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.
TPP1 deficiency results in classic late infantile (type 2) neuronal ceroid lipofuscinosis
(LINCL, also called Jansky-Bielschowsky disease) (9).
Final diagnoses were lung metastasis of a cortical-type thymoma, atherosclerosis stage IV, lipofuscinosis
of brain neurons, and adrenal interrenal cell degeneration.
Because melanosis coli is not due to melanin pigmentation, the names pseudomelanosis coli or lipofuscinosis
coli have been suggested.
Singh et al., "The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis
: Amelioration by resveratrol," Human Molecular Genetics, vol.
Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis
. Epilepsia 2000; 41:1296-1302.
 showed that the lack of CLN3 function leads to a failure to control the response to oxidative stress and this causes juvenile neuronal ceroid lipofuscinosis
(also known as Batten disease), a disease characterized by neuronal degeneration.
Adult neuronal ceroid lipofuscinosis
with clinical findings consistent with a butterfly glioma.