Disease Management

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

Chart

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

Management Guidelines

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 aim to facilitate prompt diagnosis and timely, individualized treatment plans:1

  • Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-288.

(The complete guidelines are available at the PubMed website; note that fees may apply.)

Ongoing Assessments

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:

  • Musculoskeletal assessments, including tests of muscle strength and function, motor control, gait, and others
  • Pulmonary assessments, including airflow, lung capacity, respiratory muscle function, and others
  • Cardiac assessments such as chest x-rays, ECHO, ECG, and arrhythmia monitoring
  • Gastrointestinal assessments, including weight gain and growth, swallowing difficulties, and other related issues
  • Quality of Life tests to assess disability, fatigue, pain, and participation in daily activities

Recommended Schedule of Assessments

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:

INDICATION

LUMIZYME® (alglucosidase alfa) is a hydrolytic lysosomal glycogen-specific enzyme indicated for patients with Pompe disease (GAA deficiency).

IMPORTANT SAFETY INFORMATION

WARNING: RISK OF ANAPHYLAXIS, HYPERSENSITIVITY AND IMMUNE-MEDIATED REACTIONS, and RISK OF CARDIORESPIRATORY FAILURE
  • Life-threatening anaphylactic reactions and severe hypersensitivity reactions, presenting as respiratory distress, hypoxia, apnea, dyspnea, bradycardia, tachycardia, bronchospasm, throat tightness, hypotension, angioedema (including tongue or lip swelling, periorbital edema, and face edema), and urticaria, have occurred in some patients during and after alglucosidase alfa infusions. Immune-mediated reactions presenting as proteinuria, nephrotic syndrome, and necrotizing skin lesions have occurred in some patients following alglucosidase alfa treatment. Closely observe patients during and after alglucosidase alfa administration and be prepared to manage anaphylaxis and hypersensitivity reactions. Inform patients of the signs and symptoms of anaphylaxis, hypersensitivity reactions, and immune-mediated-reactions and have them seek immediate medical care should signs and symptoms occur.
  • Infantile-onset Pompe disease patients with compromised cardiac or respiratory function may be at risk of serious acute exacerbation of their cardiac or respiratory compromise due to fluid overload, and require additional monitoring.

WARNINGS AND PRECAUTIONS

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 immunemediated reactions involving skin and other organs.

Risk of Acute Cardiorespiratory Failure: Patients with acute underlying respiratory illness and compromised cardiac and/or respiratory function may be at risk of acute cardiorespiratory failure. Caution should be exercised when administering alglucosidase alfa to patients susceptible to fluid volume overload. Appropriate medical support and monitoring measures should be available during infusion and some patients may require longer observation times.

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 alglucosidase alfa infusion.

Risk of Antibody Development: As with all therapeutic proteins, there is potential for immunogenicity. There is some evidence to suggest that some patients who develop high and sustained IgG antibody titers may experience reduced clinical efficacy. Patients should be monitored for IgG antibody formation every 3 months for 2 years and then annually thereafter.

ADVERSE REACTIONS

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.

USE IN SPECIFIC POPULATIONS

Pregnancy: Based on animal data, alglucosidase alfa may cause fetal harm.

Please see the Full Prescribing Information, for complete details, including boxed WARNING

References

  1. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-88.
  2. Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology. 2008;71(23 Suppl 2):S4-11.
  3. Oba-Shinjo S, da Silva R, Andrade F, et al. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. J Neurol 2009;256(11):1881-90

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