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Natural History in Fabry Patients With IVS4+919G>A Mutation

NCT03222336 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 80

Last updated 2017-07-19

No results posted yet for this study

Summary

Fabry disease is caused by the deficiency or absence of alpha-galactosidase A (α-Gal A) activity, leading to progressive deposition of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosomes of multiple tissues and organs. In Taiwan, Dr. Niu first revealed a surprisingly high incidence (approximately one in 1,600 males) of a cardiac variant GLA splicing mutation, IVS4+919G\>A, in newborn screening. Patients who carried the IVS4 + 919G \> A mutation and were older than 40 years had a higher prevalence of hypertrophic cardiomyopathy. Endocardial biopsy of these patients with hypertrophic cardiomyopathy showed significant Gb3 accumulation in the cardiomyocytes. Although the hotspot IVS4+919G\>A mutation is now being observed with greater frequency, understanding of the natural course of cardiac variant Fabry disease with this specific mutation remains limited. Therefore, our study would like to conduct a study to approach the natural history among patients with Chinese hotspot late-onset Fabry mutation IVS4+919G\>A through family pedigree analysis.

Conditions

  • Fabry Disease, Cardiac Variant

Interventions

BEHAVIORAL

Family pedigree and data collection

1. Enroll first generation (newborn), at least one member from second (parent) and third generation (grandparent) for a complete IVS4 family tree mapping. 2. Collect and analyze medical history, genetic and biochemical assessment data

Sponsors & Collaborators

  • Sanofi

    collaborator INDUSTRY

  • Taipei Veterans General Hospital, Taiwan

    lead OTHER_GOV

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-09-01
Primary Completion
2020-06-01
Completion
2020-09-30

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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 NCT03222336 on ClinicalTrials.gov