Abstract Details

Title The Myotonic Dystrophy Type 2 Health Index (MD2HI): A Multifactorial, Disease-specific, Patient-reported Outcome Measure for Use in Therapeutic Trials

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 11-003

Background There is a need for reliable, sensitive, and disease-specific PROs that are capable of detecting clinically relevant changes in DM2 health over time. The U.S. Food and Drug Administration (FDA) has encouraged the use of patient-reported outcome measures as an effective mechanism to support drug-labeling claims. This research describes the development and validation of a novel, multifactorial PRO, known as the MD2HI.

Objective To develop and validate the Myotonic Dystrophy Type 2 Health Index (MD2HI), a disease-specific, patient-reported outcome (PRO) measure for use in myotonic dystrophy type 2 (DM2) therapeutic trials and clinical monitoring.

Design/Methods We conducted semi-structured qualitative interviews and a national cross-sectional study in individuals with DM2 to determine the most prevalent and impactful symptoms. We selected questions for the MD2HI based on their high relevance to individuals with DM2 and their potential responsiveness to therapeutic intervention. We then conducted beta testing of the MD2HI with individuals with DM2 to determine the instrument’s clarity, ease of use, and relevance to the DM2 population. Subsequently, we performed test-retest reliability, known groups validity, and factor analysis to further optimize and validate the final version of the MD2HI.

Results Fifteen individuals with DM2 participated in qualitative interviews and 74 participants completed the cross-sectional study. We conducted beta testing with 20 participants, followed by test-retest evaluation of the instrument with 24 individuals with DM2. These results demonstrated that the MD2HI is comprehensive, highly relevant, and reliable. The MD2HI contains 17 subscales that measure the multifactorial disease burden experienced by individuals with DM2.

Conclusions The development and validation of the MD2HI provides clinicians and researchers with a highly sensitive and responsive instrument that has the ability to measure clinically relevant changes in how a patient feels and functions over time or in response to therapeutic intervention.

Authors/Disclosures
Charlotte Engebrecht (University of Rochester Center for Health + Technology) PRESENTER	No disclosure on file
Spencer Rosero (University of Rochester, Center for Health and Technology)	No disclosure on file
Jennifer Weinstein	No disclosure on file
Jamison Seabury (University of Rochester)	No disclosure on file
Anika Varma (Center for Health + Technology, University of Rochester)	No disclosure on file
Shaweta Khosa, MD	Dr. Khosa has nothing to disclose.
Christina Shupe (Center for Health and Technology, University of Rochester)	No disclosure on file
Charlotte Irwin	No disclosure on file
Alicia Brocht (University of Rochester, Center for Health and Technology (CHeT))	No disclosure on file
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.