Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) 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: NCT00925301
Recruitment Status : Completed
First Posted : June 22, 2009
Last Update Posted : May 2, 2016
Information provided by (Responsible Party):
Amicus Therapeutics

Brief Summary:
The purpose of this study is to compare the effect of AT1001 (migalastat hydrochloride) versus placebo on kidney GL-3.

Condition or disease Intervention/treatment Phase
Fabry Disease Drug: migalastat hydrochloride Drug: Placebo Phase 3

Detailed Description:

This double-blind, randomized, placebo-controlled study will be conducted in 60 patients at approximately 40 sites worldwide. The study will consist of two stages and an open-label treatment extension phase:

Stage 1 includes a screening period of up to 2 months followed by a 6-month treatment period which will involve 4 visits to the clinic. Patients will be randomized in equal proportions to receive either AT1001 or placebo.

After completing the 6-month double-blind phase, all patients will enter Stage 2 of the study and receive AT1001 in an open-label manner. Stage 2 treatment will last for 6 months and will involve 4 visits to the clinic.

Subjects who complete both Stage 1 and Stage 2 of the study as scheduled may be offered the opportunity to participate in an open-label treatment extension phase with AT1001. The open-label treatment extension phase will last 12 months and will involve 2 visits to the clinic. A follow-up visit will be undertaken 1 month following completion or discontinuation from the open-label treatment extension. Subjects completing the 12 month open-label treatment extension and providing consent to enter a separate long term extension will not be required to complete this follow-up visit.

Study assessments will include clinical laboratory tests, 12-lead ECG, kidney biopsy, kidney function testing, echocardiography, and patient reported outcomes.

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 67 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary Purpose: Treatment
Official Title: A Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy, Safety and Pharmacodynamics of AT1001 in Patients With Fabry Disease and AT1001-Responsive GLA Mutations
Study Start Date : August 2009
Actual Primary Completion Date : July 2012
Actual Study Completion Date : January 2014

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Arm Intervention/treatment
Experimental: Galafold (AT1001) Oral Capsule
Migalastat HCl 150 mg capsule is taken every other day for 6 months and optional 6 month treatment extension
Drug: migalastat hydrochloride
oral capsule every other day
Other Names:
  • AT1001
  • Galafold
Placebo Comparator: Placebo Oral Capsule
Placebo capsule is taken every other day for 6 months.
Drug: Placebo
oral capsule every other day

Primary Outcome Measures :
  1. kidney GL-3 (assessed histologically in kidney biopsy samples) [ Time Frame: 6 months ]

Secondary Outcome Measures :
  1. urine GL-3 levels [ Time Frame: 6 months ]
  2. renal function (assessed by iohexol GFR, eGFR, and 24-hour urine protein) [ Time Frame: 6 months ]
  3. safety and tolerability [ Time Frame: 12 months ]

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years to 74 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  1. Male or female between the ages of 16 and 74 diagnosed with Fabry disease
  2. Confirmed GLA mutation that has been shown to be responsive to AT1001 in vitro
  3. Subject has never been treated with ERT or has not received ERT for 6 consecutive months or longer before the screening visit for the study
  4. Urine GL-3 greater than or equal to four times the upper limit of normal at Screening
  5. Subjects taking angiotensin converting enzyme inhibitors (ACEIs) or angiotensin receptor blockers (ARBs) must be on a stable dose for a minimum of 4 weeks before the baseline visit
  6. Women who can become pregnant and all men agree to be sexually abstinent or use medically accepted methods of birth control during the study and for 30 days after study completion
  7. Subject is willing and able to provide written informed consent, and assent if applicable

Exclusion Criteria:

