare Neurodegenerative Disease

Rare Daily Staff

The California Institute for Regenerative Medicine awarded Cure Rare Disease a $5.7 million grant to advance the development of an antisense oligonucleotide therapy for the rare neurodegenerative condition spinocerebellar ataxia type 3.

Spinocerebellar ataxia type 3 (SCA3) is the most common form of spinocerebellar ataxia. The disease is caused by mutations in the ATXN3 gene, which codes for the enzyme ataxin-3. Ataxin-3 is found throughout the body and helps destroy and remove damaged proteins. SCA3 results from a mutation that causes a toxic accumulation of trinucleotide repeats. There is currently no approved therapy to treat the condition.

Cure Rare Disease launched its SCA3 program in 2021 to develop an antisense oligonucleotide therapy, with initial funding support provided by Gregory Klassen, a patient living with SCA3.

In 2022 and 2023, in collaboration with Leiden University Medical Center and the Cure Rare Disease team, several in vivo studies were conducted in a disease mouse model, demonstrating functional improvement. A clinical candidate was identified through non-GLP toxicology studies conducted with Charles River Labs. In 2024, a Type B pre-IND meeting with the Food and Drug Administration (FDA) provided regulatory guidance ahead of manufacturing scale-up and clinical trial design.

With CIRM funding support, Cure Rare Disease will complete manufacturing scale-up, conduct IND-enabling toxicology studies and apply to initiate early clinical trials. The trials will be led by principal investigator Susan Perlman at UCLA.

“This program is a powerful example of what can be achieved when patients, organizations, researchers and governing bodies come together with a shared mission,” said Cure Rare Disease CEO and founder Richard Horgan. “From Greg Klassen’s initial support to our collaborations with leading scientists and clinicians, industry partners and regulatory guidance from the FDA, the development of a therapy for SCA3 has been a truly unified effort.”