Omics Gaucher Study: Multiomic Approach (OmicsGaucher)

CENTOGENE

Status: Active, not recruiting

Conditions: Gaucher Disease

Treatments: Other: Genetic testing and Omics analysis

Study type: Observational

Funder types: Industry

Identifiers

NCT05526664

OG 01-2022

Details and patient eligibility

About

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

Full 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.

Enrollment: 25 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

25 participants in 3 patient groups

Gaucher Type 1

Description:

* The participant was diagnosed with Gaucher type 1 disease * Adults only

Treatment:

Other: Genetic testing and Omics analysis

Gaucher Type 3

Description:

* The participant was diagnosed with Gaucher type 3 disease * Adults only

Treatment:

Other: Genetic testing and Omics analysis

Healthy Volunteer

Description:

* Healthy participants * Adults only

Treatment:

Other: Genetic testing and Omics analysis