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Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease

Sponsor
Lysosomal and Rare Disorders Research and Treatment Center, Inc. (Other)
Overall Status
Unknown status
CT.gov ID
NCT04055831
Collaborator
(none)
40
Enrollment
1
Location
12
Anticipated Duration (Months)
3.3
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Bone-related problems represent the principal unmet medical need in Gaucher disease (GD). 75% of GD type 1 patients develop skeletal complications, including bone remodeling defects, osteopenia, osteoporosis, marrow infiltration, avascular necrosis, and osteolysis. However, the underlying cellular/molecular basis of bone involvement and related complications in GD are not fully known. Neither are there any bone-specific markers associated with individual bone pathology. Early diagnosis of bone disease is the key issue for planning individual therapy to prevent and reverse bone disease in GD.

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    This clinical observational study is designed to identify specific biomarkers for bone involvement in patients with GD1 with decreased bone density and/or bone structural abnormalities

    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.

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    40 participants
    Observational Model:
    Case-Control
    Time Perspective:
    Prospective
    Official Title:
    Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease
    Actual Study Start Date :
    May 15, 2019
    Anticipated Primary Completion Date :
    Apr 15, 2020
    Anticipated Study Completion Date :
    May 15, 2020

    Arms and Interventions

    Arm Intervention/Treatment
    GD1 subjects with no bone complications

    1. GD1 subjects with no bone complications (n=10)
    GD1 patients with mild bone complication

    2. GD1 subjects with mild bone complications
    GD1 with severe bone complications

    3. GD1 subjects with severe bone complications
    No bone disease

    Controls with no known bone disease (n=10)

    Outcome Measures

    Primary Outcome Measures

    1. Measure biomarkers level in molar/l/h [18 months]

      Bone homeostasis is dependent on the balance of deposition by osteoblasts DMP-1, OSCAR, Calcitonin, Lyso-GB1, chitotriosidase, CCL18, osteocalcin, BALP, cathepsin K , TRAP 5, RANKL, OPG, DDK-1, sclerostin, MCP1, IL-2, IL-6, IL-10, SRTH2 and TNF-α

    2. Measure biomarkers level: molar/mg/h [18 months]

      DMP-1, RANK, OSCAR, cathepsin K, OPG

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    16 Years to 90 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    Inclusion Criteria:
    • To be enrolled in this study the subject must meet the following 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:
      1. Have evidence of hepatitis B, hepatitis C infection or any other chronic infectious disease b) Be pregnant or breastfeeding

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 LDRTC Fairfax Virginia United States 22030

    Sponsors and Collaborators

    • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

    Investigators

    • Principal Investigator: Ozlem Goker-Alpan, MD, Lysosomal and Rare Disorders Research and Treatment Center

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Lysosomal and Rare Disorders Research and Treatment Center, Inc.
    ClinicalTrials.gov Identifier:
    NCT04055831
    Other Study ID Numbers:
    • 19-LDRTC-01
    First Posted:
    Aug 14, 2019
    Last Update Posted:
    Aug 15, 2019
    Last Verified:
    Aug 1, 2019
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by Lysosomal and Rare Disorders Research and Treatment Center, Inc.
    Gaucher disease
    Osteoporosis
    Additional relevant MeSH terms:
    Gaucher Disease

    Study Results

    No Results Posted as of Aug 15, 2019