Study to Evaluate the Safety of AT2220 in Pompe 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: NCT00688597
Recruitment Status : Terminated
First Posted : June 3, 2008
Last Update Posted : May 19, 2011
Information provided by:
Amicus Therapeutics

Brief Summary:
The main purpose of this study is to determine the safety and tolerability of three different doses of AT2220 in people affected by Pompe disease. The study will also evaluate the effects of AT2220 on functional parameters in Pompe disease.

Condition or disease Intervention/treatment Phase
Pompe Disease Drug: AT2220 Phase 2

Detailed Description:
Subjects meeting all eligibility criteria will undergo physical examination, electrocardiogram (ECG), spirometry, muscular strength test, functional muscle test, 6-minute walk test (6MWT) (when appropriate), laboratory tests, MRI and muscle (needle) biopsy. Quality of life will be assessed via SF-36 questionnaire. Functional ability and level of handicap will be assessed by Rotterdam handicap scale.

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 3 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Open-Label, Multicenter, Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of Three Dosing Regimens of Oral AT2220 in Patients With Pompe Disease
Study Start Date : November 2008
Actual Primary Completion Date : November 2009
Actual Study Completion Date : November 2009

Arm Intervention/treatment
Experimental: Cohort 1
AT2220 low dose, regimen 1, for 11 weeks
Drug: AT2220

low dose regimen 1

powder in a bottle for dissolution in water for oral administration

Experimental: Cohort 2
AT2220 high dose, regimen 1, for 11 weeks
Drug: AT2220
high dose, regimen 1

Experimental: Cohort 3
AT2220 high dose, regimen 2, for 11 weeks
Drug: AT2220
high dose, regimen 2

Primary Outcome Measures :
  1. Treatment-emergent Adverse Events [ Time Frame: 11 weeks ]

Secondary Outcome Measures :
  1. Change in functional parameters from Baseline to End of Study [ Time Frame: 11 weeks ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 74 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  1. Male or female, 18 to 74 years of age inclusive
  2. Diagnosis of Pompe disease based on clinical assessment, enzyme assay, and/or genotyping. Confirmatory genotyping will be performed on all subjects who are screened for the study.
  3. Naïve to ERT or has not received ERT in the 3 months prior to screening
  4. Willing not to initiate ERT or other prohibited treatment during study participation
  5. Functional grade for arms and/or legs ≥2 OR sitting FVC ≥30% and <80% of predicted value, reproducible between visits 1 and 2 (± 15%)
  6. Subjects of reproductive potential agree to use reliable methods of contraception during the study
  7. Subject or legal representative is willing and able to provide written informed consent

Exclusion Criteria:

  1. Any intercurrent condition that may preclude accurate interpretation of study data
  2. Obstructive pulmonary disease
  3. Invasive ventilatory support
  4. Use of noninvasive ventilatory support >8 hours/day while awake
  5. History of QTc prolongation >450 msec for males and >470 msec for females
  6. History of allergy or sensitivity to the study drug, including any prior serious adverse reaction to iminosugars (e.g., miglustat, miglitol)
  7. Pregnancy or breast-feeding
  8. Current or recent drug or alcohol abuse
  9. Treatment with another investigational drug within 30 days of study start
  10. Use of prohibited medications ≤3 months prior to screening
  11. Otherwise unsuitable for the study in the opinion of 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): NCT00688597

  Show 20 Study Locations
Sponsors and Collaborators
Amicus Therapeutics
Study Director: Mathews Adera, MD Amicus Therapeutics

Responsible Party: Mathews Adera, MD, Medical Director, Clinical Research, Amicus Therapeutics Identifier: NCT00688597     History of Changes
Other Study ID Numbers: POM-CL-201
First Posted: June 3, 2008    Key Record Dates
Last Update Posted: May 19, 2011
Last Verified: May 2011

Keywords provided by Amicus Therapeutics:
Pompe Disease

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors