Clinical trial NCT05046379: Studying Lipids as Potential Biomarkers in Patients With Fabry Disease
Official title: Lipidomics for Identification of New Biomarkers for Fabry Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fabry Disease
Keywords: Biomarkers
Fabry disease
Lipidomics
Lead sponsor: Vastra Gotaland Region
Sponsor class: OTHER_GOV
Collaborators: name: Karolinska University Hospital
name: Uppsala University Hospital
name: Sahlgrenska University Hospital
First posted: 2021-09-16
Enrollment: 108
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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.

Brief 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.

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).

Eligibility criteria: Inclusion criteria for cases:

* 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.

Inclusion criteria for controls:

* 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

Exclusion criteria for controls:

* Fabry disease
* Liver disease with elevated transaminases
* Ongoing infection

Primary outcomes:
measure: Lipidomics
timeFrame: 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.
Secondary outcomes:
Other outcomes:
Locations:
city: Gothenburg
country: Sweden
facility: Sahlgrenska University Hospital
city: Stockholm
country: Sweden
facility: Karolinska University Hospital
city: Uppsala
country: Sweden
facility: Akademiska University Hospital
Study officials:
affiliation: Västra Götalandsregion
name: Maria Blomqvist, Ass.Prof.
role: PRINCIPAL_INVESTIGATOR
References: