Abstract Details

Title Patient Experiences in early Huntington’s Disease - Qualitative Research to Inform Development of a Patient-Reported Instrument of Everyday Functioning

Topic Movement Disorders

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

Poster/Presentation
Number 5-003

Background Patients in early stages of Huntington’s Disease (HD) experience changes in cognition that result in difficulties performing everyday activities. The Hi-DEF is a PRO instrument under development, intended to capture functioning among pre- and early-manifest HD patients.

Objective To describe findings from concept elicitation (CE) and cognitive debriefing (CD) interviews and inform the development of a novel patient-reported outcome (PRO) instrument, “Huntington’s Disease Everyday Functioning (Hi-DEF).”

Design/Methods Eligible patients with HD were gene positive (CAG repeats ≥36), 25-65 years old, with Total Functional Capacity 8-13 and near-normal daily functioning or investigator confirmed cognitive changes. Recruitment was facilitated by two HD patient advocacy organizations (HDSA and HDYO). CE interviews were conducted to identify cognitive symptoms and functional impacts. A draft PRO item set was developed, and CD was conducted with additional patients to assess content validity, relevance, clarity, interpretation, and acceptability of the PRO items. The study was approved by a central IRB.

Results Ten patient/care-partner dyads participated in CE and 15 patients completed CE and CD interviews. Participants reported cognitive difficulties, and particularly executive functioning, which impacted the ability to complete complex tasks at home, work, and/or in other everyday scenarios like driving. The resulting domains guided the development of the draft Hi-DEF that was then debriefed with additional patients. The final Hi-DEF consists of 46 items across four domains (daily-life, work, driving, and social) and measures constructs including adapting and flexibility; multitasking and selective attention; planning and problem solving; and processing information. A validation study is currently underway to assess the psychometric properties of the Hi-DEF.

Conclusions The Hi-DEF is a PRO instrument under development that assesses everyday functioning in early HD. Items reflect concepts that are important to patients’ day-to-day experiences, which may help to assess the cognitive impact of HD as an aspect of currently unmet treatment need.

Authors/Disclosures
PRESENTER	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Stefan Cano, MD (Modus Outcomes)	Stefan Cano, MD has received personal compensation in the range of $100,000-$499,999 for serving as an officer or member of the Board of Directors for Modus Outcomes. Stefan Cano, MD has received stock or an ownership interest from Modus Outcomes. Stefan Cano, MD has received intellectual property interests from a discovery or technology relating to health care.
Aaron Koenig	Aaron Koenig has received personal compensation for serving as an employee of Sage Therapeutics.