Ongoing Monitoring

Because of the progressive nature of Pompe disease, and the unpredictable nature of that progression, regular patient monitoring is of paramount importance to identify changes in clinical status and adjust the treatment and management plan accordingly.

Follow-Up Frequency

All affected infants, because of their rapid disease progression, must be closely and frequently monitored. In older patients with a slower rate of progression, a general guideline is to follow-up every 6 months.[1] It should be noted that the patient’s health care team may determine the actual frequency of necessary assessments according to individualized needs.

Take Note: Recommended Schedule of Assessments

The Pompe Registry has developed a recommended schedule of assessments, based on the input of physicians from the international medical community with expertise in the care of patients with Pompe disease.

Download the Pompe Registry’s schedule of assessments 

The standards of care guidelines published by the American College of Medical Genetics (ACMG) also contain useful information on patient monitoring.

Find out more about disease management guidelines 

Areas of Assessment

Below are summaries of the key areas most important for monitoring the manifestations and progression of Pompe disease. Many of the tests and assessments helpful in the initial diagnostic investigation continue to be valuable tools during ongoing management;[1-3]  for more details on these, visit the Recommended Assessments page.

General Patient Health

Among the basic physical examinations, monitoring weight is particularly important in patients of all ages.  Monitoring growth in infants and children is paramount since feeding difficulties often make maintaining a healthy weight a challenge.

There are also variety of recommended quality-of-life surveys and scales to help monitor disease progression as well as help assess patients’ mental and emotional well-being.

Cardiac

Cardiac monitoring is critical for infants with Pompe disease, as most of them die of cardiac failure by age of one year. Chest x-rays and ECG enables ongoing evaluation of the progression of cardiomyopathy 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[6]—even among those who have not been on artificial ventilation.[7] Respiratory insufficiency is not always easily recognized, so use of routine testing of pulmonary function, lung vital capacity, and diaphragmatic weakness is crucial even for patients without apparent signs, as an abrupt clinical decline can occur at any time.

Regular sleep studies can be helpful, since sleep-disordered breathing is often an early manifestation of respiratory symptoms that eventually progress further.

Musculoskeletal and Neurological

Regular musculoskeletal and neurological evaluations, including radiography, EMG, and motor milestone benchmarks, help track patients’ functional and motor skills as well as the disease progression. These are important tools in informing decisions about physical rehabilitation and other interventions.

Testing of low bone mineral density may also be indicated, low bone mineral has been seen in patients of a variety of ages.

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. Epub 2009 Jul 9.Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling. Eur J Hum Genet 1999 Sep; 7(6): 713-6.
  4. Van den Hout HMP. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatr 2003 Aug; 112 (2): 332-340.
  5. Kishnani PS, Hwu W-L, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006; 148:671-676.
  6. Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.
  7. 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.

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Schedule of Assessments

The Pompe Registry has developed a recommended schedule of assessments to help in the care and monitoring of patients with Pompe disease.

Download Schedule of Assessments

Pompe Registry

Find out about the Pompe Registry, an ongoing, observational database that tracks natural history and outcomes of patients with Pompe disease.

Learn More