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Genzyme Osteopenia/Osteoporosis Study

CompletedN/A

Sponsor: NYU Langone Health

Conditions: Gaucher Disease

Interventions: Gaucher disease DNA mutation analysis

Countries: United States

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.

Eligibility overview

Sex: ALL

Age: 18 Years to —

Healthy volunteers: No

Study type: OBSERVATIONAL

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

Locations (1)

New York, New York, United States