Fabry disease.
Conditions
Interventions
Patients will receive 0,2mg/kg Fabrazyme (agalsidase beta) or 0,2 mg/kg Replagal (agalsidase alpha), every two weeks for a minumum of 12 months. If there's treatment failure (progression of renal dise
Sponsors
Sponsor:
College voor Zorgverzekeringen (dutch health care insurance board).
Initiator:
Dr. C.E.M. Hollak, internist
Dept. of Internal Medicine, F4-279
Academic Medical Center
PO box 22660
1100 DD Amsterdam
The Netherlands
tel. +31-20-5666071
fax: +31-20-6919743
e-mail: c.e.hollak@amc.uva.nl
Eligibility
Inclusion criteria
Inclusion criteria: 1. The patient must have given written informed consent; 2. Patients must be 18 years or older; 3. Patient must have a current diagnosis of Fabry disease; 4. Patients must have a decreased á-Gal activity or proven alfa-Gal A mutation; 5. Female patients must have a negative pregnancy test, and must use a medically accepted method of contraception; 6. Patients must be willing to comply to the evaluation program; 7. Patients must have a clinical presentation consistent with either typical or atypical Fabry disease. Patients must have at least one major or two minor objective criteria: Major: a. Severe acroparesthesias, that cannot satisfactorily be controlled with Carbamazepine; b. Decreased GFR 300 mg/ml; d. Documented CVA; e. Cardiac infarction; f. Hypertrophic Non-obstructive Cardiomyopathy resulting in decreased exercise tolerance; g. Rhythm disturbances necessitating a pacemaker; h. Multiple lacunar infarctions on MRI; Minor: i. Documented TIA; j. Cardiac hypertrophy on echo or MRI; k. Atrial fibrillation; l. Intraventricular conduction abnormality; m. Sensoric hearing loss as shown on a hearing test; n. Severe vertigo; o. Micro-albuminuria > 50 mg/L; p. Mild to moderate acroparesthesias;br> q. Gastro-intestinal complaints that can not be explained by other medical conditions than Fabry disease.
Exclusion criteria
Exclusion criteria: 1. Patient is pregnant or lactating; 2. Patient is unwilling to comply to the evaluation program.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Wall-thickness (septum and left and right ventricle wall) / end-diastolic volume) on echocardiography. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Improvement of renal function as measured by GFR; 2. Reduction of glycolipid accumulation in skin tissue (LM and biochemistry); 3. Reduction in pain as measured by the BPI; 4. Reduction in glycosphingolipid in plasma and 24-hr urine; 5. Quality of life scores (SF-36). | — |
Contacts
Public ContactA.C. Vedder
Academic Medical Center (AMC), Department of Internal Medicine, F4-247, P.O. Box 22660
Outcome results
None listed