screening of Fabry disease in Taiwan revealed a surprisingly
high incidence of the cardiac variant GLA mutation,
IVS4+919G>A (~1 in 1,500-1,600 males and ~1 in 750-800 females).
It is estimated that at least 20,000 individuals carrying this
mutation in Taiwan. Further family studies of the newborns
having IVS4+919G>A revealed 82 adults with this mutations, and
37 of whom have already developed hypertrophic cardiomyopathy.
The preliminary data by screening
the patients with hypertrophic
cardiomyopathy for Fabry disease in our Cardiac Clinics
also showed that approximately 10 % of adults with HCM were
caused by Fabry disease. These results strongly suggest that
Fabry disease represent a major health issue in Taiwan,
especially for mid aged adults. The annual cost of the enzyme
replacement therapy of Fabry disease is very high, around 10
million NT dollars per person. In our estimation, at least 4000
patients who have already had disease onset may need ERT. It
will cost at least 40 billion NT dollar per year in ERT in
Taiwan. Therefore, it is very important to find other possible
alternative therapies to reduce the cost for treatment.
“Taiwan Clinical Trial
Consortium in Fabry Disease” is established to solve the
foregoing problems. The consortium is comprised of Confirmatory
Diagnosis Center, Translational Research Center, Data Management
Center, Clinical Research Center and Bio-sample Bank and we
strive for excellence in achieving the following objectives:
up the Taiwan Clinical Trial Consortium in Fabry Disease as one
of the best Fabry disease clinical study groups in the world.
help Taiwan or international medical device companies to develop
the reliable biomarkers or new diagnosis methods of Fabry
investigator initiated studies for novel variant types of Fabry
attract international pharmaceutical companies to perform their
Fabry disease clinical trials on led by the principal
investigators in Taiwan.
help Taiwan or international pharmaceutical companies to
initiate the Fabry disease new therapeutic drugs development.