Enzyme replacement therapy with Cerezyme (imiglucerase) shows long-term benefits on the quality of life in young children with Gaucher disease type 1 (GD1), a study published in Molecular Genetics & Genomic Medicine found.
GD1, the most common form of the disease, is characterized by an accumulation of glucocerebroside in the lysosomes due to inherited mutations in the GBA1 gene.
Symptoms of Gaucher disease vary greatly, from none at all to severe issues affecting the liver, spleen, and bones. It may also appear anytime from childhood to adulthood.
Gaucher patients’ quality of life may be affected, as the disease often limits their goals and expectations. While this side effect has been addressed in adults and adolescents, little is known about the impact of the disease in younger children.
In the study, “Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1,” researchers used a play-performance scale to assess the impact of Gaucher disease type 1 and its treatment in children younger than 10.
The Lansky play-performance scale has been widely used to assess quality of life in children from 1 to 16 years old. It is based on an analysis of performance during play, which is the main activity of children in this age range, to determine quality-of-life improvements in ambulatory or hospitalized children.
The study evaluated five children with GD1 diagnosed and followed at the Lysosomal Disease Department of the Hospital Infantil de México Federico Gómez in Mexico.
Three patients were younger than 2, one was 4 years old, and one was almost 10 years old at the start of the study. All patients had low GBA enzyme activity and were treated with 60 mg/kg of Cerezyme every two weeks. The minimum follow-up time was 30 months.
When they first entered the study, the Lansky scale revealed moderate to severe limitations in physical activity and independence of all children. Six months after starting treatment, however, their performance status had raised from 28 to 70 points. The scores continued to improve until the 18th month — to 95 points — after which they plateaued.
Significant improvements in all features of the disease were observed in all children after starting Cerezyme treatment. Their growth rates were improved, a significant reduction in liver and spleen sizes were reported, and blood analysis were normal.
“ERT can correct many of the pathophysiological disturbances and reverses the symptoms of [Gaucher disease type 1],” the researchers concluded, adding that this has a significant impact on children’s performance.