A 12-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00283959
Recruitment Status : Completed
First Posted : January 31, 2006
Last Update Posted : April 15, 2015
Information provided by (Responsible Party):
Amicus Therapeutics

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Fabry Disease Drug: AT1001 (migalastat hydrochloride) Phase 2

Detailed Description:
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 12 weeks and will visit the clinic 3 more times, once every 4 weeks, for evaluation and tests. Skin, cardiac, and renal biopsies, and functional assessments will be performed at the end of the 12 week period. Patients may be given the opportunity to enter a study extension phase for an additional 36 weeks, which will require three more clinic visits, and a final set of functional tests and biopsies. All study participants will have a final follow up visit 2 weeks after the end of the study.

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 4 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Phase 2, Open-Label, Single Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients With Fabry Disease
Study Start Date : March 2006
Actual Primary Completion Date : May 2008
Actual Study Completion Date : May 2008

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Arm Intervention/treatment
Experimental: 150 mg capsule
oral migalastat HCl (AT1001) administered every other day.
Drug: AT1001 (migalastat hydrochloride)
administered every other day

Primary Outcome Measures :
  1. Primary: Safety and tolerability. [ Time Frame: All visits ]

Secondary Outcome Measures :
  1. Secondary: Pharmacodynamic and functional (cardiac, CNS/PNS, and renal) parameters. [ Time Frame: All visits ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 65 Years   (Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

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 and 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 1.5 mg/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: Fabrazyme (agalsidase beta), Replagal (agalsidase alfa), Glyset (miglitol), Zavesca (miglustat), 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00283959

Australia, Victoria
Royal Melbourne Hospital, Department of Nephrology
Parkville, Victoria, Australia, 3050
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre
Porto Alegre, Brazil
Sponsors and Collaborators
Amicus Therapeutics
Principal Investigator: Roberto Giugliani, MD, PhD Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Amicus Therapeutics Identifier: NCT00283959     History of Changes
Other Study ID Numbers: AA1565521 (FAB-CL-202)
First Posted: January 31, 2006    Key Record Dates
Last Update Posted: April 15, 2015
Last Verified: March 2015

Additional relevant MeSH terms:
Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders