Omics Gaucher Study: Multiomic Approach (OmicsGaucher)

Omics Gaucher Study: Multiomic Approach To Describe The Gaucher Disease Treatment Dynamics In Comparison To Untreated Healthy Volunteers

The study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.

Study Overview

• Status: Active, not recruiting
• Conditions: Gaucher Disease
• Intervention / Treatment: Other: Genetic testing and Omics analysis

Detailed Description

Gaucher disease is one of the most common lysosomal storage disorders (LSD) and is an autosomal recessive inherited disorder, primed by mutation in the GBA1 gene which leads to a deficiency in β-glucocerebrosidase (GCase) activity and accumulation of its substrate glucosylceramide (GluCer)/-sphingosine (GluSph). The macrophages are the main cell type exhibiting a Gaucher disease phenotype. The large accumulation of GluCer and to a lesser extent that of GluSph lead to dysfunction in organs such as spleen, liver, bone marrow, and lungs.

However, a validated, reproducible, and broadly applicable tool to classify Gaucher Disease at any stage of the disease is still missing.

The development of new technologies, such as genomic analysis by next generation sequencing (NGS) and other "omics technologies," has advanced the molecular understanding and diagnosis of Rare Diseases

The current study will analyze the transcriptional and metabolomic profiles in blood, plasma and isolated monocytes from Gaucher patients and healthy controls with the aim to compare these profiles and to define how much a patient profile differs from a healthy one.

• Study Type: Observational
• Enrollment (Estimated): 25

Contacts and Locations

• Study Contact: Name: Filipa Curado, PhD; Phone Number: +49 381 80113 841; Email: clinical.studies@centogene.com

Study Locations

• Germany
  • Hamburg, Germany
    • UKE

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

Gaucher participants diagnosed with Type 1 and Type 3. Healthy volunteers.

Description

Inclusion Criteria:

Gaucher Type 1 participants:

• Informed consent
• The participant is older than 18 years old
• The participant was diagnosed with Gaucher Type 1 disease

Gaucher Type 3 participants:

• Informed consent
• The participant is older than 18 years old
• The participant was diagnosed with Gaucher type 3 disease

Healthy participants:

• Informed consent
• The participant is older than 18 years old
• Healthy participants

Exclusion Criteria:

Gaucher Type I participants:

• The participant had any other clinically significant disease
• The participant had a recent (within 14 days) acute infection and/or vaccination

Gaucher Type 3 participants:

• Diagnosis of a significant CNS disease or cardiovascular disease other than Gaucher type 3
• The participant had a recent (within 14 days) acute infection and/or vaccination

Healthy participants:

• The participant had a recent (within 14 days) acute infection and/or vaccination

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Gaucher Type 1; The participant was diagnosed with Gaucher type 1 disease; Adults only	Other: Genetic testing and Omics analysis; Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics
Gaucher Type 3; The participant was diagnosed with Gaucher type 3 disease; Adults only	Other: Genetic testing and Omics analysis; Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics
Healthy Volunteer; Healthy participants; Adults only	Other: Genetic testing and Omics analysis; Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
OMICS DATA	investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.	12 months

Collaborators and Investigators

• Sponsor: CENTOGENE GmbH Rostock
• Investigators: Principal Investigator: Peter Bauer, MD, CENTOGENE GmbH

Study record dates

Study Major Dates

• Study Start (Actual): October 6, 2022
• Primary Completion (Estimated): December 1, 2023
• Study Completion (Estimated): December 1, 2024

Study Registration Dates

• First Submitted: August 31, 2022
• First Submitted That Met QC Criteria: August 31, 2022
• First Posted (Actual): September 2, 2022

Study Record Updates

• Last Update Posted (Actual): September 7, 2023
• Last Update Submitted That Met QC Criteria: September 6, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Gaucher Disease
• Other Study ID Numbers: OG 01-2022

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No