Omics Gaucher Study: Multiomic Approach

NCT05526664 | Active Not Recruiting

• 1 other identifier: OG 01-2022
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Gaucher Disease

Outcome Measures

Primary Outcomes (1)

• OMICS DATA

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

  12 months

Study Arms (3)

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

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; Healthy Volunteer

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (1)

UKE

Hamburg, Germany

Location

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Conditions

Gaucher Disease

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Peter Bauer, MD

  CENTOGENE GmbH

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: August 31, 2022
• First Posted: September 2, 2022
• Study Start: October 6, 2022
• Primary Completion: December 1, 2025
• Study Completion: December 1, 2025
• Last Updated: June 26, 2025

Record last verified: 2024-09

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)