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Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale

T Michelle Brown1, Susan Martin1, Sheri E Fehnel1

  • 11RTI Health Solutions, 200 Park Offices Drive, Research Triangle Park, NC 27709 USA.

Journal of Patient-Reported Outcomes
|May 15, 2018
PubMed
Abstract

Insights

A new caregiver-reported scale, the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities (IMPA) scale, was developed to measure daily living impairments in juvenile MLD patients. This tool aids in assessing physical functioning and potential therapeutic benefits.

Area of Science:

  • Rare Diseases
  • Neurology
  • Clinical Outcome Assessment Development

Background:

  • Metachromatic leukodystrophy (MLD) is a rare genetic disorder with varied onset forms.
  • Juvenile MLD significantly impacts patients' physical functioning and daily activities.
  • A validated caregiver-reported outcome measure is needed to assess functional impairments.

Purpose of the Study:

  • To develop a caregiver-reported clinical outcome assessment for juvenile MLD.
  • To measure impairments in physical functioning related to activities of daily living (ADLs).

Main Methods:

  • Literature review and proprietary research informed conceptual model development.
  • Concept elicitation interviews with caregivers of juvenile MLD patients.
  • Cognitive debriefing interviews to refine the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities (IMPA) scale.

Main Results:

  • Initial 17 concepts were refined to 15 core activities/items in the IMPA scale.
  • The scale addresses key ADLs such as bathing, dressing, eating, and mobility.
  • Items were selected based on their unique contribution to assessing physical functioning.

Conclusions:

  • The IMPA scale is developed following regulatory standards for outcome assessment.
  • It effectively captures changes in ADLs for individuals with juvenile MLD.
  • The IMPA scale can be utilized in future clinical trials to evaluate therapeutic interventions.
Keywords:
Arylsulfatase a deficiencyAutosomal recessive enzyme deficiencyGenetic diseasesLeukodystrophyMLDMetachromatic leukodystrophyPatient-reported outcome

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