Below are various professional medical organizations and relevant government resources for Pompe disease that work to support Pompe disease patients and their families and caregivers.
All information and resources provided by these organizations are operated and maintained by the entity listed below. Please note this list is meant to serve as a general reference and additional resources may also be available through other organizations. Sanofi Genzyme does not endorse any particular organization or the content and programs they offer.
American Academy of Neurology (AAN)
An international professional association of more than 21,000 neurologists and neuroscience professionals dedicated to providing the best possible care for patients with neurological disorders.
American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM)
A professional organization whose goal is to serve physicians who diagnose and treat patients with disorders of muscle and nerve, extend the knowledge of electrodiagnostic medicine, and improve the quality of patient care.
A registry of federally and privately supported clinical trials conducted in the United States and around the world, providing searchable Information about a trial's purpose, eligibility, locations, and other details.
Food and Drug Administration (FDA)
The United States agency responsible for reviewing and regulating drugs, biologics, and medical devices. The FDA's site is a clearinghouse of information for the public, including new product approvals and safety alerts.
Muscular Dystrophy Association (MDA)
A non-profit health organization dedicated to providing comprehensive medical services to individuals affected by neuromuscular diseases. Pompe disease is one of the more than 40 neuromuscular diseases covered by MDA.
If your patients are seeking further information and support, you can direct them to several organizations in the U.S. that are dedicated to helping patients and families living with Pompe disease.
To learn more about the Pompe Registry
LUMIZYME® (alglucosidase alfa) is a hydrolytic lysosomal glycogen-specific enzyme indicated for patients with Pompe disease (GAA deficiency).
WARNING: RISK OF ANAPHYLAXIS, HYPERSENSITIVITY AND IMMUNE-MEDIATED REACTIONS, AND RISK OF CARDIORESPIRATORY FAILURE
Anaphylaxis and Hypersensitivity Reactions: Life-threatening anaphylaxis and hypersensitivity reactions have been observed in some patients during and after treatment with alglucosidase alfa. If anaphylaxis or severe hypersensitivity reactions occur, immediately discontinue infusion and institute appropriate medical treatment. Appropriate medical support and monitoring measures should be available during infusion.
Immune-Mediated Reactions: Monitor patients for the development of systemic immune-mediated reactions involving skin and other organs. If immune-mediated reactions occur, consider discontinuation of the administration of alglucosidase alfa, and initiate appropriate medical treatment.
Risk of Acute Cardiorespiratory Failure: Patients with acute underlying respiratory illness or compromised cardiac and/or respiratory function may be at risk of serious exacerbation of their cardiac or respiratory compromise during infusions. Appropriate medical support and monitoring measures should be readily available during alglucosidase alfa infusion, and some patients may require prolonged observation times that should be individualized based on the needs of the patient.
Risk of Cardiac Arrhythmia and Sudden Cardiac Death during General Anesthesia for Central Venous Catheter Placement: Administration of general anesthesia can be complicated by the presence of severe cardiac and skeletal (including respiratory) muscle weakness. Therefore, caution should be used when administering general anesthesia. Ventricular arrhythmias and bradycardia, resulting in cardiac arrest or death, or requiring cardiac resuscitation or defibrillation have been observed in infantile-onset Pompe disease patients with cardiac hypertrophy during general anesthesia for central venous catheter placement.
Risk of Antibody Development: Patients with infantile-onset Pompe disease should have a cross-reactive immunologic material (CRIM) assessment early in their disease course and be managed by a clinical specialist knowledgeable in immune tolerance induction in Pompe disease to optimize treatment. CRIM status has been shown to be associated with immunogenicity and patients’ responses to enzyme replacement therapies. There is evidence to suggest that some patients who develop high and sustained IgG antibody titers, including CRIM-negative patients, may experience reduced clinical alglucosidase alfa treatment efficacy.
Monitoring: Laboratory Tests: Patients should be monitored for IgG antibody formation every 3 months for 2 years and then annually thereafter.
The most frequently reported adverse reactions (≥ 5%) in clinical trials were hypersensitivity reactions and included: anaphylaxis, rash, pyrexia, flushing/feeling hot, urticaria, headache, hyperhidrosis, nausea, cough, decreased oxygen saturation, tachycardia, tachypnea, chest discomfort, dizziness, muscle twitching, agitation, cyanosis, erythema, hypertension/increased blood pressure, pallor, rigors, tremor, vomiting, fatigue, and myalgia.
Please see the Full Prescribing Information for complete details, including boxed WARNING.