Genzyme Osteopenia/Osteoporosis Study

NYU Langone Health

Status: Completed

Conditions: Gaucher Disease

Treatments: Other: Gaucher disease DNA mutation analysis

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT02785744

15-00351

Details and patient eligibility

About

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.

Full 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).

Enrollment: 76 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

76 participants in 1 patient group

Patients receiving DEXA Scan

Description:

Gaucher patients referred for dual energy X-ray absorptiometry (DEXA scan), who were found to have T-score \<-1.0.

Treatment:

Other: Gaucher disease DNA mutation analysis