A new paper, “Motor Function in LGMD2A/R1: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness,” was recently published in the journal Neurology: Genetics. This important, C3-funded initiative is a testament to international cooperation, bringing together leading LGMD researchers. They leveraged clinical data collected from 92 individuals with LGMD2A/R1, ultimately advancing the understanding of how best to assess and quantify the impact and progression of this condition.
Melissa A. Smith, Dionne Moat,
Jassi Michell-Sodhi, Karen S.W. Wong, Emma Grover, Emma-Jayne Robinson, Anna G. Mayhew, Michelle Eagle, Maha Elseed,
Michela Guglieri, Volker Straub, Chiara Marini-Bettolo, Robert Muni-Lofra, Jordi Diaz-Manera, Linda Pax Lowes, and Lindsay N. Alfano
Study participants were evaluated at LGMD patient conferences, at Nationwide Children’s Hospital (Columbus, Ohio), and at the John Walton Muscular Dystrophy Research Centre (Newcastle upon Tyne, UK). Tests included:
- North Star Assessment for LGMDs (NSAD): 29 items related to tasks of daily life, including getting out of bed, standing up, and stepping up a curb
- Performance of Upper Limb (PUL): how well arms and hands function
- 100 Meter Timed Test (100MTT): how fast someone can walk or run 100 meters
The researchers found that NSAD and PUL work well both for people who can walk and for wheelchair users. The 100MTT was especially useful for the strongest participants and those who do not show any noticeable muscle symptoms.
This research helps inform healthcare professionals about how to accurately track symptom progression. It also prepares the field for future clinical trials, so that changes in strength and movement can be meaningfully and reliably measured.
Click here to access the paper. The C3 team is extremely grateful to the families and patients for their participation in this study.