Genzyme Osteopenia/Osteoporosis Study

NCT ID: NCT02785744

Last Updated: 2021-03-23

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 76 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-04-01
• Study Completion Date: 2019-09-01

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).

Conditions

Gaucher Disease

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Patients receiving DEXA Scan

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

Gaucher disease DNA mutation analysis

Intervention Type: OTHER

Interventions

Gaucher disease DNA mutation analysis

Intervention Type: OTHER

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
• Subjects previously diagnosed with Gaucher Disease

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role: collaborator

NYU Langone Health

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Heather Lau, MD

Role: PRINCIPAL_INVESTIGATOR

New York University Medical School

Locations

New York University School of Medicine

New York, New York, United States

Countries

United States

Other Identifiers

15-00351

Identifier Type: -

Identifier Source: org_study_id