Mitochondrial DiseasesNCT03678740
Diagnostic Odyssey Survey 2
An observational study of Mitochondrial Diseases, run by University of South Florida at 1 site in United States.
Trial summary
A previous NAMDC survey study (NAMDC 7414 - Diagnostic Odyssey Survey, referred to hereafter as Odyssey1), provided a benchmark account of the substantial challenges faced by patients in achieving a diagnosis of mitochondrial disease, and of the impact such a diagnosis has on them (Grier et al. Read more about this study
- Who is it for?
- Ages Up to 99 years
- Conditions the study is for
- Mitochondrial Diseases
- What is being tested?
- Odyssey 2 Survey
- How many people
- 336 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Sep 2018to 2 Aug 2019
- 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 Up to 99 years
- All sexes
- Child, Adult, Older adult
Study population: Individuals will be recruited from the RDCRN NAMDC Contact Registry or UMDF Mitochondrial Disease Community Registry (MDCR) who report that they have been informed by a doctor that they have a confirmed mitochondrial disorder.
Who may be able to join
- -Individuals who report receiving a diagnosis of mitochondrial disease from a doctor, who are enrolled in the Rare Diseases Clinical Research Network (RDCRN) NAMDC Contact Registry
- OR
- -Individuals who report receiving a diagnosis of mitochondrial disease from a doctor, who are enrolled in the United Mitochondrial Disease Foundation (UMDF) Mitochondrial Disease Community Registry (MDCR)
- AND
- -Individuals who are able to provide consent
- AND
- -Individuals who are able to complete the survey
Who cannot join
- -Individuals who do not report receiving a diagnosis of mitochondrial disease from a doctor, who are enrolled in the Rare Diseases Clinical Research Network (RDCRN) NAMDC Contact Registry.
- OR
- -Individuals who do not report receiving a diagnosis of mitochondrial disease from a doctor, who are enrolled in the United Mitochondrial Disease Foundation (UMDF) Mitochondrial Disease Community Registry (MDCR).
- OR
- -Individuals who are unable to provide consent
- OR
- -Individuals who are unable to complete the survey
Trial locations and contacts
1 site in 1 country.
About this study
A previous NAMDC survey study (NAMDC 7414 - Diagnostic Odyssey Survey, referred to hereafter as Odyssey1), provided a benchmark account of the substantial challenges faced by patients in achieving a diagnosis of mitochondrial disease, and of the impact such a diagnosis has on them (Grier et al. 2018).1 This study was conducted from October 2015 through January 2016. We propose a new survey study (Odyssey2) which will provide an update, additional data collection (duration of the diagnostic odyssey), and allow assessment of next-generation DNA sequencing techniques since Odyssey1 concluded.
Odyssey2 will retain the strengths (simplicity, brevity, confidentiality, and data quality assurance measures) which made Odyssey1 successful. While Odyssey2 adds some refinements based on experience learned from Odyssey1, the basic questions are changed as little as possible to maximize comparability, and the additions are limited. Odyssey1 consisted of between 16 and 23 questions, depending on skip patterns, and took an estimated 15 minutes to complete. Odyssey2 consists of between 23 and 33 questions, depending on skip patterns and we estimate that it will take approximately 20 minutes to complete. As in Odyssey1, only patients who report, directly or through a guardian, that they have been informed by a doctor that they have a confirmed mitochondrial disorder will be eligible for Odyssey2.
Read the detailed description
To gain an understanding of the "Diagnostic Odyssey" patients with mitochondrial disease undergo the Odyssey2 survey will address the following 7 questions. The first 6 are the same as in Odyssey1.
- How much time typically elapses between when patients initially notice symptoms of a mitochondrial disorder and when they receive the diagnosis of mitochondrial disease?
- How many physicians do patients typically see before they receive the diagnosis of mitochondrial disease?
- What testing do patients typically undergo?
- What other diagnoses, if any, do patients typically receive?
- How did receiving a mitochondrial disease diagnosis impact the patient's life?
- If the patient were to learn that their mitochondrial disease diagnosis was incorrect, what impact would that have?
- Have any of the above changed since Odyssey1 in the RDCRN results?
Upon collection, the survey data will be stored by the Rare Diseases Clinical Research Network (RDCRN) Data Management and Coordinating Center (DMCC) at the University of South Florida.
Upon conclusion of the study period, the data will be de-identified prior to being sent to Dr. Seamus Thompson at the NAMDC Data Coordinating Center (DCC). The data will be analyzed by a team which will include Drs. Thompson, Hirano, Karaa, and Yeske; and Ms. Shepard, the project statistician. All data collected will be sent to a Federal data repository to be stored indefinitely per the current RDCRN data sharing policy.
- Conditions
- Mitochondrial Diseases
- Being tested
- Odyssey 2 Survey
- Medical subject headings
- Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Odyssey 2 SurveyOther
Odyssey2 will retain the strengths (simplicity, brevity, confidentiality, and data quality assurance measures) which made Odyssey1 successful. While Odyssey2 adds some refinements based on experience learned from Odyssey1, the basic questions are changed as little as possible to maximize comparability, and the additions are limited. Odyssey1 consisted of between 16 and 23 questions, depending on skip patterns, and took an estimated 15 minutes to complete. Odyssey2 consists of between 23 and 33 questions, depending on skip patterns and we estimate that it will take approximately 20 minutes to complete.
What is being measured
The primary outcome is the main question the study is designed to answer.
Duration of the Diagnostic Odyssey
The primary outcome measure is to provide an update, perform additional data collection (duration of the diagnostic odyssey), and allow assessment of next-generation DNA sequencing techniques since Odyssey1 concluded.
Measured: 4 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Sep 2018
- Study start27 Sep 2018
- Primary completion2 Aug 2019
- Study completion2 Aug 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial DiseasesStudies 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
- Case only
- Time perspective
- Other
- Enrolment
- 336 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of South Florida
- Sponsor type
- University, hospital or other
- Collaborators
- Columbia University, United Mitochondrial Disease Foundation, George Washington University, Massachusetts General Hospital
- Responsible party
- Sponsor
- Investigators
- John Thompson, PhD, Study chair, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03678740
- Sponsor's protocol ID
- NAMDC 7419
- Status last verified
- Mar 2019
- First submitted
- 18 Sep 2018
- Last updated
- 16 Oct 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnostic Odyssey Survey 2
- ClinicalTrials.gov ID
- NCT03678740
- Acronym / sponsor ID
- NAMDC 7419
- Conditions
- Mitochondrial Diseases
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 336 participants (actual)
- Lead sponsor
- University of South FloridaUniversity, hospital or other
- Collaborators
- Columbia University, United Mitochondrial Disease Foundation, George Washington University, Massachusetts General Hospital
- Study start
- 27 Sep 2018 (actual)
- Primary completion
- 2 Aug 2019 (actual)
- Study completion
- 2 Aug 2019 (actual)
- First posted
- 20 Sep 2018 (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.
A previous NAMDC survey study (NAMDC 7414 - Diagnostic Odyssey Survey, referred to hereafter as Odyssey1), provided a benchmark account of the substantial challenges faced by patients in achieving a diagnosis of mitochondrial disease, and of the impact such a diagnosis has on them (Grier et al. 2018).1 This study was conducted from October 2015 through January 2016. We propose a new survey study (Odyssey2) which will provide an update, additional data collection (duration of the diagnostic odyssey), and allow assessment of next-generation DNA sequencing techniques since Odyssey1 concluded.
Odyssey2 will retain the strengths (simplicity, brevity, confidentiality, and data quality assurance measures) which made Odyssey1 successful. While Odyssey2 adds some refinements based on experience learned from Odyssey1, the basic questions are changed as little as possible to maximize comparability, and the additions are limited. Odyssey1 consisted of between 16 and 23 questions, depending on skip patterns, and took an estimated 15 minutes to complete. Odyssey2 consists of between 23 and 33 questions, depending on skip patterns and we estimate that it will take approximately 20 minutes to complete. As in Odyssey1, only patients who report, directly or through a guardian, that they have been informed by a doctor that they have a confirmed mitochondrial disorder will be eligible for Odyssey2.
