In addition to Lumizyme® (alglucosidase alfa) therapy, management of Pompe disease usually involves supportive therapies focused on each patient's individual symptoms. Because patients with the disease can have a wide range of clinical manifestations and functional impairment, they are best followed by a multidisciplinary team headed by a physician with experience treating Pompe disease or similar disorders.1-3
Comprehensive patient management includes a comprehensive, multidisciplinary approach of evaluation, intervention, monitoring, and support from a variety of specialists, which may include neuromuscular specialists, metabolic specialists, pulmonologists, cardiologists, physical therapists, speech therapists, and dieticians.1
The American College of Medical Genetics (ACMG) has published the following standard-of-care guidelines on Pompe disease. Developed by an international team of multi-disciplinary experts in various aspects of the disease, these guidelines aim to facilitate prompt diagnosis and timely, individualized treatment plans:1
(The complete guidelines are available at the PubMed website; note that fees may apply.)
The progressive, unpredictable nature of Pompe disease necessitates regular patient monitoring in order to follow the individual patient's disease course, measure changes, and make appropriate, proactive management decisions.
Because Pompe disease is multi-systemic, physicians should consider numerous assessments in the management of their patients. These may include:
Physicians should determine the actual frequency of necessary assessments according to a patient's individualized need for medical care and routine follow-up at the site/practice. However, a Recommended Schedule of Assessments has been developed based on the input of physicians from the international medical community with expertise in the care of patients with Pompe disease, as well as regulatory authorities in the U.S. and Europe:
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.