Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiencyof a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA isused by the body's cells to break down glycogen (a stored form of sugar) withinspecialized structures called lysosomes. In patients with Pompe disease, an excessiveamount of glycogen accumulates and is stored in various tissues, especially heart andskeletal muscle, which prevents their normal function. The objective of this expandedaccess study is to provide patients with Pompe disease in the United States (US), accessto alglucosidase alfa produced from a scaled up manufacturing process for a limited timeuntil production at this scale is approved for commercial use by the Food and DrugAdministration.
Biological: alglucosidase alfa (recombinant human acid alpha-glucosidase [rhGAA])
IV infusion: 20mg/kg qow
Other Name: Alglucosidase alfa
Inclusion Criteria:
- The patient or patient's legal guardian must provide signed, informed consent prior
to performing any study-related procedures.
- The patient must reside in the US.
- The patient must have a confirmed diagnosis of Pompe disease defined as documented
acid alpha-glucosidase (GAA) enzyme deficiency from any tissue source and/or GAA
gene mutations.
- The patient must have/had documented clinical signs and symptoms of Pompe disease.
- The patient must have/had prior treatment with alglucosidase alfa produced at
commercial scale OR be naive to enzyme replacement therapy (ERT) for the treatment
of Pompe disease and meet at least 1 of the following criteria: require a wheelchair
OR require some respiratory assistance for any number of hours (including night
time) through non-invasive ventilation.
- The patient must be capable of complying with the required program schedule of
assessments.
Exclusion Criteria:
- Females who are pregnant or lactating
- The patient has a clinical condition unrelated to Pompe disease that would interfere
with program assessments.
- The patient is currently enrolled in any clinical studies.
Sheffield, Alabama, United States
Anchorage, Alaska, United States
Phoenix, Arizona, United States
Prescott, Arizona, United States
Scottsdale, Arizona, United States
Tucson, Arizona, United States
Bakersfield, California, United States
Beverly Hills, California, United States
Loma Linda, California, United States
Los Angeles, California, United States
Sacramento, California, United States
San Diego, California, United States
Stanford, California, United States
Aurora, Colorado, United States
Washington, District of Columbia, United States
Bradenton, Florida, United States
Coral Springs, Florida, United States
Daytona Beach, Florida, United States
Gainsville, Florida, United States
St. Petersburg, Florida, United States
Decatur, Georgia, United States
Boise, Idaho, United States
Chicago, Illinois, United States
Evansville, Indiana, United States
Iowa City, Iowa, United States
Kansas City, Kansas, United States
Louisville, Kentucky, United States
New Orleans, Louisiana, United States
Shreveport, Louisiana, United States
Augusta, Maine, United States
Baltimore, Maryland, United States
Boston, Massachusetts, United States
Springfield, Massachusetts, United States
Detroit, Michigan, United States
Grand Rapids, Michigan, United States
Lake Orion, Michigan, United States
Rochester Hills, Michigan, United States
St. Joseph, Michigan, United States
Minneapolis, Minnesota, United States
Missoula, Montana, United States
Omaha, Nebraska, United States
Midland Park, New Jersey, United States
Albuquerque, New Mexico, United States
Albany, New York, United States
Corning, New York, United States
Manhasset, New York, United States
New York, New York, United States
Asheville, North Carolina, United States
Durham, North Carolina, United States
Jacksonville, North Carolina, United States
Cincinnati, Ohio, United States
Cleveland, Ohio, United States
Greenville, Ohio, United States
Toledo, Ohio, United States
Oklahoma City, Oklahoma, United States
Tulsa, Oklahoma, United States
Portland, Oregon, United States
Philadelphia, Pennsylvania, United States
Pittsburgh, Pennsylvania, United States
Greenville, South Carolina, United States
West Colombia, South Carolina, United States
Houston, Texas, United States
San Antonio, Texas, United States
Waco, Texas, United States
Salt Lake City, Utah, United States
Charlottesville, Virginia, United States
Chesapeake, Virginia, United States
Newport News, Virginia, United States
Richmond, Virginia, United States
Winchester, Virginia, United States
Pullman, Washington, United States
Seattle, Washington, United States
Morgantown, West Virginia, United States
Green Bay, Wisconsin, United States
Medical Monitor, Study Director
Genzyme, a Sanofi Company