Fabry DiseaseNCT05046379
Studying Lipids as Potential Biomarkers in Patients With Fabry Disease
An observational study of Fabry Disease, run by Vastra Gotaland Region at 3 sites in Sweden.
Trial summary
Compare levels of lipids between well characterised enzymatically-genetically-phenotypically patients with Fabry disease and healthy controls (with no Fabry disease). Correlate levels of lipids in patients with Fabry disease to clinical outcomes/manifestations of the disease. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Lipidomics
- How many people
- 108 participants
- Where
- 3 sitesSweden
- Study dates
- 14 Oct 2021to 28 Apr 2024
- 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: Adult men and women with well characterized Fabry disease and adult men and women with no Fabry disease and liver disease with elevated transaminases and ongoing infection.
Who may be able to join
- Adult men and women
- Well characterized Fabry disease in terms of i. alpha-Gal A enzyme activity, ii. mutation in alpha-Gal A (GLA) gene, and iii. disease manifestations
- Followed at one of the 3 centers for patients with Fabry disease in Sweden (Karolinska in Stockholm, Sahlgrenska in Gothenburg, Akademiska in Uppsala)
- Signed informed consent prior to sample collection is mandatory for inclusion to the study.
- Adult men and women
- Followed/treated at the endocrinology or nephrology in- or out-patient clinic at Sahlgrenska University Hospital in Gothenburg
- Matched for age, sex, estimated Glomerular filtration rate (eGFR) with the cases with Fabry disease
Who cannot join
- Fabry disease
- Liver disease with elevated transaminases
- Ongoing infection
Trial locations and contacts
3 sites in 1 country.
Sweden3 sites
Sahlgrenska University Hospital
Gothenburg
Karolinska University Hospital
Stockholm
Akademiska University Hospital
Uppsala
About this study
Official title: Lipidomics for Identification of New Biomarkers for Fabry Disease
Compare levels of lipids between well characterised enzymatically-genetically-phenotypically patients with Fabry disease and healthy controls (with no Fabry disease).
Correlate levels of lipids in patients with Fabry disease to clinical outcomes/manifestations of the disease.
Read the detailed description
The hypothesis is that Sphingosine-1 Phosphate (S1P) or any other related sphingoid bases and/or other lipid class could be a marker of the severity of cardiovascular remodelling in Fabry disease.
The overall approach is, by minimising possible pre-analytical and analytical biases, to study by lipidomics in well characterised enzymatically, genetically and phenotypically patients with Fabry disease, if S1P or any other lipid (including other glycosphingolipids) is shown to be a biomarker for the diagnosis, monitoring of disease activity and prognosis (including cardiovascular outcomes).
- Conditions
- Fabry Disease
- Being tested
- Lipidomics
- Keywords
- Biomarkers, Fabry disease, Lipidomics
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
LipidomicsOther
Lipidomics is the large-scale study of lipids (fats and fat-like molecules) within biological systems. It involves identifying and quantifying the wide variety of lipids in cells, tissues, or organisms to understand their roles in metabolism, signaling, and disease. Lipidomics is a subfield of metabolomics and uses advanced analytical techniques, like mass spectrometry, to profile lipid molecules. It helps in studying how lipids contribute to cellular functions, disease development, and responses to therapies.
| Study group | Role | What they receive |
|---|---|---|
| Patients with Fabry disease | Adult men and women with well characterized Fabry disease Receives: Other: Lipidomics | |
| Healthy controls (with no Fabry disease) | Adult men and women from the endocrinology and nephrology in- or out-patient clinic Receives: Other: Lipidomics |
What is being measured
The primary outcome is the main question the study is designed to answer.
Lipidomics
Lipid species from several lipid classes
Measured: Samples are going be collected during 1 year at the fasting state in the morning. At a random day in both Fabry patients with no treatment and cases. Up to 24 hours before next treatment in Fabry patients with ongoing treatment.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Sep 2021
- Study start14 Oct 2021
- Primary completion28 Apr 2024
- Study completion28 Apr 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by Vastra Gotaland RegionThe sponsor's other registered studies.
