An update on the progress of preclinical models for guiding therapeutic management of neuronal ceroid lipofuscinosis

Hemanth Ramesh Nelvagal, Jonathan D. Cooper

Research output: Contribution to journalReview articlepeer-review


Introduction: The neuronal ceroid lipofuscinoses (NCLs) are a group of pediatric inherited neurodegenerative disorders affecting children and young adults. All forms of NCL are fatal and with no curative therapies available there is a pressing need to model their pathology in biological model systems to enable the systematic and rigorous testing of preclinical therapies. Areas covered: This article discusses and provides an update on the recent advances in modelling NCL disease pathology in various different model systems and their relevance to testing preclinical therapies so as to ensure optimal translation into human patients. The research articles discussed here were curated from PubMed (Last accessed-12.4.19) and Google Scholar (Last access-12.4.19) databases. Expert opinion: Both in vitro and in vivo biological model systems have been established for various forms of NCL. These have informed us about pathophysiology, revealed novel therapeutic targets, and provided landmarks of disease progression against which to test potential therapies. Studying NCL pathology across different species has been very informative regarding where therapies need to be delivered with an increasing focus on disease outside the brain. Testing such therapies in animal models of increasing complexity has allowed the translation of more efficacious therapies for clinical trials.

Original languageEnglish
Pages (from-to)555-568
Number of pages14
JournalExpert Opinion on Orphan Drugs
Issue number12
StatePublished - Dec 2 2019


  • Batten disease
  • CRISPR/Cas9
  • Neuronal ceroid lipofuscinoses
  • enzyme replacement therapy
  • gene therapy
  • large animal models
  • lysosomal storage disorders


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