Biomarkers Related to Bone in Pediatric Gaucher Disease

NCT06116071 | Unknown

• 1 other identifier: 23-LDRTC-02
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief 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

Outcome Measures

Primary Outcomes (2)

• 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

• 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

Study Arms (4)

GD subjects with normal growth rate and no bone involvement

No drug interventions.

GD type 1 subjects with evidence of bone involvement

No drug interventions.

GD type 3 subjects

No drug interventions.

Non-GD age and gender-matched controls with normal growth rate and no known bone complications

No drug interventions.

Eligibility Criteria

• Age: 5 Years - 21 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Patients with clinically confirmed GD: deficient GCase enzyme activity and corresponding genetic analysis will be eligible for enrollment. GD patients with and without bone abnormalities and growth retardation. The study population will comprise patients with Gaucher disease from Lysosomal \& Rare Disorders Research \& Treatment Center and who were referred to Lysosomal \& Rare Disorders Research \& Treatment Center who are 21 years or younger.

You may qualify if:

• 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.
• The participant is 5-21 years of age at the initial visit.
• The participant has a confirmed diagnosis of GD type 1 or type 3 (biochemically and/or genetically).
• In the investigator's opinion, the subject is capable of understanding and complying with protocol requirements.
• 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.

You may not qualify if:

• Any subject who does not meet any of the following criteria will not qualify for the study.
• Any current active chronic infection such as HIV, Hepatitis B or C.
• Pregnancy or breastfeeding for females.

Sponsors & Collaborators

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

Study Sites (1)

Lysosomal and Rare disorder research and treatment center

Fairfax, Virginia, 22030, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood.

MeSH Terms

Conditions

Gaucher Disease; Bone Diseases

Condition Hierarchy (Ancestors)

Sphingolipidoses; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Musculoskeletal Diseases

Study Officials

• Ozlem Goker-Alpan, MD

  Lysosomal and Rare Disorders Research and Treatment Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Margarita Ivanova, PhD

CONTACT

5714592367; mivanova@ldrtc.org

Loren Noll, MS

CONTACT

5714592367; lnoll@ldrtc.org

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 30, 2023
• First Posted: November 3, 2023
• Study Start: November 25, 2023
• Primary Completion: October 25, 2025
• Study Completion: December 31, 2025
• Last Updated: March 13, 2024

Record last verified: 2023-10

Locations

US (1)