Sialidosis

Sialidosis is a rare lysosomal storage disease caused by mutations in the NEU1 gene that generates alysosmal enzyme called neuraminidase 1 (Neu1). This enzyme is essential for the breaking down proteins in the lysosomes of cells. Deficiency in NEU1 function causes accumulation of proteins in tissues throughout the body that results in cell death and cellular dysfunction. Type I sialidosis, is the less severe form of the disease with onset in the first or second decade of life with symptoms such as, myoclonus, seizures, muscle twitches and cognitive dysfunctions. Ultimately, type I sialidosis patients become wheelchair bound due to their inability to regulate normal bodily functions, such as breathing and eating. Type II is the most severe form and is categorized by congenital or infantile onset that includes facial and bone deformities, enlarged spleen and livers, overgrowth of gums, hearing loss and severe developmental delay. Currently there is no effective treatment for sialidosis.

As no large animal model of sialidosis currently exists we plan to generate a sheep model of sialidosis using a technology called CRISPR-Cas9 to create mutations in the NEU1 gene of sheep embryos. These embryos containing a mutated NEU1 gene are then implanted in donor sheep that will continue to develop until birth. Our goal is to characterize and understand sialidosis in sheep, that will ultimately guide our research in developing an effective treatment for sialidosis.

As we prepare for future gene therapy clinical trials we need to identify Type I and Type II patients.  Please join the registry here:  https://www.curemucolipidosis.org/join-the-registry