Authors' objectives:

To summarise the current research evidence on enzyme replacement therapy for people with Fabry's disease.

Authors' recommendations: - Clinical impact: There is a small known patient group of up to 200 symptomatic men that would be able to benefit from enzyme replacement therapy for Fabrys disease. The role of the therapy for asymptomatic and screen detected cases is yet to be determined. - Service impact: People with symptomatic diagnosed Fabrys disease are seen by specialists at 4 major centres in the UK. The introduction of specific therapy will affect the service provided, but may in the long term reduce the need for renal support and incidence of major cardiac events. - Patient issues: Although small, the patient group is knowledgeable about these new therapies and the role it may play in the long-term management of their disease. - Financial and overall NHS impact: The overall NHS impact could be large. The existence of a treatment could also lead to the identification of more people with the disease but currently asymptomatic, increasing the demand for enzyme replacement therapy and the cost impact.

Authors' methods: Overview

Project Status: Completed

Year Published: 2001

URL for published report: http://www.hsric.nihr.ac.uk/search

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: England, United Kingdom

Organisation Name: NIHR Horizon Scanning Centre

Contact Address: The NIHR Horizon Scanning Centre, Department of Public Health, Epidemiology, and Biostatistics, School of Health and Population Sciences, University of Birmingham, 90 Vincent Drive, Edgbaston, Birmingham, B15 2SP. United Kingdom. Tel: +44 121 414 7831, Fax: +44 121 2269

Contact Name: c.packer@bham.ac.uk

Contact Email: c.packer@bham.ac.uk

Copyright: National Horizon Scanning Centre