SBMA/IH

Neurol Genet 2021 Jul 7;7(4):e607.  

Spinal and Bulbar Muscular Atrophy (SBMA) and Indigenous Health (IH) 

Spinal and Bulbar Muscular Atrophy (SBMA), also known as Kennedy’s disease, is a rare X-linked neurodegenerative disorder that primarily affects males. It is characterized by the progressive loss of motor neurons in the spinal cord and brainstem, leading to muscle weakness, impaired mobility, and difficulties with speech and swallowing. Despite its significant impact on quality of life, there are currently no therapies that effectively target the genetic cause of SBMA.

A recent study led by a graduate student in our lab revealed a strikingly high prevalence of SBMA in Indigenous communities in Western Canada. This finding underscores a critical health equity gap, as affected individuals in these communities often face additional barriers to diagnosis, care, and participation in clinical research.

Building on our lab’s success in developing FDA-approved antisense oligonucleotide (ASO) therapies for muscular dystrophies, we are now pioneering an ASO-based approach for SBMA. ASOs are short, synthetic strands of nucleic acids designed to bind selectively to RNA. By binding to their target RNA, ASOs can reduce harmful protein production or promote the degradation of disease-causing transcripts.

Our SBMA project focuses on designing ASOs that target the expanded CAG repeat in the androgen receptor (AR) gene—the underlying genetic mutation responsible for the disease. We are evaluating their effectiveness in both cell and animal models, with the goal of advancing to clinical trials in the future.

What sets our work apart is its emphasis on community-specific genomic variations and Indigenous partnership. This ensures that the therapies we are developing are not only scientifically robust but also culturally responsive and tailored to the needs of the communities most affected. Through this research, we aim to close longstanding gaps in SBMA treatment and significantly improve health outcomes for Indigenous individuals living with this debilitating condition.

Last updated: 3 April, 2025