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Biomarkers Related to Bone in Pediatric Gaucher Disease

NCT06116071 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2024-03-13

No results posted yet for this study

Summary

Aims of the observational study is to establish novel blood-based biomarkers for grading bone disease in pediatric patients with Gaucher disease (GD). Patients with clinically confirmed GD: deficient GCase enzyme activity and corresponding genetic analysis will be eligible for enrollment. Levels of Lyso-Gb1, chitotriosidase, and CCL18 will be established for future bone biomarkers correlation analysis. Skeletal involvement will be assessed using standard clinical diagnostic tools, such as skeletal radiology and/or (DEXA). The comparator group will include age-matched healthy controls.

Clinically confirmed patients with GD will be stratified based on their disease severity (Gaucher disease type 1 and Gaucher disease type 3) and bone pathology findings. In addition, given that growth is a dynamic process during the pediatric age group, results will be ascertained with respect to phases of growth, i.e., early childhood, late childhood, adolescent, and young adult age groups. At the conclusion of the study, investigatirs expect to establish specific biomarkers of bone development and pathology in pediatric GD patients.

Conditions

  • Gaucher Disease
  • Bone Diseases

Sponsors & Collaborators

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

    lead OTHER

Principal Investigators

  • Ozlem Goker-Alpan, MD · Lysosomal and Rare Disorders Research and Treatment Center

Eligibility

Min Age
5 Years
Max Age
21 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-11-25
Primary Completion
2025-10-25
Completion
2025-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06116071 on ClinicalTrials.gov