Abstract Details

Title Development and Validation of Two Patient-reported Outcome Measures: The Adrenoleukodystrophy-Health Index (ALD-HI) and Adrenomyeloneuropathy-Health Index (AMN-HI)

Topic General Neurology

Presentation(s) P11 - Poster Session 11 (5:30 PM-6:30 PM)

Poster/Presentation
Number 4-001

Objective

To develop and validate the Adrenoleukodystrophy-Health Index (ALD-HI) and Adrenomyeloneuropathy-Health Index (AMN-HI); two novel, patient-reported outcome (PRO) measures designed to measure clinically relevant changes during therapeutic trials for individuals with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN).

Background ALD and AMN are X-linked, neurodegenerative disorders that impact the physical, emotional, social, and disease-specific domains in the patients. The ALD-HI and AMN-HI were developed and validated using large-scale patient-reported data and FDA published guidelines to quantify meaningful changes in disease burden in response to therapeutic intervention in domains of health deemed significant to individuals with ALD and AMN.

Design/Methods

Semi-structured, qualitative interviews were followed by an international cross-sectional study in adults diagnosed with ALD and/or AMN to identify the most prevalent and impactful symptoms. Following cross-sectional analysis revealing notable differences in symptoms between general ALD and the AMN subtype and expert review, we developed the first versions of ALD-HI and AMN-HI. Beta testing, test-retest reliability evaluations, and factor analysis were conducted to further optimize clarity, usability, meaningfulness, and responsiveness of the ALD-HI and AMN-HI.

Results

Seventeen individuals with ALD and/or AMN participated in initial qualitative interviews and 109 participants completed the cross-sectional survey. Beta interviews with 31 individuals with ALD and AMN indicated that ALD-HI and AMN-HI were clear, relevant, and easy to use. Test-retest evaluations with 41 participants demonstrated high reliability of the ALD-HI and AMN-HI (ICC = 0.95 and 0.97). The final ALD-HI and AMN-HI yielded high internal consistency scores (Cronbach’s α = 0.98). The ALD-HI contains 20 symptomatic themes and takes an average of 7 minutes to complete. The AMN-HI contains 15 symptomatic themes and takes an average of 9 minutes to complete.

Conclusions

The ALD-HI and AMN-HI are sensitive, reliable, disease-specific PROs which comprehensively measure patient-reported disease burden for use in clinical monitoring and drug-labeling claims in ALD and AMN.

Authors/Disclosures
Jennifer Weinstein PRESENTER	Jennifer Weinstein has nothing to disclose.
Anika Varma (Center for Health + Technology, University of Rochester)	Anika Varma has nothing to disclose.
Shaweta Khosa	Ms. Khosa has nothing to disclose.
Jamison Seabury (University of Rochester)	Jamison Seabury has nothing to disclose.
Spencer Rosero (University of Rochester, Center for Health and Technology)	Spencer Rosero has nothing to disclose.
Charlotte Engebrecht (University of Rochester Center for Health + Technology)	Ms. Engebrecht has nothing to disclose.
Nuran Dilek (University of Rochester)	Nuran Dilek has nothing to disclose.
John Heatwole (39465)	An immediate family member of John Heatwole has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for legal med. An immediate family member of John Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for neurocrine. An immediate family member of John Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for novartis. An immediate family member of John Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for swan bio. An immediate family member of John Heatwole has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for recursion. An immediate family member of John Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for sanofi. An immediate family member of John Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for lupin. An immediate family member of John Heatwole has received personal compensation in the range of $0-$499 for serving as a Consultant for vertex. The institution of an immediate family member of John Heatwole has received research support from dod. The institution of an immediate family member of John Heatwole has received research support from novartis. The institution of an immediate family member of John Heatwole has received research support from mjff. The institution of an immediate family member of John Heatwole has received research support from fara. The institution of an immediate family member of John Heatwole has received research support from nih. The institution of an immediate family member of John Heatwole has received research support from unviversity of miami. The institution of an immediate family member of John Heatwole has received research support from mda. An immediate family member of John Heatwole has received intellectual property interests from a discovery or technology relating to health care.
Charlotte Irwin	Ms. Irwin has nothing to disclose.
Christina Shupe (Center for Health and Technology, University of Rochester)	Ms. Shupe has nothing to disclose.
Kaitlin Chung	Kaitlin Chung has nothing to disclose.
Eileen Sawyer, PhD (SwanBio Therapeutics Ltd.)	Eileen Sawyer has received personal compensation for serving as an employee of uniQure Inc. Eileen Sawyer has received stock or an ownership interest from uniQure Inc.
Asif M. Paker, MD, MPH	Dr. Paker has received personal compensation for serving as an employee of SwanBio Therapeutics.
Gregory Brooks (Autobahn therapeutics)	No disclosure on file
Chan Beals	Chan Beals has received personal compensation for serving as an employee of Autobahn Therapeutics.
Rohan Gandhi	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.

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