The International Dystrophia Myotonica Consortia, or 'IDMC’ (1997-present), represents a 'meeting place' or 'commons' of the international myotonic dystrophy research community. IDMC consists of scientists, physicians, and health care professionals from academia and industry, government regulatory and funding officials, and members of patient-support organizations, whose common aim is to understand disease mechanisms and develop therapeutics to improve the care of patients with myotonic dystrophy type 1 (DM1) and type 2 (DM2). The last IDMC meeting (IDMC-13) was in Osaka, Japan in June 2022. Despite the COVID-19 pandemic, the meeting successfully achieved its goal and initiated the plan for IDMC-14 (April 9-13, 2024, Nijmegen, The Netherlands).
Over the past quarter century, IDMC has contributed to substantial advances in our scientific and medical understanding of DM1 and DM2 disease mechanisms. These mechanisms include the disease-associated instability of DMPK CTG trinucleotide (DM1) and CNBP CCTG (DM2) repeat expansions, the toxicity of DMPK and CNBP mutant RNA transcripts due to MBNL protein sequestration and mis-splicing and repeat-associated non-AUG (RAN) translation. These discoveries have had profound impact on our understanding of disease onset, progression and the corresponding clinical manifestations. Such advances have led to the development of therapeutic strategies, which currently focus on silencing the toxic DMPK mRNA. In parallel, groundbreaking molecular technologies has led to the introduction of new treatments such as gene editing, small molecules to contract expanded repeats, correction of mis-splicing, and additional efforts to modulate disease-associated pathways. The IDMC will continue to work towards our common aim of improving the lives of patients with DM1 and DM2.
Tetsuo ASHIZAWA, M.D.
Maurice SWANSON Ph.D.