Managing Pompe disease usually involves a variety of supportive care to address a patient's specific symptoms. Because the disease can cause a wide range of symptoms, patients are best followed by a team of physicians across different medical areas, led by a care coordinator with experience treating Pompe disease or similar disorders.
Depending on your particular symptoms and experiences, your multidisciplinary care team may include several different specialist healthcare providers, such as neuromuscular specialists, metabolic specialists, pulmonologists, cardiologists, physical therapists, speech therapists, and dieticians. As a patient, it is important to communicate with all the specialists involved in your medical care. You can also play a role in encouraging these specialists to communicate amongst themselves and regularly with the physician leading your care.
Pompe disease is a multi-system disorder, meaning that it can affect many of the body's systems and organs. The effects of Pompe disease vary widely from person to person, and because of the disorder's progressive and unpredictable nature, regular patient monitoring is important to:
Doctors may perform a variety of assessments, or follow-up tests, on a regular basis to monitor how Pompe disease is affecting a particular patient. For patients with Pompe disease, a general guideline of check-ups every 6 months is usually recommended. The Pompe Registry, a program sponsored by Sanofi Genzyme that tracks information about patients in order to improve understanding of Pompe disease, has developed a schedule of assessments to help guide doctors in monitoring patients. However, your doctor will determine exactly which tests, and at what frequency, are appropriate to monitor your health on ongoing basis.
To learn more about the Pompe Registry,
LUMIZYME® (alglucosidase alfa) is an enzyme replacement therapy for patients with Pompe disease (acid α-glucosidase (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 such a reaction is severe enough, your doctor may decide to immediately discontinue the infusion and provide you with immediate medical care. Appropriate medical support and monitoring measures should be available during infusion.
Immune-Mediated Reactions: You or your child may be monitored for the development of systemic immune-mediated reactions while receiving Lumizyme. If these reactions occur, your doctor may discontinue the infusion and initiate appropriate medical treatment.
Risk of Acute Cardiorespiratory Failure: Infant Pompe patients with heart or breathing problems who are experiencing an acute respiratory condition may be at risk for increasing the seriousness of these problems as a result of Lumizyme administration due to the infusion fluid, and your child’s doctor may require additional monitoring for these infants.
Risk of Cardiac Arrhythmia and Sudden Cardiac Death during General Anesthesia for Central Venous Catheter Placement: Caution should be used when administering general anesthesia for the placement of a central venous catheter intended for Lumizyme infusion. Ventricular arrhythmias and slow heart rate resulting in cardiac arrest or death have been observed in infant Pompe patients with cardiac hypertrophy during general anesthesia for central venous catheter placement. Appropriate medical support and monitoring measures should be available during infusion.
Risk of Antibody Development: Patients with infantile-onset Pompe disease (IOPD) should be managed by a clinical specialist knowledgeable in immune tolerance induction in Pompe disease to optimize treatment. Some patients who develop high and sustained IgG antibody levels, including certain IOPD patients, may have a reduced response to Lumizyme.
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 during Lumizyme studies in patients were allergy reactions and included: anaphylaxis, rash, fever, flushing/feeling hot, hives, headache, excessive sweating, nausea, cough, less oxygen in the blood, fast heart rate, rapid breathing, chest discomfort, dizziness, muscle twitching, agitation, bluish or purple skin, redness of skin, high blood pressure/increased blood pressure, facial paleness, chills, tremor, vomiting, fatigue, and muscle pain.
Please see the Full Prescribing Information for complete details, including boxed WARNING.