Dawn Laney, genetic counselor at the Emory University School of Medicine, discusses a Fabry disease registry analysis examining growth in children being treated with agalsidase beta.
Fabry disease is a rare lysosomal storage disease characterized by a deficiency of alpha-galactosidase (alpha-GAL). Alpha-GAL is important in the breaking down of globotriaosylceramide (GL3). Without enough alpha-GAL, the lysosomes become filled with GL-3 and can not work well. Symptoms of Fabry disease may include episodes of pain, especially in the hands and feet, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Internal organs, such as the kidney, heart or brain, may also be affected, leading to progressive kidney damage, heart attacks, and strokes. Milder forms of Fabry disease may appear later in life and affect only the heart or kidneys. Fabry disease is caused by genetic changes in the GLA gene.
The objective of this analysis was to assess the growth trajectories of pediatric patients with classic Fabry disease during the natural history and agalsidase beta treatment periods. Agalsidase beta is a recombinant human alpha-GAL indicated for the treatment of Fabry disease.
From the analysis, it was observed that male patients had significant improvements in the agalsidase beta treatment period when compared to the natural history. These patients had a mean increase of 6.7 percentiles for height and 5.5 percentiles for weight. While the change in BMI was also positive, it was not statistically significant. Height gains were the most notable in ages 14 to 20 years and weight gains most notable in ages 3 to 11 years.
For female patients, changes were more modest. However, significant height and weight improvements were observed in ages 3 to 11 years.
To learn more about Fabry disease and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/
