Diagnostic Odyssey Survey 2

NCT03678740 | Completed

• 1 other identifier: NAMDC 7419
• Study Type: observational
• Target: 336
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Mitochondrial Diseases

Outcome Measures

Primary Outcomes (1)

• 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

Interventions

Odyssey 2 Survey OTHER

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.

Eligibility Criteria

• Age: Up to 99 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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
• 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

You may not qualify if:

• 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.
• 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).
• Individuals who are unable to provide consent
• Individuals who are unable to complete the survey

Sponsors & Collaborators

• University of South Florida: lead
• Columbia University: collaborator
• United Mitochondrial Disease Foundation: collaborator
• George Washington University: collaborator
• Massachusetts General Hospital: collaborator

Study Sites (1)

University of South Florida

Tampa, Florida, 33612, United States

Location

MeSH Terms

Conditions

Mitochondrial Diseases

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• John Thompson, PhD

  Columbia University

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 18, 2018
• First Posted: September 20, 2018
• Study Start: September 27, 2018
• Primary Completion: August 2, 2019
• Study Completion: August 2, 2019
• Last Updated: October 16, 2019

Record last verified: 2019-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)