Status:
TERMINATED
Enzyme Replacement Therapy in Fabry Disease
Lead Sponsor:
Mario Negri Institute for Pharmacological Research
Conditions:
Fabry Disease
Eligibility:
All Genders
16-65 years
Brief Summary
Fabry disease is an X-linked rare metabolic disease, caused by a deficient activity of the hydrolase α-Galactosidase A, and characterized by a progressive and systematic deposition of glycosphingolipi...
Detailed Description
INTRODUCTION Fabry disease is an X-linked error of glycosphingolipid catabolism caused by the deficient activity of the lysosomal hydrolase α-galactosidase A (α-gal A) in tissues and fluids of affecte...
Eligibility Criteria
Inclusion
- age ≥ 16 years and ≤ 65 years
- clinical diagnosis of Fabry disease, confirmed by α-galactosidase A assay and detection of mutation in α-GalA gene
- serum creatinine ≥ 1.4 mg/dl (females) and ≥ 1.6 mg/dl (males) and/or proteinuria ≥ 0.4 g/24h
- written informed consent
Exclusion
- any clinically relevant condition that may affect study participation and/or study results
- inability to fully understand the purpose and the risks of the study
Key Trial Info
Start Date :
December 1 2002
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
November 1 2014
Estimated Enrollment :
2 Patients enrolled
Trial Details
Trial ID
NCT00149318
Start Date
December 1 2002
End Date
November 1 2014
Last Update
November 10 2014
Active Locations (1)
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1
Clinical Research Center for Rare Diseases
Ranica, Bergamo, Italy, 24020