Gaucher DiseaseOmicsGaucherNCT05526664
Omics Gaucher Study: Multiomic Approach
An observational study of Gaucher Disease, run by CENTOGENE GmbH Rostock at 1 site in Germany.
Trial summary
The study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Gaucher Disease
- What is being tested?
- Genetic testing and Omics analysis
- How many people
- 25 participants
- Where
- 1 siteGermany
- Study dates
- 6 Oct 2022to Dec 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Gaucher participants diagnosed with Type 1 and Type 3. Healthy volunteers.
Who may be able to join
- 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
Show all 12Show fewer
- 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
Who cannot join
- 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 locations and contacts
1 site in 1 country.
About this study
Official title: Omics Gaucher Study: Multiomic Approach To Describe The Gaucher Disease Treatment Dynamics In Comparison To Untreated Healthy Volunteers
The study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.
Read the detailed 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.
- Conditions
- Gaucher Disease
- Being tested
- Genetic testing and Omics analysis
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic testing and Omics analysisOther
Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics
| Study group | Role | What they receive |
|---|---|---|
| Gaucher Type 1 | * The participant was diagnosed with Gaucher type 1 disease
* Adults only Receives: Other: Genetic testing and Omics analysis | |
| Gaucher Type 3 | * The participant was diagnosed with Gaucher type 3 disease
* Adults only Receives: Other: Genetic testing and Omics analysis | |
| Healthy Volunteer | * Healthy participants
* Adults only Receives: Other: Genetic testing and Omics analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
OMICS DATA
investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Sep 2022
- Study start6 Oct 2022
- Primary completionDec 2025 (estimated)
- Study completionDec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, MD, Principal investigator, CENTOGENE GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05526664
- Sponsor's protocol ID
- OG 01-2022
- Acronym
- OmicsGaucher
- Status last verified
- Sep 2024
- First submitted
- 31 Aug 2022
- Last updated
- 26 Jun 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Omics Gaucher Study: Multiomic Approach To Describe The Gaucher Disease Treatment Dynamics In Comparison To Untreated Healthy Volunteers
- ClinicalTrials.gov ID
- NCT05526664
- Acronym / sponsor ID
- OmicsGaucher / OG 01-2022
- Conditions
- Gaucher Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 6 Oct 2022 (actual)
- Primary completion
- Dec 2025 (estimated)
- Study completion
- Dec 2025 (estimated)
- First posted
- 2 Sep 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.
Detailed 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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Gaucher Type 1 | – | Other: Genetic testing and Omics analysis* The participant was diagnosed with Gaucher type 1 disease * Adults only |
| Gaucher Type 3 | – | Other: Genetic testing and Omics analysis* The participant was diagnosed with Gaucher type 3 disease * Adults only |
| Healthy Volunteer | – | Other: Genetic testing and Omics analysis* Healthy participants * Adults only |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Gaucher participants diagnosed with Type 1 and Type 3. Healthy volunteers.
Key inclusion criteria (12 listed)
- Informed consent
- The participant is older than 18 years old
- The participant was diagnosed with Gaucher Type 1 disease
- Informed consent
- The participant is older than 18 years old
Key exclusion criteria (8 listed)
- The participant had any other clinically significant disease
- The participant had a recent (within 14 days) acute infection and/or vaccination
- 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
- The participant had a recent (within 14 days) acute infection and/or vaccination
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic testing and Omics analysisBlood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics | Other | Gaucher Type 1, Gaucher Type 3, Healthy Volunteer |
Primary outcome
OMICS DATA
Time frame: 12 months
investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Jun 2025.
- Individual participant dataSharing planned: No
Related trials for Gaucher Disease
Enrolling by invitationObservational study
Genetic Studies of Lysosomal Storage Disorders
Lysosomal Storage Disorders, Gaucher Disease
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Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
Gaucher Disease, Type 2
Not yet recruitingPhase 2/3
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
Niemann-Pick Disease Type C, GM2 Gangliosidosis
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Parkinson's Disease in Type 1 Gaucher Disease
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International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Peter Bauer, MD principal investigator
CENTOGENE GmbH
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, run by CENTOGENE GmbH Rostock at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 26 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
OMICS DATA (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Jun 2025; AzTrials last refreshed its copy on 27 Oct 2026.