A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease
Condition: Fabry Disease
MeSH terms: Fabry Disease
Intervention: migalastat HCl
Phase: Phase 2
Study type: Interventional
Primary purpose: Treatment
Allocation: Randomized
Intervention model: Parallel Assignment
Masking: None (Open Label)
Enrollment: 9.0
Sex: Female
Minimum age: 18 Years
Maximum age: 65 Years
Healthy volunteers: No
Keywords: Amicus Therapeutics; AT1001; Galafold; Migalastat; Substrate

Summary:

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

Eligibility 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.