Mitochondrial Diseases Clinical Trial
Official title:
Diagnostic Odyssey Survey 2
Verified date | March 2019 |
Source | University of South Florida |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 336 |
Est. completion date | August 2, 2019 |
Est. primary completion date | August 2, 2019 |
Accepts healthy volunteers | |
Gender | All |
Age group | N/A to 99 Years |
Eligibility |
Inclusion Criteria: -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 Exclusion Criteria: -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 |
Country | Name | City | State |
---|---|---|---|
United States | University of South Florida | Tampa | Florida |
Lead Sponsor | Collaborator |
---|---|
University of South Florida | Columbia University, George Washington University, Massachusetts General Hospital, United Mitochondrial Disease Foundation |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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. | 4 months |
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