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A CLINICAL STUDY THAT WILL MEASURE THE EFFECTIVENESS AND SAFETY OF A NEW INVESTIGATIONAL MEDICATION FOR THE TREAMENT OF PATIENTS WITH FABRY DISEASE

Phase 1
Conditions
Fabry Disease
MedDRA version: 14.1 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders
Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]
Registration Number
EUCTR2009-013459-31-GB
Lead Sponsor
Amicus Therapeutics, Inc.
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
ot Recruiting
Sex
Not specified
Target Recruitment
180
Inclusion Criteria

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 have not received ERT for at least the 6 months 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 60
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

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
NameTimeMethod
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;<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> ;<br> Primary end point(s): Kidney GL-3 (interstitial capillary histology)<br> ;Timepoint(s) of evaluation of this end point: Baseline and at Month 6
Secondary Outcome Measures
NameTimeMethod
Secondary end point(s): Urine GL-3, Iohexol GFR, eGFR, and 24 hour urine protein;Timepoint(s) of evaluation of this end point: Baseline and at Month 6
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