Disease progression of alpha-mannosidosis and impact on patients and carers - A UK natural history survey.

ABSTRACT:

Introduction

Alpha-mannosidosis is an ultra-rare lysosomal storage disorder resulting from the deficient activity of lysosomal alpha-mannosidase. Alpha-mannosidosis presents as a highly heterogenous condition with large variations in symptom severity and disease progression rates. Quantitative and qualitative data for alpha-mannosidosis patients and their caregivers provide important insights into their daily experiences.

Methods

A survey of nine alpha-mannosidosis patients was carried out in the UK between August 2017 and January 2018. Patient demographics, health-related quality of life (HRQoL), and qualitative data from patients and carers relating to clinical characteristics and impact of the disease and treatment were analysed.

Results

At the time of survey compl

SUBMITTER: Adam J 

PROVIDER: S-EPMC6557729 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature