International collaboration to improve knowledge on myotonic dystrophy type 2.

Area of Science:

• Neurology
• Genetics
• Rare Diseases

Background:

• The TREAT-NMD Global Registry Network facilitates research for neuromuscular diseases.
• Myotonic dystrophy type 2 (DM2) is included in this global collaborative effort.
• Registries aim to improve collaborative research and clinical trial opportunities.

Purpose of the Study:

• To assess the characteristics of DM2 patients within the TREAT-NMD network.
• To analyze the socio-demographic and clinical features of registered DM2 patients.
• To establish the largest DM2 cohort for future research.

Main Methods:

• Data collection via email surveys from TREAT-NMD myotonic dystrophy core registries.
• Inclusion of DM2 patients from 10 participating registries.
• Analysis of socio-demographic and clinical data.

Main Results:

• 1,720 DM2 cases were identified across 10 registries.
• Czechia, Germany, and the USA had the highest patient enrollment.
• High DM2:DM1 ratios were observed in Central Europe, with a median age of 51 at registry entry.

Conclusions:

• This study represents the largest DM2 cohort assembled to date.
• The findings provide crucial demographic and clinical data for future research and trial recruitment.
• The study underscores the international reach of TREAT-NMD and the importance of DM2 data collection.