Limb-Girdle Video Assessment

The EMMES Corporation

Status: Terminated

Conditions: Limb-Girdle Muscular Dystrophy ; Subtypes 2A, 2B, and 2I

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT05528757

CAS-CAS008-01

Details and patient eligibility

About

The purpose of this study is to develop a new remote-based video assessment outcome measure for Limb-Girdle Muscular Dystrophy (LGMD) trials. The overall objectives for this study are: 1. Identify domains and tasks meaningful to participants with a Limb-Girdle Muscular Dystrophy (LGMD) for development of the LGVA, including considerations for subtype heterogeneity and functional subgroup branching; 2. Determine the feasibility and reliability of the LGVA with test-retest of the LGVA Video Capture Manual; 3. Assess and refine the LGVA Video Capture Manual to ensure standardization and incorporate feedback from participants; 4. Collect source material videos using the LGVA Video Capture Manual to support the development of scorecards for the LGVA.

Full description

The purpose of this study is to gain insight from people living with an LGMD and gather source material videos to develop and test Limb-Girdle Video Assessment (LGVA), a new outcome measure designed to assess changes in functional abilities of participants in LGMDs clinical trials. The LGVA is being designed as a remote video capture to assess nuanced changes in compensatory movement patterns over time. This study involves two stages. In the concept elicitation stage, the tasks for the LGVA Video Capture Manual will be finalized based on feedback from participants living with an LGMD 2A, 2B, or 2I in various stages of disease progression. After finalizing the LGVA Video Capture Manual, source material videos will be collected to evaluate the feasibility and appropriateness of the LGVA tasks, standardize capture procedures, and inform the development of scorecards for the LGVA.

Enrollment: 45 patients

Sex: All

Ages: 14+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

• Person with confirmed diagnosis of an LGMD 2A, 2B, or 2I
• ≥14 years of age at the timing of consent (if age 14 - 17, consent from the parent/ legal guardian is also needed)
• Able to read, speak, and understand English
• Residing in the USA
• Willing and able to complete an electronic survey, which includes questions about personal characteristics and medical history as well as review of tasks
• Willing and able to discuss their experiences as a person living with an LGMD in a group setting
• Willing and able to complete 2 rounds of video capture following instructions in the LGVA Video Capture Manual in a 30-day period
• Willing and able to complete an exit interview to discuss their experiences capturing and recording videos with the LGVA Video Capture Manual

Trial design

45 participants in 1 patient group

LGMDs Patients

Description:

Patients with a genetically confirmed diagnosis of a LGMD subtype 2A, 2B, or 2I