Studying Lipids as Potential Biomarkers in Patients With Fabry Disease

NCT05046379 | Completed

• 1 other identifier: Lipidomics in Fabry
• Study Type: observational
• Target: 108
• Locations: 1 country
• Sites: 3

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.

Conditions

Fabry Disease

Keywords

Biomarkers; Fabry disease; Lipidomics

Outcome Measures

Primary Outcomes (1)

• 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.

Study Arms (2)

Patients with Fabry disease

Adult men and women with well characterized Fabry disease

Other: Lipidomics

Healthy controls (with no Fabry disease)

Adult men and women from the endocrinology and nephrology in- or out-patient clinic

Other: Lipidomics

Interventions

Lipidomics OTHER

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.

Healthy controls (with no Fabry disease); Patients with Fabry disease

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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)
• 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

You may not qualify if:

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

Sponsors & Collaborators

• Vastra Gotaland Region: lead
• Karolinska University Hospital: collaborator
• Uppsala University Hospital: collaborator
• Sahlgrenska University Hospital: collaborator

Study Sites (3)

Sahlgrenska University Hospital

Gothenburg, Sweden

Location

Karolinska University Hospital

Stockholm, Sweden

Location

Akademiska University Hospital

Uppsala, Sweden

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Biobank Väst

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Maria Blomqvist, Ass.Prof.

  Västra Götalandsregion

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 6, 2021
• First Posted: September 16, 2021
• Study Start: October 14, 2021
• Primary Completion: April 28, 2024
• Study Completion: April 28, 2024
• Last Updated: October 1, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

SE (3)