Omics Gaucher Study: Multiomic Approach

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05526664

Acronym

OmicsGaucher

Enrollment

Registered

2022-09-02

Start date

2022-10-06

Completion date

2025-12-31

Last updated

2025-06-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Gaucher Disease

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.

Interventions

OTHERGenetic testing and Omics analysis

Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Yes

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

Design outcomes

Primary

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

Countries

Germany

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026