An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy.

ABSTRACT:

Background

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsulfatase A gene. Until now, there has been little information on the burden of MLD on patients and their caregivers. This multinational study aims to quantify caregiver-related impacts of MLD across several key domains including symptoms, treatment burden, time investment, social and emotional well-being, and professional and financial impact.

Results

Data were collected through moderator-assisted web survey and telephone interviews. The survey was developed with extensive input from clinical experts and MLD patient advocacy groups. The EQ-5D-5L questionnaire was administered during follow-up interviews. The total sample consisted of parents of MLD patie

SUBMITTER: Sevin C 

PROVIDER: S-EPMC9438185 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature