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Prevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber Neuropathy

NCT03230149 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 379

Last updated 2022-09-07

No results posted yet for this study

Summary

FD is pan-ethnic. Its reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Indeed, recently, in addition with affected males FD developing a "classic" phenotype, " cardiac variant " and " renal variant " have been reported for FD patients with predominant or exclusive cardiac or renal involvement. " Neurologic variant " could exist.

Nervous system can be affect by FD leading to cerebrovascular diseases (ischemic or haemorrhagic strokes, TIA (Transient Ischemic Attacks) or peripheral neuropathy (acroparesthesias and pain).

Aims will be to determine the prevalence of Fabry disease in patients with stroke or small fiber neuropathy, and their characteristics

Conditions

Interventions

DIAGNOSTIC_TEST

Measurements of the alpha-GAL enzyme activity

Blotting paper blood tests in order to highlight an enzyme deficiency for hemizygous males with DBS kits in order to detect Fabry disease, with genetic confirmation if an abnormality is detected. For women genotyping is mandatory.

Sponsors & Collaborators

  • Shire International GmbH

    collaborator UNKNOWN

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Eligibility

Min Age
18 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-03-12
Primary Completion
2021-12-24
Completion
2021-12-24

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03230149 on ClinicalTrials.gov