Clinically known as Neuronal Ceroid-Lipofuscinoses (NCL), Batten disease, is a rare neuron killing disease and one of the lysosomal storage disorders (LSDs). It is associated with a mutation or lack of palmitoyl-protein thioesterase-1 (PPT1) gene. It manifests very early in a child's life causing absence of brain activity as early as 4 years of age.
Dr. Mukherje of NICHD has discovered and developed N-t-BuHA, a chemical derivative of hydroxylamine that mimics the action of PPT1 enzyme. Compared to hydroxylamine, N-t-BuHA has been shown to be non-toxic in mice expressing batten disease. In addition, NtBuHA exhibited potent antioxidant property and extended the life of the diseased mice. NtBuHA has shown promising therapeutic potential to treat NCL-LSDs.
- Small molecule therapeutic for neuronal ceroid-lipfuscinoese
- Small molecule to treat or prevent thioesterase deficiency disorders.
- First of its kind to treat INCL and other LSD
- Non-toxic dertivative therapeutic against thioesterase deficiency disorders
Anil Baran Mukherjee (NICHD), Chinmoy Sarkar (NICHD), Zhongjian Zhang (NICHD)
Sarkar, C., et al. [PMID 24056696]
- U.S. Patent Filed: U.S. Patent Application Number 14/110,393, Filed 07 Oct 2013
- Foreign Filed: EP - Patent Application 12716889.6, Filed 07 Oct 2013