- 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
- Other
- Time perspective
- Prospective
- Enrolment
- 108 participants (actual)
Sponsor and investigators
- Lead sponsor
- Vastra Gotaland Region
- Sponsor type
- Other government
- Collaborators
- Karolinska University Hospital, Uppsala University Hospital, Sahlgrenska University Hospital
- Responsible party
- Sponsor
- Investigators
- Maria Blomqvist, Ass.Prof., Principal investigator, Västra Götalandsregion
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05046379
- Sponsor's protocol ID
- Lipidomics in Fabry
- Status last verified
- Apr 2024
- First submitted
- 6 Sep 2021
- Last updated
- 1 Oct 2024
- 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 1 Oct 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Lipidomics for Identification of New Biomarkers for Fabry Disease
- ClinicalTrials.gov ID
- NCT05046379
- Acronym / sponsor ID
- Lipidomics in Fabry
- Conditions
- Fabry Disease
- Keywords
- Biomarkers, Fabry disease, Lipidomics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 108 participants (actual)
- Lead sponsor
- Vastra Gotaland RegionOther government
- Collaborators
- Karolinska University Hospital, Uppsala University Hospital, Sahlgrenska University Hospital
- Study start
- 14 Oct 2021 (actual)
- Primary completion
- 28 Apr 2024 (actual)
- Study completion
- 28 Apr 2024 (actual)
- First posted
- 16 Sep 2021 (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.
Compare levels of lipids between well characterised enzymatically-genetically-phenotypically patients with Fabry disease and healthy controls (with no Fabry disease).
Correlate levels of lipids in patients with Fabry disease to clinical outcomes/manifestations of the disease.
Detailed description
The hypothesis is that Sphingosine-1 Phosphate (S1P) or any other related sphingoid bases and/or other lipid class could be a marker of the severity of cardiovascular remodelling in Fabry disease.
The overall approach is, by minimising possible pre-analytical and analytical biases, to study by lipidomics in well characterised enzymatically, genetically and phenotypically patients with Fabry disease, if S1P or any other lipid (including other glycosphingolipids) is shown to be a biomarker for the diagnosis, monitoring of disease activity and prognosis (including cardiovascular outcomes).
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with Fabry disease | – | Other: LipidomicsAdult men and women with well characterized Fabry disease |
| Healthy controls (with no Fabry disease) | – | Other: LipidomicsAdult men and women from the endocrinology and nephrology in- or out-patient clinic |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Adult men and women with well characterized Fabry disease and adult men and women with no Fabry disease and liver disease with elevated transaminases and ongoing infection.
Key inclusion criteria (7 listed)
- Adult men and women
- Well characterized Fabry disease in terms of i. alpha-Gal A enzyme activity, ii. mutation in alpha-Gal A (GLA) gene, and iii. disease manifestations
- Followed at one of the 3 centers for patients with Fabry disease in Sweden (Karolinska in Stockholm, Sahlgrenska in Gothenburg, Akademiska in Uppsala)
- Signed informed consent prior to sample collection is mandatory for inclusion to the study.
- Adult men and women
Key exclusion criteria (3 listed)
- Fabry disease
- Liver disease with elevated transaminases
- Ongoing infection
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 |
|---|---|---|
| LipidomicsLipidomics is the large-scale study of lipids (fats and fat-like molecules) within biological systems. It involves identifying and quantifying the wide variety of lipids in cells, tissues, or organisms to understand their roles in metabolism, signaling, and disease. Lipidomics is a subfield of metabolomics and uses advanced analytical techniques, like mass spectrometry, to profile lipid molecules. It helps in studying how lipids contribute to cellular functions, disease development, and responses to therapies. | Other | Healthy controls (with no Fabry disease), Patients with Fabry disease |
Primary outcome
Lipidomics
Time frame: Samples are going be collected during 1 year at the fasting state in the morning. At a random day in both Fabry patients with no treatment and cases. Up to 24 hours before next treatment in Fabry patients with ongoing treatment.
Lipid species from several lipid classes
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Oct 2024.
- Individual participant dataSharing planned: No
Related trials for Fabry Disease
RecruitingPhase 3
A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease
Fabry Disease
RecruitingObservational study
A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
Fabry Disease
RecruitingObservational study
A Study of Patients With Fabry Disease (US Specific)
Fabry Disease
Active, not recruiting
Evaluation of the Effect of a Low-FODMAP Diet on Gastrointestinal Symptoms and Inflammatory Markers in Fabry Patients
Fabry Disease
RecruitingPhase 3
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
Fabry Disease
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.
Maria Blomqvist, Ass.Prof. principal investigator
Västra Götalandsregion
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Vastra Gotaland Region at 3 sites in Sweden.
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 7 inclusion and 3 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: finished, as of the sponsor's last update on 1 Oct 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Sweden. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Lipidomics (time frame: Samples are going be collected during 1 year at the fasting state in the morning. At a random day in both Fabry patients with no treatment and cases. Up to 24 hours before next treatment in Fabry patients with ongoing treatment.). 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 1 Oct 2024; AzTrials last refreshed its copy on 7 Nov 2026.