CHDI 2025

Allele-selective lowering in HD: From bench to bedside

In this presentation we will share for the first time preclinical data from our allele-selective huntingtin-lowering program, HTT SNP ASO. In order to accurately identify individuals who could benefit from this approach, we have developed a novel SNP phasing assay capable of identifying distant intronic and exonic SNPs in phase with the expanded CAG mutation, paving the way for identifying multiple SNPs in parallel.

Development of a long-read phasing assay for allele-specific patient inclusion for Roche HTT SNP ASO program

This poster describes the development of an innovative assay that allows phasing of distant intronic SNPs with the expanded CAG repeat that causes Huntington’s disease (HD). The assay is a prerequisite for selecting individuals with HD who could benefit most from allele-selective antisense oligonucleotide treatment.

Towards disease modifying treatments in HD: An update from Roche

In this presentation we share Roche's and Spark's commitment in HD which expand from therapeutic development of diverse approaches to tacke HD to efforts to contribute more broadly to the HD community and advance scientific knowledge and understanding of the pathophysiology of the disease. These range from running observational studies to pioneering data sharing and harmonisation efforts in partnership with HD-RSC and CHDI.

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CHDI 2025