Guidelines and treatment

​Pompe disease is a condition for which treatment is available in many countries

The treatment is an enzyme replacement therapy (ERT) called alglucosidase alfa (Myozyme), manufactured by Sanofi Genzyme. Myozyme is indicated for long-term enzyme replacement therapy (ERT) in patients with a confirmed diagnosis of Pompe disease (acid alpha glucosidase deficiency). Myozyme is indicated in adults and paediatric patients of all  ages Myozyme Summary of Product Characteristics. .

For more information about Myozyme, please visit the EMA website to view the current SmPC [dated:18/12/2013]  European Medicines Agency or contact your local Sanofi Genzyme representative. 

Guidelines for management

Although the underlying basis of Pompe disease is progressive muscular degeneration, the disease can affect different organs and systems. Patient care and management of this multisystemic disorder are thus best handled by a multidisciplinary team of healthcare  providers Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. .

Multidisciplinary teams of specialist physicians in the USA have produced the following management guidelines, which have been approved by the American College of Medical Genetics ( ACMG Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. ) and the American Association of Neuromuscular & Electrodiagnostic Medicine ( AANEM Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT. AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319-33. ):

Ongoing monitoring

The progressive nature of Pompe disease, together with the unpredictable nature of that progression, means that regular patient monitoring is of paramount importance. Changes in a patient’s clinical status can then be identified without delay and their treatment/management plan adjusted accordingly.

Follow-up frequency

All infants with Pompe disease must be monitored closely and frequently, given the rapid progression in this patient group. In older patients with a slower rate of progression, a general guideline is to follow-up every 6−12  months Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT. AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319-33. . A patient’s healthcare team will determine the exact nature and frequency of assessments according to individual clinical needs.

Pompe Registry assessment schedule 

The Pompe Registry has developed a recommended schedule of assessments, based on input from international specialists with expertise in the care of patients with Pompe disease: 

Areas of assessment

Key assessment areas when monitoring the manifestations and progression of Pompe disease  are Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT. AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319-33. Hirschhorn R, Reuser AJ. Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G., eds. The Online Metabolic and Molecular Bases of Inherited Disease. OMMBID. Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol 2006; 252:875-84. :

General health

Monitoring weight is important for all patients with Pompe disease. In infants, for example, this importance stems from the feeding difficulties that can make maintaining a healthy weight challenging. There are also a variety of recommended quality-of-life surveys and scales for patients, to help monitor disease progression and assess mental and emotional well-being.

Cardiac

Cardiac monitoring is critical for infants with Pompe disease, as most die from cardiac failure by age of 1 year without treatment. Chest x-rays and ECGs enable ongoing evaluation of cardiomyopathy progression, to guide treatment decisions. In severe cases, 24-hour ambulatory ECG may be useful to monitor increased risk of arrhythmia and sudden death.

Respiratory

Respiratory failure is the most common cause of death among children and adults with Pompe  disease Hirschhorn R, Reuser AJ. Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G., eds. The Online Metabolic and Molecular Bases of Inherited Disease. OMMBID. , even among those who have not been on artificial  ventilation Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol 2006; 252:875-84 . Respiratory insufficiency is not always easily recognized, so use of routine testing of pulmonary function (including lung vital capacity and diaphragmatic strength) is crucial, even for patients without apparent signs, as an abrupt clinical decline can occur at any time. Detailed sleep history obtained at diagnosis and at follow-up visits can be helpful too, as sleep-disordered breathing is often an early manifestation of respiratory  symptoms Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. .

Musculoskeletal and neurological

Musculoskeletal and neurological evaluations, including radiography, electromyography (EMG) and motor milestone benchmarks, help to evaluate and track patients’ functional and motor skills, as well as disease  progression Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:267-88. . These are important tools for informing decisions about physical rehabilitation and other interventions. Testing for low bone mineral density may also be indicated, as this has been seen in patients of various ages.