Patient Enrollment

New patients may be enrolled in the Gaucher Registry and receive Patient Identification (ID) numbers immediately by entering patient enrollment information in the Study Reporting Center (a web-based system). Once the site receives a confirmation of patient enrollment with a Patient ID number, data collection and submission can proceed using the electronic CRFs (eCRFs) in the Gaucher Registry’s Electronic Data Capture and Reporting (EDCR) system. Sites that do not utilize EDCR may contact their Gaucher Registry representative for more information about paper-based patient enrollment and data collection.

Please refer to the Data Management section of this website for more information on submitting data to the Gaucher Registry.

Confirmation of Enrollment
An electronic confirmation of enrollment will be sent to the site for each newly enrolled patient following receipt of the Patient Enrollment form. The confirmation will provide the patient’s Registry identification number.

Diagnostic Testing
Physicians are encouraged to establish a confirmed diagnosis of Gaucher disease for each patient. To establish the diagnosis of Gaucher disease, both a glucocerebrosidase enzyme assay and DNA analysis are recommended by the Gaucher Registry. A positive enzyme assay or a genotype of known DNA mutations of the glucocerebrosidase gene is diagnostic for Gaucher disease. In addition to disease confirmation, both tests are recommended to assist in the elucidation of the natural history of Gaucher disease and phenotype/genotype correlation, which may be of prognostic value. For example, N370S heterozygotes generally preclude neurologic involvement (although there is wide phenotypic variability among genotypes).