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| Name | Class |
|---|---|
| United Mitochondrial Disease Foundation | UNKNOWN |
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Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| PolG | Genetically confirmed PoLG patients 16 years or older | ||
| PMM | Genetically confirmed Primary Mitochondrial Myopathy patients 16 years or older |
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| Measure | Description | Time Frame |
|---|---|---|
| Source Material Videos | Initiate feasibility testing and collect source material videos from patients with Primary Mitochondrial Myopathy (PMM, n=35) or a PolGamma (PolG) mutation (n=15) to facilitate development of the Mitochondrial Video Assessment (MVA). | 2 weeks |
| Measure | Description | Time Frame |
|---|---|---|
| PGI-S | Identify external factors which may influence participant performance on functional assessments and collect Patient Global Impression of Severity (PGI-S) at the time of each capture to facilitate the development of a patient-reported Current State Questionnaire to be deployed in conjunction with the MVA. | 2 weeks |
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Inclusion Criteria:
Exclusion Criteria:
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Persons aged 16 and older living with a confirmed diagnosis of PMM or PoIG.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Casimir | Kingston | Massachusetts | 02360 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 26735972 | Background | 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. | |
| 23545419 |
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| ID | Term |
|---|---|
| D017241 | MELAS Syndrome |
| D017246 | Ophthalmoplegia, Chronic Progressive External |
| ID | Term |
|---|---|
| D017237 | Mitochondrial Encephalomyopathies |
| D017240 | Mitochondrial Myopathies |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| 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. |
| 25652200 | Background | 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. |
| 33016339 | Background | 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. |
| 32618366 | Background | 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. |
| 30451971 | Background | 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. |
| Background | Instrustry FGf. Patient-Focused Drug Development: Methods to Identify What is Important to Patients. 2022. |
| Background | Industry FGf. Methods to Identify What is Important to Patients and Select, Develop, and Modify Fit-for-Purpose Clinical outcomes Assessments. 2018. |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D009468 | Neuromuscular Diseases |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D028361 | Mitochondrial Diseases |
| D009886 | Ophthalmoplegia |
| D015835 | Ocular Motility Disorders |
| D003389 | Cranial Nerve Diseases |
| D010243 | Paralysis |
| D009461 | Neurologic Manifestations |
| D005128 | Eye Diseases |
| D002908 | Chronic Disease |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D012816 | Signs and Symptoms |