A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease

• Status: Completed
• Trial end date: 2008-05-09
• Target enrollment: 0
• Participant gender: Female

Summary

Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Amicus Therapeutics

Criteria

Inclusion Criteria:

• Females between 18 and 65 years of age (inclusive)

• Heterozygous for Fabry disease

• Had a confirmed diagnosis of Fabry disease with a documented missense gene mutation (individual or familial)

• Had enhanceable enzyme activity based on in vitro tests

• Were naïve to enzyme replacement therapy (ERT) and other therapies, except for palliative therapies for the signs and symptoms of Fabry disease, or stopped ERT for at least 18 weeks

• Had end organ dysfunction, even minimal, demonstrated by abnormal electrocardiogram (ECG) or evidence of left ventricular hypertrophy documented by 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 dysfunction as documented by evidence of stroke (clinically or imaging); or peripheral nervous tissue dysfunction documented by complaints of intolerance to heat or cold, decreased vibratory sense and proprioception, decreased ability to perspire, or acroparesthesia.

• Were willing to undergo 2 renal and 3 skin biopsies

• Agreed 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.

• Were willing and able to provide written informed consent

Exclusion Criteria:

• Pregnant or lactating

• History of organ transplant

• History of significant disease other than Fabry disease (for example, end-stage renal disease; Class III or IV heart disease [per the New York Heart Association classification]; current diagnosis of cancer, except for basal cell carcinoma of the skin; diabetes [unless hemoglobin A1c ≤8]; or neurological disease that would have impaired the participant's ability to participate in the study)

• Serum creatinine >176 micromoles/liter on Day -2

• Screening 12-lead ECG demonstrating corrected QT interval >450 milliseconds

• Pacemaker or other contraindication for magnetic resonance imaging scanning

• Taking a medication prohibited by the protocol: Fabrazyme® (agalsidase beta), Replagal™ (agalsidase alfa), Glyset® (miglitol), Zavesca® (miglustat), or any experimental therapy for any indication

• Participated in a previous clinical trial in the last 30 days

• Any other condition which, in the opinion of the investigator would jeopardize the safety of the participant or impact the validity of the study results.