With the development of potential new avenues of treatment for Limb-Girdle Muscular Dystrophies (LGMDs) comes clinical trials to test the efficacy of gene therapy, gene editing, and other possibly revolutionary treatments for LGMDs. As these potential treatments and subsequent trials move forward, a sensitive and reliable, inclusive, and patient-centered outcome measure is needed to determine the benefits of the investigational treatments. Current outcome measures used in clinical trials for LGMDs are often not disease-specific and make use of timed function tests and clinician-rated assessments of movement compensations. These outcome measures often restrict participation to those with a high enough level of physical functioning to complete the tests and show change. In addition, clinical trials are conducted through a local site that limits participants to a geographical area and can create a significant travel burden for those who wish to be involved.
The Limb-Girdle Video Assessment (LGVA) is a proposed outcome measure being developed by Casimir specifically for use in LGMDs clinical trials and supported and co-funded by The Jain Foundation and Coalition to Cure Calpain 3. We are developing the LGVA after the success and validation of the Duchenne Video Assessment (DVA), a home-based, patient-centered functional outcome measure for the Duchenne Muscular Dystrophy community. The goal of the LGVA study is to mimic the success of the DVA in evaluating a participant’s ease of movement in performing everyday (e.g., getting in/out of a chair, moving around your home, brushing your hair), video capturing the modifications used to perform these tasks, and being inclusive of individuals with an LGMD at various stages of disease progression. In addition, as an outcome measure designed for use in a home setting, the LGVA intends to increase comfort and reduce travel burdens for participants. This initial development study for the LGVA will involve individuals with an LGMD subtype of 2A, 2B, or 2I.
The aims of the for the LGVA study are:
- To work together with members from the LGMDs 2A, 2B, and 2I communities to determine appropriate, everyday tasks that can be captured at home using a personal smart phone or other Wi-Fi-enabled device for an innovative functional assessment.
- To determine the reliability and sensitivity of the potential tasks selected in assessing any subtle changes in ease of movement/the need for compensations in completing a task and overall functional ability.
- To collaborate with Key Opinion Leaders (KOLs) in the LGMDs community to analyze and determine the thresholds and scale used for assessing tasks and any potential functional ability changes.