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

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The Eunice Kennedy Shriver National Institute of Child Health and Human Development seeks licensing or co-development partners for therapeuctic compounds to treat lysomal storage disorders.
NIH Reference Number
Product Type
  • Non-toxic derivative of hydroxylamine
  • Neuronal Ceroid-Lipofuscinoses (NCL)
  • lysosomal storage disorders (LSD)
  • Palmitoyl-protein thioesterase
  • lysosome
Collaboration Opportunity
This invention is available for licensing and co-development.
Description of Technology

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
  • Small molecule therapeutic for neuronal ceroid-lipfuscinoese
  • Small molecule to treat or prevent thioesterase deficiency disorders.
Competitive Advantages
  • 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)

Development Stage

Sarkar, C., et al. [PMID 24056696]

Patent Status
  • 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
Friday, November 9, 2018