Studying Lipids as Potential Biomarkers in Patients With Fabry Disease

Fabry Disease Clinical Trial

Official title:

Lipidomics for Identification of New Biomarkers for Fabry Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05046379
• Other study ID #: Lipidomics in Fabry
• Status: Recruiting
• Start date: October 14, 2021
• Est. completion date: December 2024

Study information

• Verified date: October 2022
• Source: Vastra Gotaland Region
• Contact: Dimitrios Chantzichristos, MD PhD
• Phone: +46313428547
• Email: dimitrios.chantzichristos[@]vgregion.se
• Is FDA regulated: No
• Study type: Observational

Clinical 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.

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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: December 2024
• Est. primary completion date: December 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion criteria for cases:

• Adult men and women
• Well characterized Fabry disease in terms of i. alpha-Gal A enzyme activity, ii. mutation in 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

Related Conditions & MeSH terms

• Fabry Disease

Locations

Country	Name	City	State
Sweden	Sahlgrenska University Hospital	Gothenburg
Sweden	Karolinska University Hospital	Stockholm
Sweden	Akademiska University Hospital	Uppsala

Sponsors (4)

Lead Sponsor	Collaborator
Vastra Gotaland Region	Göteborg University, Karolinska University Hospital, Uppsala University Hospital

Country where clinical trial is conducted

Sweden, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Lipidomics	Lipid species from several lipid classes	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.