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Trial record 15 of 92 for:    Pompe

Study to Evaluate the Safety of AT2220 in Pompe Disease

This study has been terminated.
Information provided by:
Amicus Therapeutics Identifier:
First received: May 30, 2008
Last updated: May 16, 2011
Last verified: May 2011
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 Intervention Phase
Pompe Disease Drug: AT2220 Phase 2

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:

Further study details as provided by Amicus Therapeutics:

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

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

Enrollment: 3
Study Start Date: November 2008
Study Completion Date: November 2009
Primary Completion Date: November 2009 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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

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.

Ages Eligible for Study:   18 Years to 74 Years   (Adult, Senior)
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
  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: NCT00688597

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

Responsible Party: Mathews Adera, MD, Medical Director, Clinical Research, Amicus Therapeutics Identifier: NCT00688597     History of Changes
Other Study ID Numbers: POM-CL-201
Study First Received: May 30, 2008
Last Updated: May 16, 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
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases processed this record on September 20, 2017