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Rare disease spotlight: treating a facial muscular dystrophy at its root

ARTICLE | Product Development

As the most advanced FSHD programs aim to reduce muscle cell death, the next wave is targeting the disease’s genetic cause

By Danielle Golovin, Senior Biopharma Analyst and Gunjan Ohri, Data Content Analyst

February 21, 2024 1:18 AM UTC

The FSHD pipeline has had some failures, but a new set of companies is bringing fresh ideas that could change the narrative. Behind the field’s leader, which will report Phase III data this year, at least eight companies are aligning behind a new goal — attacking the disease at its genetic root — using a variety of therapeutic modalities including antibody-oligonucleotide conjugates and epigenome modifiers.

Facioscapulohumeral muscular dystrophy (FSHD) type 1 is an autosomal dominant genetic disorder caused by a mutation in the DUX4 gene on chromosome 4 that causes progressive muscle weakness that typically starts in the face, shoulders and abdomen. In healthy individuals, the DUX4 gene is active during embryogenesis but is then silenced via hypermethylation of its D4Z4 region. People with FSHD have a mutation that causes a contraction of the D4Z4 region, leading to reduced methylation and continued expression of DUX4 after embryonic development…