In a significant advancement for rare disease therapeutics, Cure Rare Disease (CRD) has secured a $5.69 million grant from the California Institute for Regenerative Medicine (CIRM) to accelerate the development of a groundbreaking gene therapy for spinocerebellar ataxia type 3 (SCA3).
Promising Preclinical Results Drive Development
The development program, initiated in 2021 with funding from SCA3 patient Gregory Klassen, has shown encouraging progress through collaborative research efforts. Working alongside Leiden University Medical Center, CRD conducted several in vivo studies in disease mouse models that demonstrated functional improvement. Subsequent non-GLP toxicology studies performed at Charles River Labs led to the identification of a promising clinical candidate.
Strategic Regulatory Advancement
The program achieved a crucial milestone in 2024 with a Type B pre-IND meeting with the FDA, which provided essential regulatory guidance for manufacturing scale-up and clinical trial design. The CIRM funding will support critical next steps, including manufacturing scale-up, IND-enabling toxicology studies, and the submission of an investigational new drug (IND) application.
Clinical Trial Preparation
Dr. Susan Perlman at UCLA will lead the upcoming clinical trials, marking a significant step forward in addressing this rare neurodegenerative condition. "This program exemplifies the power of collaborative efforts in rare disease research," stated Richard Horgan, CEO and founder of Cure Rare Disease. "From patient support to scientific partnerships and regulatory guidance, this unified approach demonstrates how innovative treatments can reach patients effectively."
Understanding SCA3
SCA3, affecting one to five in 100,000 people, stands as the most prevalent form of spinocerebellar ataxia. The condition stems from mutations in the ATXN3 gene, which produces the enzyme ataxin-3. This essential enzyme typically aids in eliminating damaged proteins throughout the body. In SCA3, a mutation leads to toxic accumulation of trinucleotide repeats, resulting in progressive neurodegeneration.
The antisense oligonucleotide therapy being developed represents a targeted approach to address the underlying genetic cause of SCA3, potentially offering hope to patients who currently have no treatment options.
