Fabry disease
Conditions
Interventions
None listed
Sponsors
Osaka University Graduate School of Medicine, Division of Health Science, Child Healthcare and Genetic Science Laboratory
Translational Research Center for Medical Innovation, Foundation for Biomedical Research and Innovation at Kobe
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) Patients who were diagnosed as Fabry disease and meet the following criteria. Male -Male patients who can be diagnosed as having Fabry disease by their enzyme activities. Female -Female patients who can be diagnosed by genetic test or genetically confirmed (family history) as having Fabry disease. And, can be diagnosed as Fabry disease by decrease of enzyme activities or clinical presentation. 2) Patients who are receiving, or scheduled to receive enzyme replacement therapy with agalsidase beta BS. 3) Patients who are fully informed of and understand about the study and provide the written consent to participate in the study by themselves or their representatives. (For minor patients aged 16 years or older at informed consent, consent generally should be obtained from themselves.)
Exclusion criteria
Exclusion criteria: 1) Patients who received before, are receiving now or are scheduled to receive Hematopoietic Stem Cell Transplantation / Chaperone therapy. 2) Patients who are considered as ineligible for the study by the investigator.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To investigate correlation between plasma lyso-GL-3 and clinical features as follows; Plasma GL-3, eGFR, Urinary protein-to-creatinine ratio, BNP, LV mass index, EF, Presence of cardiac hypertrophy, Urinary mulberry body | — |
Countries
Japan
Contacts
Public ContactNorio Sakai
Osaka University Graduate School of Medicine, Division of Health Science Child Healthcare and Genetic Science Laboratory
Outcome results
None listed