Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease
NCT ID: NCT04055831
Last Updated: 2019-08-15
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
40 participants
OBSERVATIONAL
2019-05-15
2020-05-15
Brief Summary
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Detailed Description
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Aims:
1. Identify novel immune cell surface and biochemical markers in peripheral blood correlating with bone involvement in GD.
2. Assess the correlation between cytokine levels in peripheral blood and the severity of bone involvement in GD.
3. Assess the relationship between glycosphingolipids accumulation and macrophage activation with specific bone markers and GD severity.
Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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GD1 subjects with no bone complications
1\. GD1 subjects with no bone complications (n=10)
No interventions assigned to this group
GD1 patients with mild bone complication
2\. GD1 subjects with mild bone complications
No interventions assigned to this group
GD1 with severe bone complications
3\. GD1 subjects with severe bone complications
No interventions assigned to this group
No bone disease
Controls with no known bone disease (n=10)
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
1. Subject is greater than 16 years old but not older than 90 years
2. Signed Informed Consent/Assent
3. Subject is able and willing to sign informed consent or assent
4. If the subject has GD1, the must have a confirmed diagnosis of Gaucher disease by
* GCase enzyme activity
* DNA analysis demonstrating pathogenic variants in the GBA gene
Exclusion Criteria
16 Years
90 Years
ALL
Yes
Sponsors
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Lysosomal and Rare Disorders Research and Treatment Center, Inc.
OTHER
Responsible Party
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Principal Investigators
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Ozlem Goker-Alpan, MD
Role: PRINCIPAL_INVESTIGATOR
Lysosomal and Rare Disorders Research and Treatment Center
Locations
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LDRTC
Fairfax, Virginia, United States
Countries
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Central Contacts
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Facility Contacts
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References
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Ivanova MM, Dao J, Kasaci N, Friedman A, Noll L, Goker-Alpan O. Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease. Front Endocrinol (Lausanne). 2022 Nov 24;13:1029130. doi: 10.3389/fendo.2022.1029130. eCollection 2022.
Other Identifiers
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19-LDRTC-01
Identifier Type: -
Identifier Source: org_study_id
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