Trial Opens of 'Pharmacological Chaperone' in Pompe Disease

Enrollment is open for a trial of AT2220, a drug designed to enhance the effects of enzyme replacement therapy in people with acid maltase deficiency

Article Highlights:
  • On June 26, 2012, Amicus Therapeutics reported encouraging preliminary results from this trial, which remains open.
  • In early 2012, MDA began supporting a different study of AT2220 through Eric Sjoberg at Amicus.
  • Amicus Therapeutics is testing the small-molecule drug AT2220 in a phase 2 clinical trial in Pompe disease (acid maltase deficiency).
  • AT2220 is designed to be co-administered with the enzyme replacement therapies Myozyme or Lumizyme.
  • The trial will enroll 16 people who currently are receiving enzyme replacement therapy.
by Amy Madsen on December 19, 2011 - 1:10pm

Update (June 27, 2012): Amicus Therapeutics announced June 26, 2012, that preliminary results are encouraging from this phase 2 trial of AT2220 with enzyme replacement therapy for Pompe disease. For details, see the company's press release. The trial remains open. In early 2012, MDA began supporting Eric Sjoberg at Amicus to study whether or not AT2220 can mitigate the immune response sometimes associated with enzyme replacement therapy in Pompe disease.

Trial Opens of 'Pharmacological Chaperone' in Pompe Disease, initially posted Dec. 19, 2011

The biopharmaceutical company Amicus Therapeutics is testing its experimental drug AT2220 in combination with enzyme replacement therapy in people with Pompe deficiency (acid maltase disease, or AMD).

Enzyme replacement therapies (ERT) for Pompe disease are Myozyme (for infants) and Lumizyme (for late-onset Pompe), both of which work by replacing the acid maltase enzyme deficient in people with the disease.

AT2220 is a small-molecule pharmacological chaperone, a type of drug that modifies the effects of a protein. In this case, the chaperone is designed to enhance the effects of ERT.

It’s hoped that AT2220 will prevent a loss of activity of ERT in the bloodstream, increase the uptake of the replacement enzyme by tissues and improve the ability of the enzyme to do its job.

About the trial

The phase 2 trial is designed to determine whether AT2220 is safe when co-administered with ERT. Investigators also will study AT2220’s pharmacokinetic profile (the effects the body has on the drug).

Approximately 16 trial participants will be divided into four groups; each group will be assigned one of four dose levels of AT2220.

Participants will receive a single oral dose of AT2220 one hour prior to a regularly scheduled ERT infusion. During the infusion, study investigators will monitor enzyme levels and activity in the blood.

Muscle biopsies will be performed seven days after each infusion so that measurements can be made of ERT activity and levels of AT2220 in the tissue. (Biopsies will be obtained by the core-needle biopsy method, a less invasive procedure than an open-muscle biopsy.)

Amicus announced Dec. 1, 2011, that the trial had commenced with "the initial infusion of the first subject."

Enrollment for the trial is ongoing. Prospective participants must have a definitive diagnosis of Pompe disease, have been on a stable ERT regimen for at least three months prior to enrollment and meet other trial criteria.

Study sites are located in Arizona, California, Florida, Georgia, Kansas, Montana, North Carolina, Ohio and Virginia as well as in Canada, France and the United Kingdom. 

To participate in the AT2220 trial (AT2220-Study 010)

For details and contact information visit, or see Drug-Drug Interaction Study. You also can enter NCT1380743 into the search box at, call the patient hotline at 855-POMPE-33 (855-766-7333), or email inquiries to

About Clinical Trials

About clinical trials

A clinical trial is a test, in humans, of an experimental treatment. Although it's possible that benefit may be derived from participating in a clinical trial, it's also possible that no benefit, or even harm, may occur.

MDA has no ability to influence who is chosen to participate in a clinical trial.

To learn more, see Understanding Clinical Trials and Being a Co-Adventurer, which is about neuromuscular disease clinical trials. To see a continuously updated database of clinical trials, go to

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