Technology ID

CNS Therapeutics That Target Neuronal Ceroid-Lipofuscinoses and Thioesterase Deficiency Disorders

Lead Inventor
Mukherjee, Anil (NICHD)
Sarkar, Chinmoy (NICHD)
Zhang, Gary Zhongjian (NICHD)
Development Stages
Pre-clinical (in vivo)
Lead IC

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. 

Competitive Advantages:

  • First of its kind to treat INCL and other LSD
  • Non-toxic dertivative therapeutic against thioesterase deficiency disorders

Commercial Applications:

  • Small molecule therapeutic for neuronal ceroid-lipfuscinoese
  • Small molecule to treat or prevent thioesterase deficiency disorders.
Licensing Contact:
Gunas, Heather