The design, baseline characteristics, and 6-12 months follow-up from a LGMDR9 European multi-center natural history study, S Olivier (Atamyo Therapeutics) et al.

Myology 2022 Annual Meeting, Nice (France) on September 12-15, 2022

Introduction

• FKRP-related LGMDR9 is an autosomal recessive limb-girdle muscular dystrophy, a class of genetic muscle diseases characterized by progressive weakness predominantly in proximal limb muscles.
• LGMDR9 is highly variable in presentation, as patients can either present a severe weakness with rapid deterioration and loss of ambulation in their teens or a later onset with milder disease evolution. The average age at diagnosis is 30 years.
• Patients with LGMDR9 are prone to respiratory involvement and dilated cardiomyopathy.
• Some ambulant patients may require non-invasive ventilation (NIV) with the earliest sign of involvement being diaphragmatic and a drop in their forced vital capacity (FVC).
• To reinforce published data on the natural history of LGMDR9 and expand the geographic outreach, Genethon launched a natural history study (NHS) in three European countries (NCT03842878), which will function as a non-concurrent control group for the gene therapy trial (NCT05224505) sponsored by Atamyo.
• Atamyo coordinated discussions with experts ensuring that the selection of parameters measured in the NHS and the gene therapy trial are robust and clinically meaningful.