Quality of Life Assessments

Treating physicians will determine the actual frequency of necessary assessments according to a patient’s individualized need for medical care and routine follow-up, as well as to published or local guidelines, as appropriate. As a minimum, however, a recommended schedule of assessments has been developed based on input of physicians from the international medical community with expertise in the care of patients with Gaucher disease. The recommended schedule represents the core assessments that are currently thought to monitor Gaucher-related clinical manifestations and to stage disease progression across the life-long course of the disease. The assessments include hematologic, visceral, skeletal assessments, and quality of life (QOL) evaluations.

Minimum Recommendations(PDF)

Uniform data sets of clinical assessments are collected on data collection forms based on medical chart review. QOL data on physical and social functioning and well-being should come from the patients themselves, as they are the best source for such information.

Significant advances have been made in the development of validated, easy-to- administer, patient-based methods for measuring outcomes and enhancing therapeutic decision making. Information is lacking, however, on the impact of Gaucher disease on patient function and well-being since such information is rarely collected in clinical research or medical practice.

A QOL Assessments Manual for the U.S. English Version is provided for use in the U.S. and as an example for review in other countries.

Download QOL Assessments Manual (PDF)

This guide provides the necessary and appropriate instruments to prospectively collect such patient-centered information to help assess health status and progress over time.

For more information on performing QOL Assessments in other countries and whether the Health Status Survey (SF-36^®) (PDF) is available in your native language, please contact the Gaucher Registry.