Mitochondrial Video Assessment Source Material Study

The EMMES Corporation

Status: Completed

Conditions: PolG, Primary Mitochondrial Myopathy

Study type: Observational

Funder types: Industry; Other

Identifiers

NCT06180421

CAS-CAS009

Details and patient eligibility

About

Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies.

Full description

This observational research is being conducted to facilitate the development of 2 related, disease-specific outcome measures assessing ease of movement in PMM and PolG clinical trials. The Mitochondrial Video Assessment (MVA) utilizes remote video capture to assess subtle shifts in compensatory movement patterns and measure change in function over time, and the Current State Questionnaire asks participants about external factors in their daily lives which may influence fluctuations in their symptoms. As part of the questionnaire, participants are asked to rate their own perception of their functional ability using a Patient Global Impression of Severity (PGI-S) scale.

Enrollment: 28 patients

Sex: All

Ages: 16+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 16 years old and above
• Confirmed diagnosis of PMM or PolG
• Ability to understand and speak English
• Ability and willing to consent
• Able and willing to participate and perform tasks while being recorded
• Designating a recording partner to assist with video captures is strongly advised, but not required

Exclusion criteria

• N/A

Trial design

28 participants in 2 patient groups

PolG

Description:

Genetically confirmed PoLG patients 16 years or older

PMM

Description:

Genetically confirmed Primary Mitochondrial Myopathy patients 16 years or older