The baseline sample will be stored. For patients with positive results, samples should continue to be submitted every three months until two consecutive negative results are obtained. Obtain contiguous transaxial 10 mm thick sections for sum of region of interest. The quantitative MRI and DEXA are recommended at baseline and every 12-24 months. The bone scan is recommended at baseline and prn if symptomatic.
Bone age is recommended at baseline with appropriate follow up if baseline is abnormal.
Optimally, obtain hips to below knees. As an alternative, obtain hips to distal femur. Ideally, QOL should be assessed every 6 months using a standard and valid instrument. Gaucher Registry sponsored by the Genzyme Corporation. I understand that the goal of the Gaucher Registry is to collect data on people with Gaucher disease in an effort to better understand the disease and its treatment.