Ongoing Monitoring

Patients with Pompe disease should be closely followed to monitor overall health status, disease progression and treatment effectiveness.

Guidelinesrecommend all patients undertake a bi-annual clinical review of development, clinical status, growth, and respiratory status (cough, difficulty breathing, wheezing, fatigability, and exercise tolerance). In addition, the following is recommended:

Annual
  • Pulmonary function tests
  • Renal function tests
  • Cardiology assessment (this should be carried out on an as-needed basis for patients with infantile-onset Pompe disease)
  • Hearing evaluation
Periodic
  • Chest x-rays
  • Echocardiography
  • 24-hour ambulatory electrocardiogram (baseline and regular intervals)
  • Sleep evaluation (including capnography and pulse oximetry)
  • Nutritional and feeding assessment

In addition to the above, overall musculoskeletal and functional status should be routinely monitored to aid therapeutic decision-making regarding the prevention or minimization of physical impairment and related complications.1

Within Australia, patients receiving treatment under the Life Saving Drugs Program (LSDP) need to meet annual eligibility requirements to qualify for ongoing treatment. Specific measures are as follows:

Diease type overview

Disease type Data required
Infantile-onset Pompe disease
  • Height and weight (including percentile)
  • BMI (including percentile)
  • Head circumference (including percentile)
  • Urine Tetrasaccharide (Glc 4)
  • Sleep study data
  • Ventillatory Support (degree) if applicable
  • Chest X ray
  • Echocardiogram (include NYHA functional class)
  • Electrocardiography
  • Paediatric cardiology assessment
  • Psychometric testing
  • Developmental testing
  • Gross motor function measure
  • Swallowing assessment
  • Audiology
  • Full neurological assessment
  • Blood tests (haemoglobin, platelets, creatinine kinase, alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase)
  • Antibody levels
Juvenile late-onset Pompe disease
  • Height and weight (including percentile)
  • Urine Tetrasaccharide (Glc 4)
  • Ventillatory Support (degree) if applicable
  • 6-Minute Walk Test (6MWT) Distance (m)
  • Forced Vital Capacity (FVC)
  • % of Predicted Forced Vital Capacity
Adult late-onset Pompe disease
  • Ventillatory Support (degree) if applicable
  • 6-Minute Walk Test (6MWT) Distance (m)
  • Forced Vital Capacity (FVC)
  • % of Predicted Forced Vital Capacity

For more information about the Life Saving Drugs Program please refer to www.health.gov.au/LSDP

References

  1. 1.Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE. Pompe disease diagnosis and management guideline. Genet Med. 2006;8.