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Trial record 12 of 153 for:    "Fabry disease"

Fabry Disease in Cerebrovascular Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02859363
Recruitment Status : Unknown
Verified August 2016 by Tsong-Hai Lee, Chang Gung Memorial Hospital.
Recruitment status was:  Recruiting
First Posted : August 9, 2016
Last Update Posted : August 10, 2016
Information provided by (Responsible Party):
Tsong-Hai Lee, Chang Gung Memorial Hospital

Brief 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.

Condition or disease Intervention/treatment
Fabry Disease Genetic: 26 common Fabry mutation types in Taiwan

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.

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Study Type : Observational
Estimated Enrollment : 700 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Improving the Diagnostic Rate of Fabry Disease in Patients With Cerebrovascular Involvement in Taiwan- a Cohort Screening Program
Study Start Date : March 2016
Estimated Primary Completion Date : March 2017
Estimated Study Completion Date : August 2017

Resource links provided by the National Library of Medicine

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.

Primary Outcome Measures :
  1. Conclusive diagnosis of Fabry disease [ Time Frame: 12 months ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 55 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02859363

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Contact: Tsong-Hai Lee, MD, PhD +886-3-3281200 ext 8340

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Stroke center, Department of Neurology, Linkou Chang Gung Memorial Hospital Recruiting
Kweishan, Taoyuan, Taiwan, 333
Contact: Tsong-Hai Lee, MD, PhD    +886-3-3281200 ext 8340   
Principal Investigator: Tsong-Hai Lee, MD, PhD         
Sponsors and Collaborators
Chang Gung Memorial Hospital


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Responsible Party: Tsong-Hai Lee, Professor of Neurology, Chang Gung Memorial Hospital Identifier: NCT02859363     History of Changes
Other Study ID Numbers: Fabry Ver. 2_20160301_CGMH-LK
First Posted: August 9, 2016    Key Record Dates
Last Update Posted: August 10, 2016
Last Verified: August 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
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Fabry Disease
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
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders