Gaucher Disease
Conditions
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).
Interventions
OTHERGaucher disease DNA mutation analysis
Sponsors
Genzyme, a Sanofi Company
NYU Langone Health
Study design
Observational model
OTHER
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Population prevalence of Gaucher disease among patients with low bone mineral density | 2 Years |
Countries
United States
Outcome results
None listed