PolG, Primary Mitochondrial MyopathyNCT06180421
Mitochondrial Video Assessment Source Material Study
An observational study of PolG, Primary Mitochondrial Myopathy, run by The Emmes Company, LLC at 1 site in United States.
Trial summary
Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- PolG, Primary Mitochondrial Myopathy
- How many people
- 28 participants
- Where
- 1 siteUnited States
- Study dates
- 16 Jun 2023to 2 Feb 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Persons aged 16 and older living with a confirmed diagnosis of PMM or PoIG.
Who may be able to join
- 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
Who cannot join
- N/A
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Development of the Mitochondrial Video Assessment (MVA) as an Outcome Measure for the Evaluation of Patients With Mitochondrial Myopathies
Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies.
Read the 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.
- Conditions
- PolG, Primary Mitochondrial Myopathy
- Keywords
- PoIG, Primary Mitochondrial Myopathy, MELAS, CPEO
- Medical subject headings
- MELAS Syndrome, Ophthalmoplegia, Chronic Progressive External
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| PolG | Genetically confirmed PoLG patients 16 years or older | |
| PMM | Genetically confirmed Primary Mitochondrial Myopathy patients 16 years or older |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 2 weeks
Secondary outcomes (1)
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.
Measured: 2 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Dec 2023
- Study start16 Jun 2023
- Primary completion2 Feb 2024
- Study completion2 Feb 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)Papers the sponsor has linked to this study.
- Other trials for PolG, Primary Mitochondrial MyopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 28 participants (actual)
Sponsor and investigators
- Lead sponsor
- The Emmes Company, LLC
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- United Mitochondrial Disease Foundation
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06180421
- Sponsor's protocol ID
- CAS-CAS009
- Status last verified
- Nov 2024
- First submitted
- 12 Dec 2023
- Last updated
- 14 Nov 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 26735972Stumpf 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.
PubMed 23545419Gorman 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.
PubMed 25652200Goldstein 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.
PubMed 33016339Pitceathly 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.
PubMed 32618366Rahman 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.
PubMed 30451971Instrustry FGf. Patient-Focused Drug Development: Methods to Identify What is Important to Patients. 2022.
Industry FGf. Methods to Identify What is Important to Patients and Select, Develop, and Modify Fit-for-Purpose Clinical outcomes Assessments. 2018.
Study at a glance
From the registry record, last updated by the sponsor on 14 Nov 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of the Mitochondrial Video Assessment (MVA) as an Outcome Measure for the Evaluation of Patients With Mitochondrial Myopathies
- ClinicalTrials.gov ID
- NCT06180421
- Acronym / sponsor ID
- CAS-CAS009
- Conditions
- PolG, Primary Mitochondrial Myopathy
- Keywords
- PoIG, Primary Mitochondrial Myopathy, MELAS, CPEO
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 28 participants (actual)
- Lead sponsor
- The Emmes Company, LLCIndustry (pharma, biotech, devices)
- Collaborators
- United Mitochondrial Disease Foundation
- Study start
- 16 Jun 2023 (actual)
- Primary completion
- 2 Feb 2024 (actual)
- Study completion
- 2 Feb 2024 (actual)
- First posted
- 22 Dec 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| PolG | – | –Genetically confirmed PoLG patients 16 years or older |
| PMM | – | –Genetically confirmed Primary Mitochondrial Myopathy patients 16 years or older |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Persons aged 16 and older living with a confirmed diagnosis of PMM or PoIG.
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (1 listed)
- N/A
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Source Material Videos
Time frame: 2 weeks
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).
1 secondary outcome
PGI-S
Time frame: 2 weeks
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Nov 2024.
- Background: PubMed 26735972Rajakulendran 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.
- Background: PubMed 23545419Stumpf 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.
- Background: PubMed 25652200Gorman 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.
- Background: PubMed 33016339Goldstein 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.
- Background: PubMed 32618366Pitceathly 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.
- Background: PubMed 30451971Rahman 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.
- BackgroundInstrustry FGf. Patient-Focused Drug Development: Methods to Identify What is Important to Patients. 2022.
- BackgroundIndustry FGf. Methods to Identify What is Important to Patients and Select, Develop, and Modify Fit-for-Purpose Clinical outcomes Assessments. 2018.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of PolG, Primary Mitochondrial Myopathy, run by The Emmes Company, LLC at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 14 Nov 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Source Material Videos (time frame: 2 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06180421, which also lists 8 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Nov 2024.