The company said that RGX-181 is a one-time treatment candidate for late-infantile neuronal
ceroid lipofuscinosis type 2 (CLN2) disease, one of the most common forms of Batten disease caused by mutations in the tripeptidyl peptidase 1 (TPP1) gene.
Neuronal
ceroid lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoylprotein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases.
Infantile neuronal
ceroid lipofuscinosis (INCL) is a severe lysosomal disease caused by mutations in the CLN1 gene, which encodes the soluble lysosomal enzyme Palmitoyl- Protein-Thioesterase-1 (PPT1) and result in osmiophilic granules accumulating in lysosomes and leading to neuroinflammation, neurodegeneration and death.
A 9-year-old boy with a history of neuronal
ceroid lipofuscinosis with acute repetitive seizures, in bedridden status, was admitted to the Phramongkutklao Hospital due to community-acquired pneumonia and had myoclonic seizures more than 100 times per day.
Electroencephalography in juvenile neuronal
ceroid lipofuscinosis: visual and quantitative analysis.
Van Der Kant et al., "Neuronal
ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments," Cellular and Molecular Life Sciences, vol.
Neuronal
ceroid lipofuscinosis: late infantile or Jansky Bielschowsky type--re-revisited.
Haltia, "MRI of neuronal
ceroid lipofuscinosis. II.
A postmortem diagnosis of neuronal
ceroid lipofuscinosis (NCL) was made based on the presence of neuronal granular cytoplasmic material that was autofluorescent and stained with periodic acid Schiff and Luxol fast blue.
The data were derived from postmortem examinations of three patients in the company's Phase I clinical trial of HuCNS-SC cells in neuronal
ceroid lipofuscinosis (NCL, also referred to as Batten disease), a rare and fatal neurode-generative disorder in children.
It is the most common form of a group of disorders called neuronal
ceroid lipofuscinosis (or NCLs).
Neuronal
ceroid lipofuscinosis: a clinicopathological study.