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Fabry disease in children: agalsidase-beta enzyme replacement therapy

L Borgwardt1, U Feldt-Rasmussen, A K Rasmussen

  • 1Department of Clinical Genetics, Centre for Inherited Metabolic Disorders, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Line.gutte.borgwardt@rh.regionh.dk

Clinical Genetics
|August 14, 2012
PubMed

Insights

Enzyme replacement therapy (ERT) with agalsidase-beta improved pain and energy in children with Fabry disease. Early ERT may prevent severe organ complications in pediatric patients.

Area of Science:

  • Pediatric Nephrology
  • Rare Genetic Diseases
  • Enzyme Replacement Therapy

Background:

  • Fabry disease is a rare, progressive, multi-organ lysosomal storage disorder.
  • Complications include kidney, cardiac, and neurological damage.
  • Enzyme replacement therapy (ERT) is a treatment option.

Purpose of the Study:

  • To assess the efficacy of agalsidase-beta ERT in pediatric Fabry disease patients.
  • To evaluate the impact of ERT on Fabry disease manifestations in children.
  • To determine if early ERT initiation prevents severe complications.

Main Methods:

  • Nationwide, descriptive, observational, retrospective cohort study.
  • 10 children (9-16 years) treated with agalsidase-beta for 1-8 years.
  • Systematic clinical and laboratory investigations.

Main Results:

  • No serious kidney, heart, or brain involvement developed during follow-up.
  • Improvements noted in headache, neuropathic pain, and gastrointestinal symptoms.
  • Increased energy levels and physical activity observed.
  • Agalsidase-beta associated with reduced pain and headache.

Conclusions:

  • ERT with agalsidase-beta demonstrates clinical significance in improving quality of life for children with Fabry disease.
  • Early ERT initiation may be beneficial in preventing severe Fabry disease manifestations.
  • While not all pain aspects are resolved, ERT offers meaningful symptom management.

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