CLINICAL AND PATHOLOGICAL MARKERS OF HETEROGENEITY IN FABRY DISEASE
Research type
Research Study
Full title
CLINICAL AND PATHOLOGICAL MARKERS OF HETEROGENEITY IN FABRY DISEASE
IRAS ID
216076
Contact name
Derralynn Hughes
Contact email
Sponsor organisation
Royal Free London NHS Foundation Trust
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Fabry disease is a rare genetic condition caused by a faulty gene. This gene is called GLA and is key for the production of an enzyme called α-Galactosidase A, which is necessary for the daily breakdown of fatty substances. When the GLA gene is defective the enzyme does not work efficiently and some specific fatty substances (Gb3) accumulate throughout the body.
The progressive Gb3 accumulation causes cell damage and cell damage leads to the development of symptoms. The types of symptoms and the speed at which these develop can vary significantly from one person to another. Some patients experience the “classical” presentation of the disease where symptoms start during childhood and can include pain crisis, skin rash, strokes, heart disease, fatigue, and kidney dysfunction. In the “non-classical” presentation symptoms start during adulthood and are limited to either the heart or the kidneys.
Fabry disease is passed through families. For instance, the type of alteration found in the GLA gene is commonly shared among immediate and extended family members. The type of alteration found in the GLA gene can differ from family to family. Up to date there have been found over 900 different alterations within the GLA gene that could cause Fabry disease.
In this research project we aim to understand why some patients develop all the symptoms of the disease whilst some only show affection of a single organ. To that end, we will collect biological samples and genetic data from patients and their relatives, and link it to their medical record so that we can better understand the biological factors that influence the disease severity and progression.REC name
West Midlands - South Birmingham Research Ethics Committee
REC reference
20/WM/0329
Date of REC Opinion
28 Jan 2021
REC opinion
Further Information Favourable Opinion