A DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED STUDY TO EVALUATE THE EFFICACY, SAFETY AND PHARMACODYNAMICS OF AT1001 IN PATIENTS WITH FABRY DISEASE AND AT1001-RESPONSIVE GLA MUTATIONS - Study of the Effects of Oral AT1001 in Patients with Fabry Disease
- Conditions
- MedDRA version: 12.0Level: LLTClassification code 10016016Term: Fabry's diseaseFabry Disease
- Registration Number
- EUCTR2009-013459-31-BE
- Lead Sponsor
- Amicus Therapeutics, Inc.
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Recruiting
- Sex
- All
- Target Recruitment
- 60
1.Male or female between the ages of 16 and 74 inclusive, diagnosed with Fabry disease
2.Confirmed GLA mutation that has been shown to be responsive to AT1001 in vitro
3.Naïve to ERT or has not received ERT for at least 6 before Screening
4.Urine GL-3 greater than or equal to four times the upper limit of normal at Screening
5.Subjects taking angiotensin converting enzyme inhibitors (ACEIs) or angiotensin receptor blockers (ARBs) must be on a stable dose for a minimum of 4 weeks before the baseline visit
6.Male and female subjects of childbearing potential agree to use medically accepted methods of contraception during study and for 30 days after study completion
7.Subject is willing and able to provide written informed consent, and assent if applicable
Are the trial subjects under 18? yes
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range
1.Subject has undergone or is scheduled to undergo kidney transplantation, or is currently on dialysis
2.eGFR < 30 mL/min/1.73m2 (chronic kidney disease [CKD] Stage 4 or 5) based on Modification of Diet in Renal Disease [MDRD] equation at Screening
4.Pregnant or breast-feeding
5.History of allergy or sensitivity to study medication (including excipients) or other iminosugars (e.g., miglustat, miglitol)
6.Subject is treated or has been treated with any investigational drug within 30 days of the screening visit
7.Subject is currently treated or has ever been treated with AT1001
8.Any intercurrent condition or concomitant medication use considered to be an absolute contraindication to kidney biopsy or that may preclude accurate interpretation of study data
9.Otherwise unsuitable for the study, in the opinion of the Investigator.
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Main Objective: To compare the effect of AT1001 versus placebo on kidney globotriaosylceramide GL-3 as assessed by histological scoring of the number of inclusions in interstitial capillaries after 6 months of treatment;Primary end point(s): Kidney GL-3 (interstitial capillary histology): <br>The average number of GL-3 inclusions per kidney interstitial capillary is assessed by a quantitative histological method used to count GL-3 inclusions in a sample of interstitial capillaries at baseline and at Month 6 <br>;Secondary Objective: To compare the effect of AT1001 versus placebo on urine GL-3 levels as measured by liquid chromatography-mass spectrometry/mass spectrometry (LC-MS/MS) <br><br>To compare the effect of AT1001 versus placebo on renal function (iohexol glomerular filtration rate [GFR], estimated GFR [eGFR], 24-hour urine protein) <br><br>To compare the safety and tolerability of AT1001 versus placebo <br><br>
- Secondary Outcome Measures
Name Time Method