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

NCT03230149 | Completed

• 1 other identifier: HAO16026
• Study Type: observational
• Target: 379
• Locations: 1 country
• Sites: 1

Brief 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

Fabry Disease

Keywords

Fabry; Stroke; Cerebrovascular Accident; small fiber neuropathy

Outcome Measures

Primary Outcomes (1)

• frequency of FD in a cohort of stroke patients

  number of patients with fabry disease in the cohort of stroke patients (1000 patients)

  at the end of the study (an average of 2 years)

Secondary Outcomes (1)

• frequency of FD in a cohort of Small fiber neuropathy (SFN) patients

  at the end of the study (an average of 2 years)

Study Arms (1)

Molecular and genetic tests

Measurements of the alpha-GAL enzyme activity will be performed knowing that for male patients with alpha-GAL activities below the cut-off value and all female patients, a blood sampling for full genetic sequencing of all seven exons including promotors of the a-GAL gene will be done

Diagnostic Test: Measurements of the alpha-GAL enzyme activity

Interventions

Measurements of the alpha-GAL enzyme activity DIAGNOSTIC_TEST

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.

Molecular and genetic tests

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Patients between 18 and 60 years old diagnosed with a TIA/ strocke or a SFN

You may qualify if:

• patient over 18 yo and under 60 yo
• diagnosed with a TIA / stroke (ischemic and haemorrhagic strokes) based on clinical evaluation and MRI
• diagnosed with small fibers neuropathy (SFN) with normal nerve conduction studies in conventional electrophysiology

You may not qualify if:

• patients over 60 yo

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• Shire International GmbH: collaborator

Study Sites (1)

CHU de Bicêtre, UNSIV (neurovascular stroke unit)

Le Kremlin-Bicêtre, 94270, France

Location

MeSH Terms

Conditions

Fabry Disease; Stroke; Small Fiber Neuropathy

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; Peripheral Nervous System Diseases; Neuromuscular Diseases

Study Design

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

Study Record Dates

• First Submitted: July 24, 2017
• First Posted: July 26, 2017
• Study Start: March 12, 2018
• Primary Completion: December 24, 2021
• Study Completion: December 24, 2021
• Last Updated: September 7, 2022

Record last verified: 2022-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)