Fabry disease MedDRA version: 8.1 Level: LLT Classification code 10016016
Conditions
Interventions
Product Name: 1-deoxygalactonojirimycin hydrochloride
Product Code: AT1001
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: migalastat hydrochlor
Sponsors
Amicus Therapeutics, Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients must be adult females between 18 and 65 years of age (inclusive) and heterozygous for Fabry disease. Patients must have a confirmed diagnosis of Fabry disease with a documented missense gene mutation (individual or familial) and enhanceable enzyme activity (in vitro test: meeting specific criteria for enhancement). The patients must be naïve to ERT and other therapies, except for palliative therapies for the signs and symptoms of Fabry disease or must stop ERT for at least 18 weeks or up to 13 months. Patients must have end organ dysfunction, even minimal, demonstrated by either evidence of left ventricular hypertrophy documented by abnormal ECG and echocardiogram or by cardiac biopsy, or renal insufficiency documented by common clinical assessments such as creatinine and glomerular filtration rate or by renal biopsy or brain tissue as documented by evidence of stroke (clinically or imaging), or peripheral nervous tissue documented by complaints of intolerance to heat or cold, decreased vibratory sense and propioception, decreased ability to perspire, or acroparesthesia. Patient agrees to be sexually abstinent or practice an effective method of contraception when engaging in sexual activity during the course of the study and for a period of 30 days following their completion of the study for women of childbearing potential. Patients must be previously untreated by ERT or substrate depletion for Fabry disease and willing to undergo two renal and two skin biopsies. Patients must be willing and able to provide written informed consent. Are the trial subjects under 18? no 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) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: The patient will be excluded from the study if: she is pregnant or lactating; she has a history of organ transplant; there is evidence of significant disease other than Fabry disease (e.g., end-stage renal disease; heart disease [per clinical history, documented event, testing or class III/IV according to the New York Heart Association classification]; current diagnosis of cancer, except for basal cell carcinoma of the skin; diabetes (unless HbA1c 450 msec; pacemaker or other contraindication for MRI scanning; taking a medication prohibited by the protocol or any experimental therapy for any indication. Patients who participated in a clinical trial in the last 30 days. Patients who have any other condition which, in the opinion of the investigator would jeopardize the safety of the patient or impact the validity of the study results.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To evaluate the safety and tolerability of oral AT1001 in female patients with Fabry disease; Secondary Objective: To gain information about the pharmacokinetics of 3 dosages of oral AT1001 in female patients with Fabry disease. To gain information about the pharmacodynamics of 3 dosages of oral AT1001 in female patients with Fabry. To provide a preliminary assessment of cardiac, renal and CNS function in female patients with Fabry disease receiving AT1001. ;Primary end point(s): The primary objective of this study is to evaluate the safety and tolerability of AT1001 in this patient population. The primary endpoints are the following safety parameters: vital signs, clinical laboratory parameters (serum chemistry, hematology, and urinalysis), electrocardiograms (ECGs), echocardiograms (ECHO), physical examination, concomitant medications, and adverse events (AEs). | — |
Countries
United Kingdom
Outcome results
None listed