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

Pompe disease, Bone & Muscle
Tahseen Mozaffar, MD
UC Irvine ALS and Neuromuscular Center, 200 South Manchester Avenue, Ste. 110, Orange CA 92868 (Manchester Pavilion)
To evaluate if a new drug is safe in patients with Pompe disease.


The following criteria must be met for a subject to be considered eligible for the study:\

  • Are male or female, 18 to 74 years of age at time of consent
  • Have a genetically confirmed diagnosis of Pompe disease
  • Have never taken Enzyme replacement therapy (ERT) (Myozyme) or have discontinued ERT for at least 3 months prior to entry of study
  • Are willing not to start ERT throughout the duration of the study
  • Have significant and disabling muscle weakness and evidence of moderate to severe respiratory insufficiency.
  • Are a woman of childbearing potential who agrees to use reliable methods of contraception during the study
  • Are willing and able to provide written informed consent


A subject presenting with any of the following will be excluded from the study:

  • Have an obstructive pulmonary disease
  • Are on a respirator (mechanical ventilator) or use noninvasive ventilatory support (BiPAP or VPAP) more than 8 hours a day while awake
  • Have a history of significant and symptomatic problem affecting heart rhythm
  • Have a history of allergy or sensitivity to the study drug, including any prior serious adverse reaction to iminosugars (e.g., miglustat, miglitol)
  • If you are a woman of childbearing potential who is not using effective birth control or women who is pregnant or breast feeding
  • If you have substance abuse problems (drug or alcohol) within 12 months of screening
  • Have been treated with another investigational drug within 30 days of study start
  • Have used any of the exclusionary medications within 3 months of screening
  • Have any other condition or therapy that in the investigator's opinion may pose a risk to you, or prevent you from completing the required study procedures, or interfere with the study objectives

Study participation will involve 7 visits over the next 16 weeks.
This study is unlikely to directly benefit you. However, we hope that the knowledge gained about this genetic disorder will be of benefit to the society or other patients with Pompe disease in the future.
Free parking; travel reimbursement will also be provided for subjects traveling more than 100 miles for this study (round trip).
Veronica Martin