Background and Aims:

The International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) is a £5m, 5 year MRC Strategic award whose goal is to improve health outcomes for people with neuromuscular diseases (NMDs) globally. Activity is distributed across 14 Centres in Brazil, India, Turkey, South Africa, the United Kingdom and Zambia.

The ICGNMD aims to:

• deliver an international genomics research & capacity-building partnership in genomic medicine;

• facilitate international NMD patient access to accurate genetic diagnoses;

• assemble "trial ready" comprehensively phenotyped and genotyped cohorts of people living with NMDs and their families; and

growing clinical capacity in neuromuscular diseases by training a cohort of clinical academic researchers

Methods:

ICGNMD participants are consented at local centres. Details are entered into a secure REDCap ICGNMD database, with emphasis on use of HPO terms. Samples are analysed either locally or at University College London. Cross-site meetings determine the genetic testing strategy for each participant. Results are reviewed at cross-site MDT-style meetings. After a period of protected time for local analysis and capacity-building activity, data will be made available to the wider research community.

Results:

As of March 2021 1509 participants had been recruited. (South Africa 15%, India 50%, Brazil 15%, Turkey 20%, Zambia <1%).

Conclusions:

ICGNMD will deliver long-term clinical-academic research partnerships and engage with policy-makers and pharma to support equitable access to emerging treatments for patients with neuromuscular diseases. The project will serve as a resource for the international community for solving undiagnosed neuromuscular disease with an emphasis on understudied populations and understanding neuromuscular phenotypes in these groups.