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

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. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT04055831
Recruitment Status : Unknown
Verified August 2019 by Lysosomal and Rare Disorders Research and Treatment Center, Inc..
Recruitment status was:  Recruiting
First Posted : August 14, 2019
Last Update Posted : August 15, 2019
Information provided by (Responsible Party):
Lysosomal and Rare Disorders Research and Treatment Center, Inc.

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
Gaucher Disease Type 1

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


  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.

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Study Type : Observational
Estimated 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
Estimated Primary Completion Date : April 15, 2020
Estimated Study Completion Date : May 15, 2020

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)

Primary Outcome Measures :
  1. Measure biomarkers level in molar/l/h [ Time Frame: 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 [ Time Frame: 18 months ]
    DMP-1, RANK, OSCAR, cathepsin K, OPG

Biospecimen Retention:   Samples Without DNA
plasma, PBMC, and urine

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years to 90 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Clinically confirmed GD1 patients will be stratified based on their disease severity and bone density findings.

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:

  • a) Have evidence of hepatitis B, hepatitis C infection or any other chronic infectious disease b) Be pregnant or breastfeeding

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 ClinicalTrials.gov identifier (NCT number): NCT04055831

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Contact: Jacqueline Fikry 571-732-4575 jfikry@ldrtc.org
Contact: Margarita Ivanova, PhD 5715296724 mivanova@ldrtc.org

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United States, Virginia
LDRTC Recruiting
Fairfax, Virginia, United States, 22030
Contact: Ozlem Goker-Alpan, MD    703-261-6220    ogokar-alpan@ldrtc.org   
Contact: Margarita M Ivanova, PhD    7032616220 ext 5022957709    mivanova@ldrtc.org   
Principal Investigator: Ozlem Goker-Alpan, MD         
Sub-Investigator: Margarita Ivanova, PhD         
Sponsors and Collaborators
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
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Principal Investigator: Ozlem Goker-Alpan, MD Lysosomal and Rare Disorders Research and Treatment Center
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Responsible Party: Lysosomal and Rare Disorders Research and Treatment Center, Inc.
ClinicalTrials.gov Identifier: NCT04055831    
Other Study ID Numbers: 19-LDRTC-01
First Posted: August 14, 2019    Key Record Dates
Last Update Posted: August 15, 2019
Last Verified: August 2019

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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
Additional relevant MeSH terms:
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Gaucher Disease
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
Metabolic Diseases
Lipid Metabolism Disorders