Gaucher DiseaseNCT02785744
Genzyme Osteopenia/Osteoporosis Study
An observational study of Gaucher Disease, run by NYU Langone Health at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Gaucher Disease
- What is being tested?
- Gaucher disease DNA mutation analysis
- How many people
- 76 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Apr 2016to 1 Sep 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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
Show all 10Show fewer
- 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 locations and contacts
1 site in 1 country.
United States1 site
New York University School of Medicine
New York, New York, 10016
About this study
Official title: 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.
Read the 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
- Being tested
- Gaucher disease DNA mutation analysis
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Gaucher disease DNA mutation analysisOther
| Study group | Role | What they receive |
|---|---|---|
| Patients receiving DEXA Scan | Gaucher patients referred for dual energy X-ray absorptiometry (DEXA scan), who were found to have T-score <-1.0. Receives: Other: Gaucher disease DNA mutation analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Population prevalence of Gaucher disease among patients with low bone mineral density
Measured: 2 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 May 2016 (estimated)
- Study start1 Apr 2016
- Primary completion1 Sep 2019
- Study completion1 Sep 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- More trials run by NYU Langone HealthThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 76 participants (actual)
Sponsor and investigators
- Lead sponsor
- NYU Langone Health
- Sponsor type
- University, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Responsible party
- Sponsor
- Investigators
- Heather Lau, MD, Principal investigator, New York University Medical School
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02785744
- Sponsor's protocol ID
- 15-00351
- Status last verified
- Mar 2021
- First submitted
- 25 May 2016
- Last updated
- 23 Mar 2021
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence of Gaucher Among Patients With Osteopenia/Osteoporosis
- ClinicalTrials.gov ID
- NCT02785744
- Acronym / sponsor ID
- 15-00351
- Conditions
- Gaucher Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 76 participants (actual)
- Lead sponsor
- NYU Langone HealthUniversity, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Study start
- 1 Apr 2016 (actual)
- Primary completion
- 1 Sep 2019 (actual)
- Study completion
- 1 Sep 2019 (actual)
- First posted
- 30 May 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients receiving DEXA Scan | – | Other: Gaucher disease DNA mutation analysisGaucher patients referred for dual energy X-ray absorptiometry (DEXA scan), who were found to have T-score <-1.0. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (10 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Gaucher disease DNA mutation analysis | Other | Patients receiving DEXA Scan |
Primary outcome
Population prevalence of Gaucher disease among patients with low bone mineral density
Time frame: 2 Years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Mar 2021.
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Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Heather Lau, MD principal investigator
New York University Medical School
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, run by NYU Langone Health at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Mar 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Population prevalence of Gaucher disease among patients with low bone mineral density (time frame: 2 Years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Mar 2021; AzTrials last refreshed its copy on 28 Oct 2026.