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

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. 

Potential Commercial Applications: Competitive Advantages:
  • 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

Development Stage:
Pre-clinical (in vivo)


Anil Mukherjee (NICHD)  ➽ more inventions...

Chinmoy Sarkar (NICHD)  ➽ more inventions...

Zhongjian Zhang (NICHD)  ➽ more inventions...

Intellectual Property:
US Pat: - issued -
EP Application No. 12716889.6 filed on 2013-10-07

Sarkar, C., et al. PMID 24056696

Collaboration Opportunity:

Licensing and research collaboration

Licensing Contact:
John Hewes, Ph.D.
Phone: 240-276-5515

OTT Reference No: E-157-2011
Updated: Nov 9, 2018