Genzyme Osteopenia/Osteoporosis Study

NCT02785744 | Completed

• 1 other identifier: 15-00351
• Study Type: observational
• Target: 76
• Locations: 1 country
• Sites: 1

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.

Conditions

Gaucher Disease

Outcome Measures

Primary Outcomes (1)

• Population prevalence of Gaucher disease among patients with low bone mineral density

  2 Years

Study Arms (1)

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

Interventions

Gaucher disease DNA mutation analysis OTHER

Patients receiving DEXA Scan

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• NYU Langone Health: lead
• Genzyme, a Sanofi Company: collaborator

Study Sites (1)

New York University School of Medicine

New York, New York, 10016, United States

Location

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Heather Lau, MD

  New York University Medical School

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 25, 2016
• First Posted: May 30, 2016
• Study Start: April 1, 2016
• Primary Completion: September 1, 2019
• Study Completion: September 1, 2019
• Last Updated: March 23, 2021

Record last verified: 2021-03

Locations

US (1)