  1. Subject has undergone or is scheduled to undergo kidney transplantation, or is currently on dialysis
  2. eGFR < 30 mL/min/1.73m2 (CKD Stage 4 or 5) based on MDRD equation
  3. QTc ≥ 450 msec for males or ≥ 470 msec for females at Screening NOTE: Protocol Amendment 2.1 eliminates Exclusion Criterion #3.
  4. Pregnant or breast-feeding
  5. History of allergy or sensitivity to study medication (including excipients) or other iminosugars (e.g., miglustat, miglitol)
  6. Subject is treated or has been treated with any investigational drug within 30 days of study start
  7. Subject is currently treated or has ever been treated with AT1001
  8. Any intercurrent condition or concomitant medication use considered to be an absolute contraindication to kidney biopsy or that may preclude accurate interpretation of study data
  9. Otherwise unsuitable for the study, in the opinion of the Investigator

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): NCT00925301

  Hide Study Locations
United States, California
Cedars-Sinai Medical Center
Los Angeles, California, United States, 90048
University of California School of Medicine
San Francisco, California, United States, 94143
United States, Colorado
University of Colorado Health Sciences Center
Aurora, Colorado, United States, 80045
United States, Georgia
Emory University
Decatur, Georgia, United States, 30033
United States, Illinois
Children's Memorial Hospital
Chicago, Illinois, United States, 60614
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66150
United States, Massachusetts
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
United States, Michigan
Infusion Associates
Grand Rapids, Michigan, United States, 49525
United States, New York
New York Presbyterian/Columbia University Medical Center
New York, New York, United States, 10032
United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45299
United States, Pennsylvania
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15213
United States, Texas
Baylor Research Institute
Dallas, Texas, United States, 75226
United States, Utah
University of Utah Medical Center
Salt Lake City, Utah, United States, 84132
United States, Virginia
O & O Alpan LLC
Springfield, Virginia, United States, 22152
United States, Washington
University of Washington
Seattle, Washington, United States, 98109
University of Austral
Buenos Aires, Argentina, B16641NZ
Hospital Britanico
Capital Federal, Argentina, C1280AEB
Women's and Children's Hospital
Adelaide, Australia, 5600
Royal Melbourne Hospital
Parkville, Australia, 3065
Universitair Ziekenhuis Antwerpen, Koningin Paola Kinderziekenhuis
Antwerpen, Belgium, 2020
Hospital de Clinicas de Porto Alegre
Porto Alegre, Brazil, 90035-003
Federal University of Sao Paolo
Sao Paulo, Brazil, 04020-041
Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto
Sao Paulo, Brazil, 14048-900
Canada, Ontario
University Health Network
Toronto, Ontario, Canada, M5G1X8
Canada, Quebec
Hopital du Sacre-Coeur de Montreal
Montreal, Quebec, Canada
Kobenhavn, Denmark, 2100
Cairo University Hospital - Al Kasr El Ainy
Giza, Egypt, 11451
Hôpital Raymond Poincaré
Garches, France
Universitaetsklinikum Wuerzburg
Wuerzburg, Germany, 97080
Policlinico Universitario Agostino Gemelli
Roma, Italy, 00168
Academisch Medisch Centrum
Amsterdam, Netherlands, 1105AZ
Instytut Kardiologii im. Kardynala Sr. Wyszynskiego
Warszawa, Poland, 04-628
South Africa
Morningside Clinic
Johannesburg, South Africa, 2021
Fundacio Puigvert
Barcelona, Spain, 08025
Hospital Universitario Miguel Servet
Zaragoza, Spain, 50009
Gazi University Hospital
Ankara, Turkey, 06500
United Kingdom
The Royal Free Hospital
London, United Kingdom, NW3 2QG
Hope Hospital, Salford Royal NHS Foundation Trust
Salford, United Kingdom, M6 8HD
Sponsors and Collaborators
Amicus Therapeutics
Study Director: Medical Monitor, Clinical Research Amicus Therapeutics

Publications automatically indexed to this study by Identifier (NCT Number):

Responsible Party: Amicus Therapeutics Identifier: NCT00925301     History of Changes
Other Study ID Numbers: AT1001-011
First Posted: June 22, 2009    Key Record Dates
Last Update Posted: May 2, 2016
Last Verified: March 2016

Keywords provided by Amicus Therapeutics:

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
Antiviral Agents
Anti-Infective Agents
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action