About the Disease
Historically known as Niemann-Pick disease types A, A/B and B, Acid Sphingomyelinase Deficiency (ASMD) is an extremely rare, progressive genetic disease. It is estimated that there are fewer than 120 patients in the U.S. diagnosed with ASMD; the majority are children.
ASMD is caused by the lack of an enzyme needed to break down a complex lipid, called sphingomyelin, in cells. This can lead to a buildup of sphingomyelin in the liver, spleen, lungs, and brain. Signs and symptoms of ASMD can appear in infancy, childhood, or adulthood, and may include enlarged spleen or liver, breathing issues, lung infections, unusual bruising or bleeding due to low platelet count, as well as pain, vomiting, feeding difficulties and falls caused by an enlarged abdomen. The most severely affected patients have profound neurologic symptoms and rarely survive beyond two to three years of age. Other patients may survive into adulthood but die prematurely from respiratory failure.
Management of ASMD has been limited to addressing the impact of individual symptoms and careful monitoring to detect potential disease complications. Recently approved enzyme replacement therapy provides the missing or deficient ASM enzyme, helping to reduce the buildup of sphingomyelin in cells.
About our Patient Care
Our dedicated Care Team will work with the physician's office and insurance on a patient's behalf to give our patients 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. In addition, Orsini is one of the specialty pharmacies selected to provide patients with access to an FDA-approved, intravenous infusion enzyme replacement therapy.
As part of treatment, we provide:
Dedicated Care Team
We provide prescribers and patients with a dedicated Care Team, including 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. 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 manage the coordination of care between prescribers, sites of care and patients to ensure dispenses and drug delivery align with the date and location of service.
We successfully identify and assist in enrolling patients into manufacturer co-pay and foundation support programs to minimize a potential financial burden to patients given the high cost of specialty medications.
24/7/365 Access to a Pharmacist
We provide prescribers and patients access to a pharmacist 24/7/365 to ensure patients always have access to the care they need.
Click on the specialty drug name below to expand and see more information.