Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Pompe disease, a genetic disorder, results from acid alpha-glucosidase deficiency, impacting muscle function.
• Enzyme replacement therapy (ERT) using recombinant human alpha-glucosidase was approved in 2006 for infants.
• Long-term efficacy data for ERT in older children and adults remained limited.

Observation:

• This study presents an extended 5-year follow-up of three patients (two adolescents, one adult) previously treated with ERT for Pompe disease.
• Two severely affected patients, dependent on wheelchairs and ventilators, were assessed for pulmonary and muscle function.
• A third, moderately affected patient's muscle strength and ambulation were monitored.

Findings:

• Severely affected patients maintained stabilization of pulmonary and muscle function over the 8-year total follow-up period.
• These patients also experienced increased independence in daily activities and improved quality of life.
• The moderately affected patient demonstrated continued improvement in muscle strength, achieving age-normal values and sustained ambulation.

Implications:

• Long-term enzyme replacement therapy demonstrates sustained benefits for Pompe disease patients across disease severity.
• The findings underscore the importance of extended follow-up to fully assess ERT efficacy.
• Optimizing the timing of enzyme replacement therapy initiation is critical for maximizing patient outcomes in Pompe disease.