Omics Gaucher Study: Multiomic Approach

Gaucher Disease Clinical Trial

— OmicsGaucher  

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05526664
• Other study ID #: OG 01-2022
• Status: Active, not recruiting
• Start date: October 6, 2022
• Est. completion date: December 2024

Study information

• Verified date: September 2023
• Source: CENTOGENE GmbH Rostock
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 25
• Est. completion date: December 2024
• Est. primary completion date: December 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Gaucher Disease

Intervention

Other:
• Genetic testing and Omics analysis
Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics

Locations

Country	Name	City	State
Germany	UKE	Hamburg

Sponsors (1)

Lead Sponsor	Collaborator
CENTOGENE GmbH Rostock

Country where clinical trial is conducted

Germany, 

Outcome

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