Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease

This study has been completed.
Information provided by (Responsible Party):
Amicus Therapeutics Identifier:
First received: June 19, 2009
Last updated: March 20, 2014
Last verified: March 2014

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

Condition Intervention Phase
Fabry Disease
Drug: migalastat hydrochloride
Drug: Placebo
Phase 3

Study Type: Interventional
Study Design: Allocation: Randomized
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Parallel Assignment
Masking: Double Blind (Subject, Caregiver, 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

Resource links provided by NLM:

Further study details as provided by Amicus Therapeutics:

Primary Outcome Measures:
  • kidney GL-3 (assessed histologically in kidney biopsy samples) [ Time Frame: 6 months ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • urine GL-3 levels [ Time Frame: 6 months ] [ Designated as safety issue: No ]
  • renal function (assessed by iohexol GFR, eGFR, and 24-hour urine protein) [ Time Frame: 6 months ] [ Designated as safety issue: No ]
  • safety and tolerability [ Time Frame: 12 months ] [ Designated as safety issue: Yes ]

Enrollment: 67
Study Start Date: August 2009
Study Completion Date: January 2014
Primary Completion Date: July 2012 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: AT1001 Oral Capsule
Drug: migalastat hydrochloride
oral capsule every other day
Other Name: AT1001
Placebo Comparator: Placebo Oral Capsule
Drug: Placebo
oral capsule every other day
Other Name: Placebo

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 a an open-label treatment extension phase with AT1001. The open-label treatment extension phase will last 13 months and will involve 3 visits to the clinic.

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


Ages Eligible for Study:   16 Years to 74 Years
Genders Eligible for Study:   Both
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
  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: NCT00925301

  Show 38 Study Locations
Sponsors and Collaborators
Amicus Therapeutics
Study Director: Medical Monitor, Clinical Research Amicus Therapeutics
  More Information

No publications provided

Responsible Party: Amicus Therapeutics Identifier: NCT00925301     History of Changes
Other Study ID Numbers: AT1001-011
Study First Received: June 19, 2009
Last Updated: March 20, 2014
Health Authority: United States: Food and Drug Administration

Keywords provided by Amicus Therapeutics:
Fabry Disease
Lysosomal Storage Disorders

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Fabry Disease
Brain Diseases
Brain Diseases, Metabolic
Cardiovascular Diseases
Central Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Vascular Diseases processed this record on March 30, 2015