Clinical trial NCT06180421: Mitochondrial Video Assessment Source Material Study
Official title: Development of the Mitochondrial Video Assessment (MVA) as an Outcome Measure for the Evaluation of Patients With Mitochondrial Myopathies
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: PolG, Primary Mitochondrial Myopathy
Keywords: PoIG
Primary Mitochondrial Myopathy
MELAS
CPEO
Lead sponsor: The Emmes Company, LLC
Sponsor class: INDUSTRY
Collaborators: name: United Mitochondrial Disease Foundation
First posted: 2023-12-22
Enrollment: 28
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Persons aged 16 and older living with a confirmed diagnosis of PMM or PoIG.

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

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: Source Material Videos
timeFrame: 2 weeks
Secondary outcomes:
measure: PGI-S
timeFrame: 2 weeks
Other outcomes:
Locations:
city: Kingston
country: United States
facility: Casimir
state: Massachusetts
Study officials:
References:
citation: Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016.
citation: Stumpf JD, Saneto RP, Copeland WC. Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol. 2013 Apr 1;5(4):a011395. doi: 10.1101/cshperspect.a011395.
citation: Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015 May;77(5):753-9. doi: 10.1002/ana.24362. Epub 2015 Mar 28.
citation: Goldstein A, Rahman S. Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders. J Inherit Metab Dis. 2021 Mar;44(2):343-357. doi: 10.1002/jimd.12320. Epub 2020 Oct 29.
citation: Pitceathly RDS, Keshavan N, Rahman J, Rahman S. Moving towards clinical trials for mitochondrial diseases. J Inherit Metab Dis. 2021 Jan;44(1):22-41. doi: 10.1002/jimd.12281. Epub 2020 Sep 2.
citation: Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol. 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0.
citation: Instrustry FGf. Patient-Focused Drug Development: Methods to Identify What is Important to Patients. 2022.
citation: Industry FGf. Methods to Identify What is Important to Patients and Select, Develop, and Modify Fit-for-Purpose Clinical outcomes Assessments. 2018.