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A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease

This study has been completed.
Information provided by:
Amicus Therapeutics Identifier:
First received: January 27, 2006
Last updated: August 17, 2010
Last verified: August 2010

January 27, 2006
August 17, 2010
January 2006
March 2008   (final data collection date for primary outcome measure)
Safety and tolerability
Same as current
Complete list of historical versions of study NCT00283933 on Archive Site
  • Pharmacodynamic parameters
  • Functional parameters (cardiac, renal, CNS)
Same as current
Not Provided
Not Provided
A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease
A Phase 2, Open-Label, Single Dose Level, 24-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients With Fabry Disease

The purpose of this study is to collect information on the safety of AT1001 (migalastat hydrochloride) and how AT1001 works in patients with Fabry disease.

The purpose of this study is to determine the effect of AT1001 given orally to patients with Fabry disease. Patients will visit the clinic 4 weeks prior to dosing to determine their eligibility for the study, and then return for a second visit for baseline and safety assessments, which will include skin, cardiac, and renal biopsies. Patients will receive oral doses of AT1001 for 24 weeks and will visit the clinic 6 times, once every 4 weeks, for evaluation and tests. A skin biopsy will be repeated after 12 weeks, and then a final set of skin, cardiac, and renal biopsies, and functional assessments will be performed at the end of 24 weeks. Patients may be given the opportunity to enter a study extension phase for an additional 24 weeks, which will require two more clinic visits. All study participants will have a final follow up visit 2 weeks after the end of the study.

Phase 2
Allocation: Non-Randomized
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Fabry Disease
Drug: AT1001 (migalastat hydrochloride)
Not Provided
Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, Jennette CJ, Bragat A, Castelli J, Sitaraman S, Lockhart DJ, Boudes PF. Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis. 2012 Nov 24;7:91. doi: 10.1186/1750-1172-7-91.

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
March 2008
March 2008   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Males between 18 and 65 years of age (inclusive)
  • Hemizygous for Fabry disease
  • Have a confirmed diagnosis of Fabry disease with a documented missense gene mutation (individual or familial)
  • Have enhanceable enzyme activity based on in vitro tests
  • Have documented evidence of cardiac and/or renal dysfunction (e.g., abnormal ECG, left ventricular hypertrophy, renal insufficiency)
  • 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.
  • Must be willing to undergo two kidney, two cardiac, and three skin biopsies
  • Agree 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
  • Willing and able to sign an informed consent form

Exclusion Criteria:

  • History of significant disease other than Fabry disease
  • History of organ transplant
  • Serum creatinine greater than 176 mmol/dL on Day -2
  • Screening 12-lead ECG demonstrating QTc > 450 msec prior to dosing
  • Pacemaker or other contraindication for MRI scanning
  • Taking a medication prohibited by the protocol or any experimental therapy for any indication
  • Participated in a clinical trial in the last 30 days
  • 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
18 Years to 65 Years
Contact information is only displayed when the study is recruiting subjects
Canada,   France,   United Kingdom
AA1565522 (FAB-CL-203)
Not Provided
Not Provided
Amicus Therapeutics
Not Provided
Principal Investigator: Perry Elliot, MD London Heart Hospital
Amicus Therapeutics
August 2010

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP