Genzyme Osteopenia/Osteoporosis Study

Prevalence of Gaucher Among Patients With Osteopenia/Osteoporosis

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.

Study Overview

• Status: Completed
• Conditions: Gaucher Disease
• Intervention / Treatment: Other: Gaucher disease DNA mutation analysis

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).

• Study Type: Observational
• Enrollment (Actual): 76

Contacts and Locations

Study Locations

• United States
  • New York
    • New York, New York, United States, 10016
      • New York University School of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

The study will be conducted in a cross-sectional design measuring point prevalence of Gaucher disease in patients with low bone mineral density. Low BMD is defined as T-Score <-1.0. In addition, prevalence stratified by age, gender, and menopausal status will be determined.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients receiving DEXA Scan; 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

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: NYU Langone Health
• Collaborators: Genzyme, a Sanofi Company
• Investigators: Principal Investigator: Heather Lau, MD, New York University Medical School

Study record dates

Study Major Dates

• Study Start (ACTUAL): April 1, 2016
• Primary Completion (ACTUAL): September 1, 2019
• Study Completion (ACTUAL): September 1, 2019

Study Registration Dates

• First Submitted: May 25, 2016
• First Submitted That Met QC Criteria: May 27, 2016
• First Posted (ESTIMATE): May 30, 2016

Study Record Updates

• Last Update Posted (ACTUAL): March 23, 2021
• Last Update Submitted That Met QC Criteria: March 22, 2021
• Last Verified: March 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Bone Diseases; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Osteoporosis; Bone Diseases, Metabolic; Gaucher Disease
• Other Study ID Numbers: 15-00351