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Genzyme Osteopenia/Osteoporosis Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02785744
Recruitment Status : Recruiting
First Posted : May 30, 2016
Last Update Posted : January 29, 2019
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
NYU Langone Health

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.

Condition or disease Intervention/treatment
Gaucher Disease 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).

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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Other
Time Perspective: Cross-Sectional
Official Title: Prevalence of Gaucher Among Patients With Osteopenia/Osteoporosis
Study Start Date : April 2016
Estimated Primary Completion Date : September 2019
Estimated Study Completion Date : September 2019

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

Primary Outcome Measures :
  1. Population prevalence of Gaucher disease among patients with low bone mineral density [ Time Frame: 2 Years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02785744

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Contact: Zahra Bakhtiar 212-263-6628
Contact: Michele Ford

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United States, New York
New York University School of Medicine Recruiting
New York, New York, United States, 10016
Contact: Zahra Bakhtiar    212-263-6628   
Contact: Michele Ford   
Principal Investigator: Heather Lau, MD         
Sponsors and Collaborators
NYU Langone Health
Genzyme, a Sanofi Company
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Principal Investigator: Heather Lau, MD New York University Medical School

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Responsible Party: NYU Langone Health Identifier: NCT02785744     History of Changes
Other Study ID Numbers: 15-00351
First Posted: May 30, 2016    Key Record Dates
Last Update Posted: January 29, 2019
Last Verified: January 2019

Additional relevant MeSH terms:
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Bone Diseases, Metabolic
Gaucher Disease
Bone Diseases
Musculoskeletal Diseases
Metabolic Diseases
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
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lipid Metabolism Disorders