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Fabry Disease in Cerebrovascular Disease

NCT02859363 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 700

Last updated 2016-08-10

No results posted yet for this study

Summary

Fabry disease is an X-linked disorder of glycosphingolipid catabolism caused by a deficiency of the enzyme α-galactosidase A (α-Gal A), which leads to a progressive accumulation of globotriaosylceramide (Gb-3) in plasma and tissue lysosomes throughout the body. Lysosomal accumulation can result in lysosomal and cellular dysfunction, which leads to renal, cardiac, and central nervous system (CNS) complications.

It is estimated that 1 in 40,000 males has Fabry disease, whereas the estimated prevalence in the general population is 1 in 117,000 people. Newborn screenings for both classical and atypical Fabry disease in Taiwan also revealed a markedly high incidence of 1 in 2,300 and 1 in 3,000 newborns. Cerebrovascular variant Fabry disease may affect up to 4.9% of male patients and 2.4% of female patients with idiopathic stroke.

The diagnosis of Fabry disease can be challenging due to the diverse signs and symptoms, different ages of onset, and variable timing and severity of progression. The importance of Fabry disease lies in the irreversible renal, cardiac, cerebrovascular, and neurological damage. An early diagnosis of Fabry disease is important for initiating symptom management and reducing life-threatening complications, as well as for early identification of other affected family members. Therefore, the present study would like to conduct further screening of high-risk group of early cerebrovascular involvement that is essential for the successful management of Fabry disease.

Conditions

Interventions

GENETIC

26 common Fabry mutation types in Taiwan

Historical DNA samples from projects 103-3254C (98-3889A3) and 100-4008C (97-0470B) will perform specific genetic testing.

Sponsors & Collaborators

  • Sanofi

    collaborator INDUSTRY

  • Chang Gung Memorial Hospital

    lead OTHER

Eligibility

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

Timeline & Regulatory

Start
2016-03-31
Primary Completion
2017-03-31
Completion
2017-08-31

Countries

  • Taiwan

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Entities

Diseases
Companies

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 NCT02859363 on ClinicalTrials.gov