Pompe Disease | Glycogen Storage Disease

About the Disease

Pompe disease is an inherited disorder caused by the buildup of glycogen, a complex sugar, in the body's cells, which impairs the ability for affected organs, tissues, and muscles to function normally.

Several different clinical types of Pompe disease have been identified.

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 and 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 1 and is characterized by delayed motor skills and progressive muscle weakness. The heart may be abnormally large, but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.

Late-onset

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.

About our Patient Care

Our dedicated Care Team will work with the physician's office and insurance on a patient's behalf so that our patients have more time to focus on their treatment and quality of life. We are here to listen, provide

counseling on treatment, including side-effect management, and assist with sourcing third-party financial assistance.

As part of treatment, we provide:

Dedicated Care Team

We provide prescribers and patients with a dedicated care team for each of our disease state programs. This includes a primary pharmacy contact, clinical education, side-effects management, scheduled refill calls, and a direct phone, fax and email address.

In-Home Patient- and Family-Centric Care

We administer a nationwide nursing network, allowing patients to pursue in-home treatment or receive training on self-administrated drugs. Our nurses are ideally positioned to establish a partnership with patients and their families in order to provide clinical education and coaching that strengthen the patient's capacity to achieve therapy goals.

Shipping and Coordination of Care

We provide free overnight delivery of medications and necessary medical supplies and manage the coordination of care between prescribers, sites of care, nurses and patients to ensure dispenses and drug delivery align with the date and location of service.

Financial Assistance

We successfully identify and assist enrolling patients into any and all manufacturer co-pay and foundation support programs in order to minimize a potential financial burden to patients given the high-cost of specialty medications.