Detailed description
To gain an understanding of the "Diagnostic Odyssey" patients with mitochondrial disease undergo the Odyssey2 survey will address the following 7 questions. The first 6 are the same as in Odyssey1.
- How much time typically elapses between when patients initially notice symptoms of a mitochondrial disorder and when they receive the diagnosis of mitochondrial disease?
- How many physicians do patients typically see before they receive the diagnosis of mitochondrial disease?
- What testing do patients typically undergo?
- What other diagnoses, if any, do patients typically receive?
- How did receiving a mitochondrial disease diagnosis impact the patient's life?
- If the patient were to learn that their mitochondrial disease diagnosis was incorrect, what impact would that have?
- Have any of the above changed since Odyssey1 in the RDCRN results?
Upon collection, the survey data will be stored by the Rare Diseases Clinical Research Network (RDCRN) Data Management and Coordinating Center (DMCC) at the University of South Florida.
Upon conclusion of the study period, the data will be de-identified prior to being sent to Dr. Seamus Thompson at the NAMDC Data Coordinating Center (DCC). The data will be analyzed by a team which will include Drs. Thompson, Hirano, Karaa, and Yeske; and Ms. Shepard, the project statistician. All data collected will be sent to a Federal data repository to be stored indefinitely per the current RDCRN data sharing policy.
Study design
- Observational model
- Case only
- Time perspective
- Other
Who may qualify
- Ages
- Up to 99 years
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals will be recruited from the RDCRN NAMDC Contact Registry or UMDF Mitochondrial Disease Community Registry (MDCR) who report that they have been informed by a doctor that they have a confirmed mitochondrial disorder.
Key inclusion criteria (7 listed)
- -Individuals who report receiving a diagnosis of mitochondrial disease from a doctor, who are enrolled in the Rare Diseases Clinical Research Network (RDCRN) NAMDC Contact Registry
- OR
- -Individuals who report receiving a diagnosis of mitochondrial disease from a doctor, who are enrolled in the United Mitochondrial Disease Foundation (UMDF) Mitochondrial Disease Community Registry (MDCR)
- AND
- -Individuals who are able to provide consent
Key exclusion criteria (7 listed)
- -Individuals who do not report receiving a diagnosis of mitochondrial disease from a doctor, who are enrolled in the Rare Diseases Clinical Research Network (RDCRN) NAMDC Contact Registry.
- OR
- -Individuals who do not report receiving a diagnosis of mitochondrial disease from a doctor, who are enrolled in the United Mitochondrial Disease Foundation (UMDF) Mitochondrial Disease Community Registry (MDCR).
- OR
- -Individuals who are unable to provide consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Odyssey 2 SurveyOdyssey2 will retain the strengths (simplicity, brevity, confidentiality, and data quality assurance measures) which made Odyssey1 successful. While Odyssey2 adds some refinements based on experience learned from Odyssey1, the basic questions are changed as little as possible to maximize comparability, and the additions are limited. Odyssey1 consisted of between 16 and 23 questions, depending on skip patterns, and took an estimated 15 minutes to complete. Odyssey2 consists of between 23 and 33 questions, depending on skip patterns and we estimate that it will take approximately 20 minutes to complete. | Other | – |
Primary outcome
Duration of the Diagnostic Odyssey
Time frame: 4 months
The primary outcome measure is to provide an update, perform additional data collection (duration of the diagnostic odyssey), and allow assessment of next-generation DNA sequencing techniques since Odyssey1 concluded.
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 16 Oct 2019.
- Individual participant dataSharing planned: No
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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.
John Thompson, PhD study chair
Columbia University
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 Mitochondrial Diseases, run by University of South Florida 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 7 inclusion and 7 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 16 Oct 2019. 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?
Duration of the Diagnostic Odyssey (time frame: 4 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 16 Oct 2019.