2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Real World Experience of Velaglucerase Alfa in Children Under 4 Years of Age with Gaucher Disease: A Retrospective/Prospective Study

Real World Experience of Velaglucerase Alfa in Children Under 4 Years of Age with Gaucher Disease: A Retrospective/Prospective Study

Back to course

Pdf Summary

This study evaluated the real-world experience of velaglucerase alfa in children with Gaucher disease (GD) who started treatment before the age of 4. GD is a rare autosomal recessive lysosomal storage disease characterized by deficient activity of glucocerebrosidase. The standard treatment for GD is enzyme replacement therapy (ERT), and velaglucerase alfa is one of the products used for long-term ERT in pediatric patients. However, there is limited evidence on the use of velaglucerase alfa in children under the age of 4.<br /><br />The study included 10 patients with GD who received velaglucerase alfa before the age of 4. Interim data from the study showed no safety concerns and provided valuable insight into the clinical course of GD in infants and young children. Hemoglobin and platelet counts were within reference ranges for most patients at enrollment. GD biomarkers, including glucosylsphingosine (lyso-Gb1) and chitotriosidase, decreased rapidly from baseline levels to within therapeutically acceptable ranges.<br /><br />Treatment patterns varied, with most patients receiving home infusions of velaglucerase alfa. The initial dosage differed based on symptom severity. Liver and spleen sizes showed improvement with velaglucerase alfa treatment. No new safety concerns or drug-related adverse events were identified, including immune hypersensitivity reactions.<br /><br />The study has some limitations, including its small sample size and the lack of control data for comparison. However, the findings provide much-needed evidence on the safety and efficacy of velaglucerase alfa in children with GD aged under 4 years. Further research is needed to generalize these findings to a larger pediatric GD population.

Asset Subtitle

Presenting Author - Ozlem Goker-Alpan, MD; Co-Author - Andrew Friedman, BSc; Co-Author - Margarita Ivanova, PhD; Co-Author - Ravi Pathak, PhD, MBA; Co-Author - Ekaterina Wright, MD;

Meta Tag

Enzyme Replacement Therapy

Lysosomal Diseases

Metabolic Disorder

Therapy

Co-Author Andrew Friedman, BSc

Co-Author Margarita Ivanova, PhD

Co-Author Ravi Pathak, PhD, MBA

Co-Author Ekaterina Wright, MD

Presenting Author Ozlem Goker-Alpan, MD

Keywords

velaglucerase alfa

Gaucher disease

enzyme replacement therapy

pediatric patients

lysosomal storage disease

glucocerebrosidase

safety concerns

clinical course

home infusions

immune hypersensitivity reactions