A Randomized, Open-Label, Study to Compare the Efficacy and Safety of AT1001 and Enzyme Replacement Therapy (ERT) in Patients With Fabry Disease and AT1001-Responsive GLA Mutations, Who Were Previously Treated With ERT - AT1001-012

Conditions: Fabry disease
MedDRA version: 14.1Level: PTClassification code 10016016Term: Fabry's diseaseSystem Organ Class: 10010331 - Congenital, familial and genetic disorders
Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

Registration Number: EUCTR2010-022636-37-IT

Lead Sponsor: AMICUS THERAPEUTICS, INC

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 50

Inclusion Criteria

Male or female, diagnosed with Fabry disease and between 16 and 74 years of age, inclusive at Visit 1; Confirmed GLA mutation shown to be responsive to AT1001 in the in vitro HEK-293 cell-based assay, or a confirmed GLA mutation that is non-testable in this assay, but has evidence to suggest the potential to respond to AT1001;Initiated treatment with ERT at least 12 months before Visit 2 ;Dose level and regimen of ERT have been stable for the 3 months before Visit 2 and is at least 80% of the currently labeled dose for this time period; GFR = 30mL/min/1.73 m2 ;If taking angiotensin converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) has been on a stable dose for at least the 4 weeks before Visit 1; If of reproductive potential, agree to use medically accepted methods of contraception throughout the duration of the study and for up to 30 days after last dose of protocol defined study medication: For sites in Italy: If of reproductive potential, agree to plan (or have their partner plan) with his/her physician a birth control strategy (or method) in order to avoid pregnancy throughout the duration of the study and for up to 30 days after last dose of protocol defined study medication;Able to provide written informed consent, and assent if applicable. Subjects under 18 years of age will provide written informed assent, and written informed consent will be provided by their parent or legal guardian
Are the trial subjects under 18? yes
Number of subjects for this age range: 1
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 54
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range 5

Exclusion Criteria

1. Undergone, or is scheduled to undergo, kidney transplantation or any other solid organ transplantation 2. On regular dialysis that is specifically for the treatment of chronic kidney disease 3. Had a documented transient ischemic attack, stroke, unstable angina, or myocardial infarction within the 3 months before Visit 1 4. Has clinically significant unstable cardiac disease in the opinion of the investigator (e.g., cardiac disease requiring active management, such as symptomatic arrhythmia, unstable angina, or NYHA class III or IV congestive heart failure) 5. Is pregnant or breast-feeding 6. Has a history of allergy or sensitivity to AT1001 (including excipients) or other iminosugars (e.g., miglustat, miglitol) 7. Has absolute contraindication to iohexol and/or inability to undergo iohexol GFR testing 8. Requires treatment with Glyset (miglitol), or Zavesca (miglustat) 9. Received any investigational/experimental drug, biologic or device within 30 days of Visit 1 10. Has any intercurrent illness or condition that may preclude the subject from fulfilling the protocol requirements or suggests to the investigator that the potential subject may have an unacceptable risk by participating in this study 11. Is otherwise unsuitable for the study, in the opinion of the investigator