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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 (Responsible Party):
Amicus Therapeutics Identifier:
First received: January 27, 2006
Last updated: April 8, 2015
Last verified: April 2015
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 Intervention Phase
Fabry Disease
Drug: AT1001 (migalastat hydrochloride)
Phase 2

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: 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

Resource links provided by NLM:

Further study details as provided by Amicus Therapeutics:

Primary Outcome Measures:
  • Safety and tolerability [ Time Frame: Week 24 or Week 48 ]

Secondary Outcome Measures:
  • Pharmacodynamic parameters [ Time Frame: Week 24 or Week 48 ]
  • Functional parameters (cardiac, renal, CNS) [ Time Frame: Week 24 or Week 48 ]

Enrollment: 5
Study Start Date: January 2006
Study Completion Date: March 2008
Primary Completion Date: March 2008 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: 150 mg capsules
single does, oral migalastat HCl (AT1001) administered every other day
Drug: AT1001 (migalastat hydrochloride)

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 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.

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, 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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00283933

Canada, Quebec
Université de Montréal, Hôpital du Sacré-Coeur de Montréal
Montréal, Quebec, Canada, H4J 1C5
Hôpital Europeen Georges Pompidou
Paris, France
United Kingdom
The Royal Free Hospital, Lysosomal Storage Disorders Unit, Department of Haematology
London, United Kingdom, NW3 2QG
National Hospital for Neurology & Neurosurgery , Charles Dent Metabolic Unit
London, United Kingdom, WC1N 3BG
Sponsors and Collaborators
Amicus Therapeutics
Principal Investigator: Perry Elliot, MD London Heart Hospital
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Amicus Therapeutics Identifier: NCT00283933     History of Changes
Other Study ID Numbers: AA1565522 (FAB-CL-203)
Study First Received: January 27, 2006
Last Updated: April 8, 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 processed this record on April 28, 2017