SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease

NCT02605603 | Unknown

• 1 other identifier: 15-LDRTC-02
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

This project is expected to elucidate role of different therapeutic interventions: SRT in comparison to ERT in influencing immune aspects of GD pathology, as well as bone involvement.

Conditions

Gaucher Disease

Keywords

Gaucher Type 1, Gaucher Type 2, Gaucher Type 3

Outcome Measures

Primary Outcomes (1)

• Delineate T-, B- and NK cell fractions as well as dendritic cell and monocyte numbers and compare between patients undergoing ERT vs. SRT.

  We will utilize multicolour flow cytometry using cell surface markers to perform detailed analysis of various components of immune system. Activation of monocytes/macrophages per se would be measured using secreted cytokines like CCL18 and chitotriosidase from plasma.

  2 Years

Secondary Outcomes (1)

• Comparative effects on skeletal involvement in individual Gaucher patients correlates with their disease severity and bone involvement.

  2 Years

Other Outcomes (1)

• The effect of Enzyme Replacement Therapy vs. Substrate Replacement Therapy.

  2 years

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Gaucher disease, and are currently on Enzyme replacement therapy (ERT) or on Substrate reduction therapy (SRT).

You may qualify if:

• Confirmed diagnosis of Gaucher disease
• Subjects on SRT using Cerdelga ( must fulfil the pharmacogenomics criteria for Cerdelga)

You may not qualify if:

• Unconfirmed diagnosis of Gaucher disease
• Subject or guardian unable to provide consent
• Any chronic immunosuppressive state or therapy

Sponsors & Collaborators

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

Study Sites (1)

O&O Alpan, LLC

Fairfax, Virginia, 22030, United States

Location

Related Links

• company information

MeSH Terms

Conditions

Gaucher Disease

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

Study Officials

• Ozlem Goker-Alpan, MD

  Study Principle Investigator

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: September 9, 2015
• First Posted: November 16, 2015
• Study Start: May 1, 2015
• Primary Completion: February 1, 2020
• Study Completion: May 1, 2020
• Last Updated: August 13, 2019

Record last verified: 2019-08

Locations

US (1)