Pompe disease is estimated at 1 in every 40,000 births. It is a rare, inherited disorder caused by the buildup of a complex sugar called glycogen and mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). Typically, the body uses GAA to break down glycogen, a stored form of sugar used for energy. In Pompe disease, mutations in the GAA gene reduce or eliminate this enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the heart and skeletal muscle cells are the most seriously affected.
Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity, including:
Classic form, infantile-onset
The classic form of Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness, poor muscle tone, an enlarged liver, and heart defects. Affected infants may also fail to gain weight, grow at the expected rate, and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.
Non-classic form, infantile-onset
The non-classic form of Pompe disease usually appears by age one and is characterized by delayed motor skills and progressive muscle weakness. The heart may be abnormally large, but affected individuals typically do not experience heart failure. The muscle weakness in this disorder leads to severe breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.
The late-onset form of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood and is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with this type experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
When choosing a specialty pharmacy to support patients with Pompe disease, it's essential to consider a team experienced in rare diseases, ready to listen, provide counseling on treatment, help with side-effect management, and assist with sourcing third-party financial assistance.
As part of your Pompe disease patient's treatment, Orsini Specialty Pharmacy provides the following:
Access to Pompe Disease Medications: Choose a specialty pharmacy with access to Pompe disease medications. Orsini Specialty Pharmacy has access to Lumizyme® (alglucosidase alfa) and Nexviazyme® (avalglucosidase alfa-ngpt).
Pompe Disease Care Team: Patients need an experienced care team who can provide information and support throughout their journey. The Pompe Disease Care Team includes a primary contact, clinical education, side-effects management, scheduled refill calls, and a direct phone, fax, and email address.
Shipping & Coordination of Care: Patients receive free priority overnight delivery of medications and necessary medical supplies. Orsini manages care coordination between prescribers, care sites, and patients.
Financial Assistance: Medications can be costly, and many patients cannot afford the co-pays associated with their health insurance. Orsini helps identify and assist in enrolling patients into manufacturer co-pay and foundation support programs.
24/7/365 Access to a Pharmacist: Choose a specialty pharmacy that can provide access to a pharmacist 24/7/365 to ensure patients always receive care when they need it.
If you are a prescriber or physician's office representative, click here to access Pompe disease enrollment forms. In addition, you can always connect with your Orsini rep to schedule a call and answer any questions. If you are a prospective patient, click here to start your patient enrollment form.
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