Abstract Details

Title Patient-Reported Symptoms of Importance for Individuals with Mitochondrial Disease

Topic General Neurology

Presentation(s) P12 - Poster Session 12 (11:45 AM-12:45 PM)

Poster/Presentation
Number 2-010

Objective To identify the patient-reported symptoms of greatest importance to individuals with mitochondrial disease.

Background There is a need to better understand which symptoms have the greatest impact on those who live with mitochondrial disease.

Design/Methods In this study, we conducted semi-structured, qualitative interviews with adults with mitochondrial disease to identify the symptoms with the greatest impact on their daily lives. These interviews were transcribed, coded, and analyzed using a qualitative framework technique to identify symptoms which potentially have an importance in the lives of patients with mitochondrial disease.

Results Semi-structured interviews were conducted with 24 individuals across eight different subtypes of mitochondrial disease. Participants from 14 US states were represented in the cohort. The average age of participants was 54.5 years old (range 32-75). Of these participants, 54% identified as female (n = 13), 12.5% as Hispanic (n = 2), and 25% as active or former members of the military (n = 6). Qualitative coding yielded 2,883 direct patient quotes representing 501 different symptoms. Participants most frequently mentioned issues related to fatigue (114 quotes), muscle weakness (98 quotes), others not understanding their disability (81 quotes), frustration (63 quotes), and energy depletion (62 quotes) as being relevant and important to their lives.

Conclusions Through the patient perspective, it is evident that the symptomatic burden of mitochondrial disease involves a variety of issues including those related to physical, emotional, social, and disease-specific health. A clear understanding of the symptoms of greatest importance to patients with mitochondrial disease will help to better inform future therapeutic development in this population.

Authors/Disclosures
Christina Shupe (Center for Health and Technology, University of Rochester) PRESENTER	Ms. Shupe has nothing to disclose.
Kaitlin Chung	Kaitlin Chung has nothing to disclose.
Jennifer Weinstein	Jennifer Weinstein has nothing to disclose.
Charlotte Irwin	Ms. Irwin has nothing to disclose.
Preshetha Kanagaiah (University of Rochester Center for Health and Technology)	Miss Kanagaiah has nothing to disclose.
Charlotte Engebrecht (University of Rochester Center for Health + Technology)	Ms. Engebrecht has nothing to disclose.
Judith Monickaraj, MS	Ms. Monickaraj has nothing to disclose.
Sachi Kalra	Miss Kalra has nothing to disclose.
Autumn Mains, RN, MSN	Mrs. Mains has nothing to disclose.
Glen A. Cook, Jr., MD, FAAN	Dr. Cook has stock in Aspire Biopharma. An immediate family member of Dr. Cook has stock in Aspire Biopharma.
Mark C. Haigney, MD	Dr. Haigney has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for ICON Clinical Research LLC. Dr. Haigney has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Annals of Noninvasive. Electrocardiology. Dr. Haigney has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for JOSEPH GREENWALD & LAAKE, P.A.. The institution of Dr. Haigney has received research support from Defense Health Administration.
Chad R. Heatwole, MD, FAAN (University of Rochester Medical Center)	Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Virginia Commonwealth University. Dr. Heatwole has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Legal Med. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Swan Bio. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Harmony. Dr. Heatwole has received personal compensation in the range of $0-$499 for serving as a Consultant for Iris. Dr. Heatwole has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Recursion. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity Biosciences. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lupin. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for New York Central Mutual. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Penn Prop and Gas. The institution of Dr. Heatwole has received research support from Department of Defense. The institution of Dr. Heatwole has received research support from Novartis. The institution of Dr. Heatwole has received research support from MJFF. The institution of Dr. Heatwole has received research support from FARA. The institution of Dr. Heatwole has received research support from NIH. The institution of Dr. Heatwole has received research support from University of Miami. The institution of Dr. Heatwole has received research support from MDA. Dr. Heatwole has received intellectual property interests from a discovery or technology relating to health care.

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