Genzyme Osteopenia/Osteoporosis Study

Gaucher disease is a potential secondary cause of low bone mineral density and it is
prevalent among patients with low BMD. This cross sectional design study will measure point
prevalence of Gaucher disease in patients with low bone mineral density (BMD).

Inclusion Criteria:

- Patients > or equal to18 years and able to provide written consent.

- Patients who have had a bone density test demonstrating T-score <-1.0 on a DEXA scan
within the past year or those who are prospectively referred for DEXA scan and who are
later identified by their physician to have a DEXA T-score < -1.0.

Exclusion Criteria:

- Subject unable to read and sign consent form.

- Terminally ill subjects or subjects with serious co-morbidities (malignancy), which
would limit the ability of the patient to participate in the study.

- Subjects with the following disorders or exposures

- Underlying skeletal dysplasia

- An endocrinologic/metabolic disease known to cause bone demineralization: including
parathyroid dysfunction, hyperthyroidism, Cushing syndrome, hypogonadism,
panhypopituitarism

- Cystic Fibrosis

- Exposure to medications that are known to cause low BMD including chemotherapy within
past 2 years, chronic corticosteroid or phenytoin use within past 2 years

- Radiation exposure within the past 5 years

- Vitamin D deficiency is not an exclusion criteria as this is highly prevalent in the
adult population under investigation as well as in patients with Gaucher disease. (9,
10)

- Subjects previously diagnosed with Gaucher Disease