A Phase 2, Open-Label, Multiple Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Female Patients with Fabry Disease - Phase 2 Study of AT1001 in Female Patients with Fabry Disease
- Conditions
- Fabry diseaseMedDRA version: 8.1 Level: LLT Classification code 10016016
- Registration Number
- EUCTR2006-000181-36-GB
- Lead Sponsor
- Amicus Therapeutics, Inc.
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Recruiting
- Sex
- Not specified
- Target Recruitment
- 0
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
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 <= 8); or neurological disease that impairs her ability to participate in the study); serum creatinine is greater than 176 umol/L on day -2; QTc interval is > 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.
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method