Weekly Spotlight - 31.10.24

In the News

Avidity Biosciences Advances FORTITUDE Trial for Muscular Dystrophy Treatment

Avidity Biosciences has launched a biomarker cohort in the FORTITUDE trial for delpacibart braxlosiran, targeting facioscapulohumeral muscular dystrophy. This potential therapy aims to reduce DUX4 gene expression, offering hope to patients. Initial results show significant improvements, with plans to complete enrollment by mid-2025.

Nanopore Sequencing Revolutionises Prenatal Diagnosis of Muscular Dystrophy

Nanopore sequencing offers a hopeful advancement in prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 (FSHD1). This method accurately identifies genetic markers, providing reassurance to expectant parents. The study highlights its effectiveness in detecting monogenic diseases, marking a significant step forward for families facing genetic challenges.

Muscular Dystrophy and Scapular Winging: Key Insights for Physicians

Muscular dystrophy, particularly facioscapulohumeral dystrophy (FSHD), can cause unilateral scapular winging, often misdiagnosed as neurogenic. This article highlights FSHD's key clinical features to raise awareness among physicians, ensuring better diagnosis and support for patients experiencing shoulder weakness and asymmetry.

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