This week in therapeutics




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Endocrine/metabolic disease

Glycosphingolipid storage disorders

Palmitoyl-protein thioesterase 1 (PPT1)

In vitro and mouse studies suggest a hydroxylamine derivative could help treat infantile neuronal ceroid lipofuscinosis (INCL), a lysosomal storage disorder in which loss of PPT1 function leads to lysosomal ceroid accumulation and neuronal damage. In lymphoblasts from patients with INCL, the hydroxylamine derivative N-(tert-Butyl) hydroxylamine (NtBuHA) depleted lysosomal ceroids. In Ppt1 knockout mice, NtBuHA depleted lysosomal ceroids and decreased neuronal apoptosis and increased survival compared with no treatment. Next steps include carrying out IND-enabling studies of NtBuHA.

SciBX 6(40); doi:10.1038/scibx.2013.1130
Published online Oct. 17, 2013

Patent application filed; available for licensing

Sarkar, C. et al. Nat. Neurosci.; published online Sept. 22, 2013;
Contact: Anil B. Mukherjee, National Institute of Child Health and Human Development, Bethesda, Md.