Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease

NCT02416661 | Completed DMC

• 1 other identifier: LP 06-2018
• Study Type: observational
• Target: 299
• Locations: 7 countries
• Sites: 8

Brief Summary

International, multicenter, epidemiological study to demonstrate the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/SRT-newly started Gaucher type 1 patients and to correlate lyso-Gb1 concentration with the clinical improvement of ERT or SRT treated Gaucher type 1 and the clinical course of non-treated patients based on GD-DS3

Conditions

Lysosomal Storage Diseases; Gaucher Disease; Sphingolipidoses

Keywords

Gaucher Disease type 1; Lymphatic Diseases; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Lipidoses

Outcome Measures

Primary Outcomes (1)

• Demonstrating the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/SRT-newly started Gaucher type 1 patients

  lyso-Gb1 will be analzyed via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.

  48 month

Secondary Outcomes (1)

• Correlating lyso-Gb1 concentration with the clinical improvement of ERT or SRT treated Gaucher type 1 and the clinical course of non-treated patients based on GD-DS3.

  48 month

Study Arms (1)

Participants diagnosed with Gaucher disease

Participants with genetically confirmed diagnosis of Gaucher disease type 1 older than 6 months old

Eligibility Criteria

• Age: 6 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Male or female patients aged 6 months or older with genetically confirmed diagnosis of Gaucher disease type 1 without treatment prior to enrollment or no treatment for more than 24 months ago

You may qualify if:

• Male or female patients aged 6 months or older
• Patients with genetically confirmed diagnosis of Gaucher disease type 1
• No prior treatment with enzyme replacement therapy or substrate reduction therapy ro no traetment for more than 24 months
• Signed informed consent by parents/legal guardian and patient

You may not qualify if:

• Male or female patients being younger than 6 months
• Patients without genetically confirmed diagnosis of Gaucher disease type 1
• Gaucher disease 2 or 3
• Patient is currently undergoing enzyme replacement therapy or substrate reduction therapy
• Missing signed informed consent

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (8)

University Hospital Center Mother Teresa

Tirana, 10001, Albania

Location

Aristotle University of Thessaloniki, Ippokration General Hospital

Thessaloniki, 54642, Greece

Location

Centre for Human Genetics

Bangalore, 560100, India

Location

Shaare Zedek Medical Center

Jerusalem, 9103 102, Israel

Location

Children hospital

Rabat, 10100, Morocco

Location

Hopital d'Enfant

Rabat, 10100, Morocco

Location

The Children's Hospital and the Institute of Child Health

Lahore, Punjab Province, 54600, Pakistan

Location

Hospital Universitari de Bellvitge (planta 7.1)

Barcelona, 08907, Spain

Location

Related Publications (1)

• Elstein D, Mellgard B, Dinh Q, Lan L, Qiu Y, Cozma C, Eichler S, Bottcher T, Zimran A. Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naive and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials. Mol Genet Metab. 2017 Sep;122(1-2):113-120. doi: 10.1016/j.ymgme.2017.08.005. Epub 2017 Aug 24.

  PMID: 28851512 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

MeSH Terms

Conditions

Lysosomal Storage Diseases; Gaucher Disease; Sphingolipidoses; Lymphatic Diseases; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Lipidoses

Condition Hierarchy (Ancestors)

Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases

Study Officials

• Peter Bauer, M.D.

  CENTOGENE GmbH Rostock

  STUDY CHAIR

Study Design

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

Study Record Dates

• First Submitted: March 13, 2015
• First Posted: April 15, 2015
• Study Start: August 27, 2018
• Primary Completion: January 15, 2021
• Study Completion: January 15, 2021
• Last Updated: May 28, 2021

Record last verified: 2020-04

Locations

IN (1); AL (1); IL (1); GR (1); MO (2); PA (1); ES (1)