Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience
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View abstract on PubMed
Summary
This summary is machine-generated.Enzyme replacement therapy with velaglucerase alfa shows promise for treating Gaucher disease (GD) in young children. Early treatment improved clinical markers and was well-tolerated, with no adverse events reported.
Area Of Science
- Biochemistry
- Genetics
- Pediatrics
Background
- Gaucher disease (GD) is a rare genetic disorder.
- Early diagnosis and treatment are crucial for managing GD.
- Enzyme replacement therapy (ERT) is a key treatment modality.
Purpose Of The Study
- To assess the effectiveness and safety of velaglucerase alfa ERT in young children with GD.
- To provide insights into the clinical progression of GD diagnosed and treated early in life.
Main Methods
- A Phase IV, observational, retrospective and prospective study (NCT04721366) enrolled 11 children with GD who started velaglucerase alfa before age 4.
- Patients were identified through newborn screening (NBS) and clinical diagnosis.
- Treatment involved velaglucerase alfa (60-80 U/kg) administered weekly/bi-weekly, often at home, for a median of 12 months.
Main Results
- All patients showed improved or stable hematological values, organ sizes, and growth parameters.
- No GD-related bone manifestations were observed.
- Plasma glucosylsphingosine levels significantly decreased within 6 months of ERT initiation.
- No drug-related adverse events were reported.
Conclusions
- Velaglucerase alfa is well-tolerated in very young children with GD types 1 and 3.
- Early ERT with velaglucerase alfa is associated with positive clinical outcomes.
- The study offers valuable insights into the early clinical course of GD in infants and young children.
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