Genzyme Osteopenia/Osteoporosis Study

Study Overview
=================
Brief Summary
-----------------
Gaucher disease is a most common genetic metabolic disease characterized by low platelet number, liver and spleen enlargement and various forms of bone diseases including low bone mineral density leading to brittle bones. Various treatment options are now available for this disease. The purpose of this research study is to determine the prevalence of Gaucher disease in patients with low bone mineral density as observed by DEXA scan, which is a form of X-Ray of the bone.

Detailed Description
-----------------
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).

Official Title
-----------------
Prevalence of Gaucher Among Patients With Osteopenia/Osteoporosis

Conditions
-----------------
Gaucher Disease

Intervention / Treatment
-----------------
* Other: Gaucher disease DNA mutation analysis


Participation Criteria
=================
Eligibility Criteria
-----------------
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

Ages Eligible for Study
-----------------
Minimum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients receiving DEXA Scan<br>Gaucher patients referred for dual energy X-ray absorptiometry (DEXA scan), who were found to have T-score <-1.0. | Other: Gaucher disease DNA mutation analysis<br> <br> |

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Population prevalence of Gaucher disease among patients with low bone mineral density |  | 2 Years |