Despite its ultrarare prevalence, MFM13 is an area of active research. Several academic groups in the USA and Europe work on elucidating the mechanisms behind the disease and developing treatments. The results of their work are published in scientific journals, below we list key academic groups and publications.

One treatment avenue researchers are pursuing is using trehalose to ameliorate the symptoms. Here you can find our summary about trehalose and HSPB8 myopathy.

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Introduction

Myofibrillar Myopathy type 13 with Rimmed Vacuoles (MFM13) previously known as HSPB8 (Heat Shock Protein family B (small) member 8) Myopathy is an ultra-rare, adult-onset, muscle wasting condition caused by mutations in HSPB8 gene. Inherited in autosomal dominant fashion, MFM13 was first described in 2016 by Ghaoui et al., and since then eight case studies have been published, describing around 30 patients worldwide (Ghaoui et al, 2016; Echaniz-Laguna et al, 2017; Cortese et al, 2018; Al-Tahan et al, 2019; Nicolau et al, 2020; Inoue-Shibui et al, 2021, Tan et al., 2024, Yang etal., 2024 ). However, MFM13 is not routinely included in genetic myopathy panels and therefore heavily underdiagnosed. 

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