The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland.

ABSTRACT:

Background

Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease characterised by the progressive loss of motor function and severe decline in cognitive function. Limited information is available on the burden MLD places on patients and their families and the medical and social support these patients need. Three UK-based MLD patient organisations commissioned an online survey, and follow-up semi-structured interviews to describe and quantify these burdens across MLD subtypes, stage of disease (including end of life) and treatment status (untreated, gene therapy or hematopoietic stem cell transplant [HSCT]).

Results

A total of 24 patients were included in the study: thirteen late infantile (LI), six early juvenile (EJ), two late juvenile

SUBMITTER: Thomas S 

PROVIDER: S-EPMC10895743 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature