Omics Gaucher Study: Multiomic Approach

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

Detailed Description
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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.

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

Conditions
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Gaucher Disease

Intervention / Treatment
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* Other: Genetic testing and Omics analysis


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Gaucher Type 1<br>The participant was diagnosed with Gaucher type 1 disease Adults only | Other: Genetic testing and Omics analysis<br>* Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics<br>|
| Gaucher Type 3<br>The participant was diagnosed with Gaucher type 3 disease Adults only | Other: Genetic testing and Omics analysis<br>* Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics<br>|
| Healthy Volunteer<br>Healthy participants Adults only | Other: Genetic testing and Omics analysis<br>* Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 |