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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

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Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.

Stephanie M Hunn¹, Lindsay N Alfano^2,3, Aileen Jones⁴

¹Washington University School of Medicine, St. Louis, Missouri, USA.

Annals of Clinical and Translational Neurology

|April 16, 2025

Summary

Functional measures like the North Star Assessment for Limb Girdle-Type Dystrophies (NSAD) are valid and reliable for assessing limb girdle muscular dystrophy (LGMD) R1, aiding clinical trial readiness.

Keywords:

limb girdle muscular dystrophy natural history outcome measures

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Area of Science:

Neurology
Clinical Trials
Biostatistics

Background:

Limb girdle muscular dystrophy (LGMD) presents a challenge for clinical trial readiness due to the need for precise functional measures.
Quantifying functional impairment is crucial for tracking disease progression and evaluating therapeutic interventions in LGMD.

Purpose of the Study:

To identify valid and reliable functional measures for individuals with LGMD R1.
To establish clinical trial readiness by assessing the utility of various clinical outcome assessments (COAs) and patient-reported outcome measures (PROMs).

Main Methods:

The Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP-LGMD) Consortium enrolled 42 subjects with LGMDR1 in a 12-month natural history study.
Subjects completed a battery of assessments including the North Star Assessment for Limb Girdle-Type Dystrophies (NSAD), 10-m walk/run, Performance of the Upper Limb (PUL), and PROMs.

Main Results:

Baseline analysis revealed significant correlations between COAs and PROMs.
Assessment performance varied significantly based on ambulatory status and genetic variant classification.
The NSAD demonstrated validity and reliability in this cohort.

Conclusions:

The NSAD and other assessed measures are valid and reliable for quantifying disease impairment in LGMDR1.
These findings support the use of NSAD and other selected COAs in future clinical trials for LGMDR1.
This study contributes to establishing robust endpoints for therapeutic development in LGMD.