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

NCT04055831 | Unknown

• 1 other identifier: 19-LDRTC-01
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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.

Conditions

Gaucher Disease Type 1

Keywords

Gaucher disease; Osteoporosis

Outcome Measures

Primary Outcomes (2)

• Measure biomarkers level in molar/l/h

  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

  18 months

• Measure biomarkers level: molar/mg/h

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

  18 months

Study Arms (4)

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)

Eligibility Criteria

• Age: 16 Years - 90 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Clinically confirmed GD1 patients will be stratified based on their disease severity and bone density findings.

You may qualify if:

• To be enrolled in this study the subject must meet the following criteria
• Subject is greater than 16 years old but not older than 90 years
• Signed Informed Consent/Assent
• Subject is able and willing to sign informed consent or assent
• 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

You may not qualify if:

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

Sponsors & Collaborators

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

Study Sites (1)

LDRTC

Fairfax, Virginia, 22030, United States

RECRUITING

Related Publications (1)

• Ivanova MM, Dao J, Kasaci N, Friedman A, Noll L, Goker-Alpan O. Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease. Front Endocrinol (Lausanne). 2022 Nov 24;13:1029130. doi: 10.3389/fendo.2022.1029130. eCollection 2022.

  PMID: 36506070 DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

plasma, PBMC, and urine

MeSH Terms

Conditions

Gaucher Disease; Osteoporosis

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; Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases

Study Officials

• Ozlem Goker-Alpan, MD

  Lysosomal and Rare Disorders Research and Treatment Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jacqueline Fikry

CONTACT

571-732-4575; jfikry@ldrtc.org

Margarita Ivanova, PhD

CONTACT

5715296724; mivanova@ldrtc.org

Study Design

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

Study Record Dates

• First Submitted: August 12, 2019
• First Posted: August 14, 2019
• Study Start: May 15, 2019
• Primary Completion: April 15, 2020
• Study Completion: May 15, 2020
• Last Updated: August 15, 2019

Record last verified: 2019-08

Locations

US (1)