An observational study in Gaucher Disease, sponsored by CENTOGENE GmbH Rostock. Active, not recruiting at 1 site in Germany. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-06-26.
Sponsored by CENTOGENE GmbH Rostock · Observational
The study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.
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.
177 studies on the registry are indexed under Gaucher Disease; 41 are open to participants now.
This study's planned enrollment of 25 is below the median of 63 across 67 observational studies indexed under Gaucher Disease.
Browse Gaucher Disease studies →CENTOGENE GmbH Rostock is the lead sponsor of 57 studies on the registry; none are open to participants now.
Counted across the registry records on this site, refreshed daily.
Gaucher participants diagnosed with Type 1 and Type 3. Healthy volunteers.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Gaucher Type 1 participants:
Gaucher Type 3 participants:
Healthy participants:
Exclusion Criteria:
Gaucher Type I participants:
Gaucher Type 3 participants:
Healthy participants:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Clinically significant
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
* The participant was diagnosed with Gaucher type 1 disease * Adults only
Other: Genetic testing and Omics analysis
* The participant was diagnosed with Gaucher type 3 disease * Adults only
Other: Genetic testing and Omics analysis
* Healthy participants * Adults only
Other: Genetic testing and Omics analysis
Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics
OMICS DATA
investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.
Time frame: 12 months
Plan to share: No
No publications or documents are linked to this record.
Started Oct 2022 (actual). Primary completion is estimated for Dec 2025, 38 months after the start.
How these figures are worked out, and which studies are left out of them.
This study is active, not recruiting, as verified in Sep 2024. You cannot join it, but the record below documents what was studied.
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