The French 'observatoire' on Gaucher's disease.

Abstract

Registries of patients with rare diseases are important and represent valuable sources of information on epidemiology, natural history of the disease, treatment response and medical practices. The French 'observatoire' on Gaucher's disease has both an epidemiological and educational objective: It will describe a large population of adult patients with special attention to complications and quality of life assessment. All adult patients with a confirmed diagnosis of Gaucher's disease will be enrolled at the time of their regular visit to the investigational centre. Collection will be as comprehensive as possible, covering the classical parameters of Gaucher's disease with patients' complaints, clinical abnormalities, imaging and biological assessments and concomitant medications. Special attention will be devoted to investigating the nature, frequency and severity of associated complications with special emphasis on neurological and bone involvement. Quality of life will be assessed using the SF-36 questionnaire. Recruitment will last for 1 year from May 2005. These large database collected will enhance disease knowledge and ultimately lead to improved long-term management of Gaucher's disease patients.