Real World Evidence Study of Danish Fabry Patients

NCT ID: NCT06303466

Last Updated: 2024-03-12

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 115 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-08-01
• Study Completion Date: 2024-12-31

Brief Summary

Fabry is a rare X-linked metabolic lysosomal disorder caused by deficiency in the enzyme α-galactosidase A (alpha-Gal A) by mutations in the GLA gene, encoding the alpha-Gal A enzyme, which catalyses glycosphingolipids, namely globotriaosylceramide (Gb3). Reduced or absent alpha-Gal A activity leads to accumulation of Gb3 in various organs as well as cellular dysfunction and inflammation causing phsyical symptoms and eventual organ failure. Treatment has been available since 2001 for Fabry patients - first enzyme replacement therapy and since 2016, an oral chaperone therapy, Migalastat. Although the initial trials of Migalastat had some both short and extended outcome treatment comparisons, the overall evidence of clinical efficacy is based on too small numbers considering the heterogeneity of the Fabry patient population as well as the very slow progression of the disease. Though the body of real-world evidence is growing, there is a need for more publications of real-world long-term data on clinical outcomes with a focus on treatment with Migalastat.

Research Question:

Is the incidence and prevalence of Fabry associated clinical events (FACEs) (cardiac, renal, and cerebrovascular) associated with sex, genotype, phenotype at time of diagnosis, biomarkers, and Fabry specific therapy?

Objectives:

• To investigate time to first Fabry associated clinical events (FACE) (cardiac, renal, and cerebrovascular) with particular focus on Migalastat clinical outcomes and treatment outcomes preceding Migalastat therapy.
• To investigate the incidence and prevalence of FACEs with respect to Fabry specific treatment, Migalastat, ERT or no treatment.
• To describe FACEs in accordance with different geno- and phenotypic groups.
• To investigate the incidence and time to a first fatal or non-fatal cardiac, renal, and cerebrovascular clinical event, separated by each category.

Primary outcomes - Time to first FACE (cardiac, renal, and cerebrovascular) with particular focus on Migalastat on clinical outcomes and treatment outcomes preceding Migalastat therapy.

Secondary outcomes

• To investigate the incidence and prevalence of FACEs with respect to Fabry specific treatment, Migalastat, ERT or no treatment.
• To describe FACEs in accordance with different geno- and phenotypic groups To investigate the incidence and time to a first fatal or non-fatal cardiac, renal and cerebrovascular clinical event, separated by each category.

Exploratory outcomes

• To describe disease progression with focus on organ involvement.

The study design is a retrospective clinical and paraclinical follow-up of the Danish National Fabry cohort in the period 01.01.2001-31.12.2022. Patient followed a structured yearly monitoring program as part of routine clincal care.

Conditions

Fabry Disease

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Study Groups

Danish Fabry Patients

Patients with a genetically-verified diagnosis of Fabry Disease.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Genetically-verified Fabry disease
• Age above or equal to 18

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Amicus Therapeutics

INDUSTRY

Sponsor Role: collaborator

Rigshospitalet, Denmark

OTHER

Sponsor Role: collaborator

Caroline Michaela Kistorp

OTHER

Sponsor Role: lead

Responsible Party

Caroline Michaela Kistorp

Professor

Responsibility Role: SPONSOR_INVESTIGATOR

Principal Investigators

Caroline M Kistorp, MD, Ph.D

Role: PRINCIPAL_INVESTIGATOR

Rigshospitalet, Denmark

Locations

Rigshospitalet

Copenhagen, , Denmark

Countries

Denmark

Provided Documents

Document Type: Study Protocol

View Document

Document Type: Statistical Analysis Plan

View Document

Other Identifiers

R-23053109

Identifier Type: -

Identifier Source: org_study_id