Fabry Disease in Cerebrovascular Disease

August 9, 2016 updated by: Tsong-Hai Lee, Chang Gung Memorial Hospital

Improving the Diagnostic Rate of Fabry Disease in Patients With Cerebrovascular Involvement in Taiwan- a Cohort Screening Program

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Detailed Description

This is a cross-sectional, population-based study to identify Fabry disease in patients with early cerebrovascular involvement. Eligible patients are age above 18 years old (<=55 years old) with early cerebrovascular involvement and have provided inform consent. Patients who have been diagnosed Fabry disease are not eligible.

The present study will use samples of early cerebrovascular involvement patients which have been enrolled in two previous IRB approved projects [103-3254C (origin 98-3889A3), 100-4008C (origin 97-0470B)], participants of both studies have consented that participants' samples could be further investigated if needed.

Since, the investigators cannot ensure whether the condition of enzyme activity of frozen plasma sample were decayed after long-term storage and the investigators don't have available normal range of enzyme activity of historical plasma sample, the investigators will perform specific genotyping of Fabry disease for these patients according to the specific mutation variants which have been identified in Taiwan population previously.

Patients will be recalled to assess Fabry related symptoms if genetic testing has mutation finding and family screening will be performed if applicable. Further inform consent will be obtained as well.

Study Type

Observational

Enrollment (Anticipated)

700

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Taiwan
    • Taoyuan
      • Kweishan, Taoyuan, Taiwan, 333
        • Recruiting
        • Stroke center, Department of Neurology, Linkou Chang Gung Memorial Hospital
        • Contact:
        • Principal Investigator:
          • Tsong-Hai Lee, MD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 55 years (Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

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

Description

Inclusion Criteria:

  • Age >= 18 y/o
  • Both females and males who have ischemic or hemorrhagic stroke before the age of 55 y/o
  • Patient or his/her legal representatives are willing to sign the informed consent

Exclusion Criteria:

  • Ischemic or hemorrhagic stroke patients who are already diagnosed to have Fabry disease

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Young stroke
Historical DNA samples from projects 103-3254C (98-3889A3) and 100-4008C (97-0470B) will perform specific genetic testing for the 26 common Fabry mutation types in Taiwan.
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Conclusive diagnosis of Fabry disease
Time Frame: 12 months
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Chang Gung Memorial Hospital

Collaborators

Sanofi

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

March 1, 2016

Primary Completion (Anticipated)

March 1, 2017

Study Completion (Anticipated)

August 1, 2017

Study Registration Dates

First Submitted

August 4, 2016

First Submitted That Met QC Criteria

August 4, 2016

First Posted (Estimate)

August 9, 2016

Study Record Updates

Last Update Posted (Estimate)

August 10, 2016

Last Update Submitted That Met QC Criteria

August 9, 2016

Last Verified

August 1, 2016

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Fabry Ver. 2_20160301_CGMH-LK

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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