Omics Gaucher Study: Multiomic Approach | NCT05526664

Studies
Omics Gaucher Study: Multiomic Approach

NCT05526664

Sponsor

CENTOGENE GmbH Rostock

Status

Active, not recruiting

Last Update Posted

Jun 26, 2025Actual

Enrollment

25Estimated

Phase

Not provided

Conditions

Gaucher Disease

Interventions

Genetic testing and Omics analysis

Countries

Germany

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2024

Overall Recruitment Status or Expanded Access Status

Active, not recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 6, 2022Actual

Primary Completion Date

Dec 2025Estimated

Completion Date

Dec 2025Estimated

First Submitted Date

Aug 31, 2022

First Submission Date that Met QC Criteria

Aug 31, 2022

First Posted Date

Sep 2, 2022Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 25, 2025

Last Update Posted Date

Jun 26, 2025Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

25Estimated

Arms/Interventions Module

Arm Groups

Label	Description	Intervention Names
Gaucher Type 1	The participant was diagnosed with Gaucher type 1 disease Adults only	Other: Genetic testing and Omics analysis
Gaucher Type 3	The participant was diagnosed with Gaucher type 3 disease Adults only	Other: Genetic testing and Omics analysis
Healthy Volunteer	Healthy participants Adults only	Other: Genetic testing and Omics analysis

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Genetic testing and Omics analysis	Other	Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics	Gaucher Type 1 Gaucher Type 3

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

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

Sampling Method

Probability Sample

Name	Affiliation	Role
Peter Bauer, MD	CENTOGENE GmbH	Principal Investigator

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D005776	Gaucher Disease

Ancestor Terms

ID	Term
D013106	Sphingolipidoses
D020140	Lysosomal Storage Diseases, Nervous System
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D005820	Genetic Testing

Ancestor Terms

ID	Term
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis
D008919	Investigative Techniques

Browse Leaves

Not provided

Browse Branches

Not provided