In-depth phenotyping for clinical stratification of Gaucher disease.

ABSTRACT:

Background

The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5-87 years with Gaucher disease in the United Kingdom-an ultra-rare genetic disorder. To inform clinical decision-making and improve pathophysiological understanding, we characterized the course of Gaucher disease and explored the influence of costly innovative medication and other interventions. Retrospective and prospective clinical, laboratory and radiological information including molecular analysis of the GBA1 gene and comprising > 2500 variables were collected systematically into a relational database with banking of collated biological samples in a central bioresource. Data for deep phenotyping and life-quality evaluation, including skeletal, visceral, haematological an

SUBMITTER: D'Amore S 

PROVIDER: S-EPMC8515714 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature