Gaucher Disease Clinical Trial
Official title:
Pilot Study to Assess Immune Biomarkers and Growth Factors Related to Bone Pathology in Pediatric Patients With Gaucher Disease
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.
Status | Recruiting |
Enrollment | 20 |
Est. completion date | December 31, 2025 |
Est. primary completion date | October 25, 2025 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 5 Years to 21 Years |
Eligibility | Inclusion Criteria: 1. The parent or legal guardian and the participant who is eligible to provide assent are able and willing to provide informed consent and assent when applicable. 2. The participant is 5-21 years of age at the initial visit. 3. The participant has a confirmed diagnosis of GD type 1 or type 3 (biochemically and/or genetically). 4. In the investigator's opinion, the subject is capable of understanding and complying with protocol requirements. 5. The subject or, when applicable, the subject's legally acceptable representative signs and dates a written, informed consent form and any required privacy authorization prior to the initiation of any study procedures. Exclusion Criteria: 1. Any subject who does not meet any of the following criteria will not qualify for the study. 2. Any current active chronic infection such as HIV, Hepatitis B or C. 3. Pregnancy or breastfeeding for females. |
Country | Name | City | State |
---|---|---|---|
United States | Lysosomal and Rare disorder research and treatment center | Fairfax | Virginia |
Lead Sponsor | Collaborator |
---|---|
Lysosomal and Rare Disorders Research and Treatment Center, Inc. |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Blood-based biomarkers that correlate with bone involvement in pediatric patients with GD. | DMP-1, Osteocalcin, DKK-1, BAP, RANKL, OPG, TRAP5b, CTX, SOST, SFRP1, PICP,PINP, CCL1, GM-CSF, Il-4, Il-5, Il-6, Il-10, TNFalpha concentrations units/ml | 24 months | |
Primary | Plasma Growth factors and bone development, including bone age, skeletal maturation and bone development abnormalities | IGF-1, IGFBP-3, TGFbeta, BMP6, BMP9, FGF2, FGF18, FGF21, FGF23 concentration in plasma units/ml | 24 months |
Status | Clinical Trial | Phase | |
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