Fabry Disease MedDRA version: 8.1 Level: LLT Classification code 10016016
Conditions
Interventions
Product Name: 1- Deoxygalactonojirimycin
Product Code: AT1001
Pharmaceutical Form: Capsule, hard
INN or Proposed INN: N/A
CAS Number: 75
Sponsors
Amicus Therapeutics
Eligibility
Sex/Gender
Male
Inclusion criteria
Inclusion criteria: Patients must be adult males between 18 and 65 years of age (inclusive) and hemizygous 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 30 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 previous cardiac biopsy, or renal insufficiency documented by common clinical assessments such as creatinine and glomerular filtration rate or by renal biopsy. Patient agrees to be sexually abstinent or use a condom with spermicide when engaging in sexual activity during the course of the study and for a period of 30 days following their completion of the study. Patients must be previously untreated by ERT or substrate depletion for Fabry disease, or if ERT or other specific treatment for Fabry disease was administered, must stop ERT for at least 30 weeks or up to 13 months (in the judgment of the investigator, it must be considered safe for the patient to stop therapy for the duration of the study). Patients must be willing to undergo two renal and three skin biopsies. Patients must be willing and able to sign an informed consent form. 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: he 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 th 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 patients with Fabry disease; Secondary Objective: To evaluate the pharmacodynamic effect on plasma (leukocytes), urine, skin, and renal tissue of oral AT1001 in patients with Fabry disease. To provide a preliminary assessment of cardiac, renal and CNS function in patients with Fabry disease receiving AT1001. ;Primary end point(s): The primary endpoint of this study is to evaluate the safety and tolerability of oral AT1001 in patients with Fabry disease. As such, the primary outcome measure for this study will be the frequency of adverse events (AEs), specifically AEs deemed to be related to study drug. Measures that will be used to assess AEs include vital signs (blood pressure, heart rate, temperature, respiratory rate), physcial examinations, clinical laboratory safety tests (haematology, serum chemistry, urinalysis), electrocardiograms, and echocardiograms. | — |
Countries
United Kingdom
Outcome results
None listed