Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

@article{Mole2019ClinicalCA,
  title={Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis},
  author={Sara E. Mole and Glenn W. Anderson and Heather A Band and Samuel F. Berkovic and Jonathan D. Cooper and Sophia-Martha kleine Holthaus and T. Mckay and Diego Luis Medina and Ahad A. Rahim and Angela Schulz and Alexander J. Smith},
  journal={The Lancet Neurology},
  year={2019},
  volume={18},
  pages={107-116}
}
Pharmacological approaches to tackle NCLs.
Advances in the treatment of neuronal ceroid lipofuscinosis
TLDR
Much progress has been made in NCL research, including better animal models, biomarkers and improved therapeutics with many of them reaching the clinical trial stage, with emphasis on the last decade.
An update on the progress of preclinical models for guiding therapeutic management of neuronal ceroid lipofuscinosis
TLDR
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.
Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses
TLDR
Different approaches, including experimental enzyme replacement therapy, gene therapy, cell-based therapy, and immunomodulation therapy were evaluated and showed encouraging therapeutic benefits and the long-term benefits of these therapeutic interventions remain to be investigated in future clinical studies.
[Experimental therapeutic approaches for the treatment of retinal dystrophy in neuronal ceroid lipofuscinosis].
TLDR
The published data on preclinical studies demonstrate the efficacy of different therapeutic strategies to attenuate retinal degeneration and vision loss in animal models for different NCL forms.
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.
Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid Lipofuscinoses
TLDR
The emerging evidence of glial dysfunction questions the traditional “neuron-centric” view of NCLs, and would suggest that directly targeting glia in addition to neurons could lead to better therapeutic outcomes.
Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview
TLDR
The main aim of this review is to summarize the current state-of-art in the field of childhood Neuronal Ceroid Lipofuscinosis, a group of rare neurodegenerative disorders, and describe the large variety of experimental models which have aided this research, as well as the most recent technological developments which have shed light on the main mechanisms involved in the cellular pathology.
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References

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TLDR
The current state of knowledge on small molecule compounds that demonstrate in vitro and/or in vivo efficacy across the NCLs is presented and an emphasis on targets of action is presented.
Towards a new understanding of NCL pathogenesis.
Synergistic effects of treating the spinal cord and brain in CLN1 disease
TLDR
It is found that spinal cord pathology significantly contributes to the clinical progression of INCL and can be effectively targeted therapeutically.
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
TLDR
It is suggested that clinicians should aim to provide every child and family with detailed diagnostic information at clinical, biochemical, and genetic levels where possible, which the new classification allows in a gene-led hierarchical manner.
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Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data
Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease; Batten disease) is an autosomal recessive neurodegenerative disease of childhood that typically presents at school age with vision loss
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