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AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease.

Author: ColacoAlexandria, FletcherClaire, HenckaertsEls, HuebeckerMylene, HughesMichael P, MassaroGiulia, MorrisLauren, PalomarNuria, PlattFrances M, RahimAhad A, SmithDave A, TordoJulie, WaddingtonSimon N

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Overview

AAV-mediated gene therapy may be a potential therapeutic option for Niemann-Pick type C disease (NP-C). A study in a mouse model of NP-C showed that a single administration of AAV-mediated gene therapy to the brain significantly extended lifespan, improved quality of life, prevented or ameliorated neurodegeneration, and reduced biochemical pathology.
Paper Details　
Original Abstract of the Article :
Niemann-Pick type C disease (NP-C) is a fatal neurodegenerative lysosomal storage disorder. It is caused in 95% of cases by a mutation in the NPC1 gene that encodes NPC1, an integral transmembrane protein localized to the limiting membrane of the lysosome. There is no cure for NP-C but there is a di...See full text at original site
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引用元：
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097154/

データ提供：米国国立医学図書館（NLM）

AAV9 Gene Therapy: A Potential Treatment Option for Niemann-Pick Type C1 Disease

This research explores the potential of AAV9-mediated gene therapy as a treatment option for Niemann-Pick type C1 disease (NP-C), a fatal neurodegenerative lysosomal storage disorder. The study investigated the effects of a single intracerebroventricular administration of AAV9-mediated gene therapy in a well-characterized mouse model of NP-C. The results demonstrated significant improvements in lifespan, locomotor function, and pathology, along with normalization or improvement in various indices of motor function. The authors conclude that AAV9 gene therapy holds promise as a potential therapeutic option for NP-C, offering potential benefits over current disease-modifying drugs like miglustat.

Gene Therapy: A Beacon of Hope for Niemann-Pick Type C1 Disease

The study's findings provide a glimmer of hope for individuals with NP-C. The observed improvements in lifespan, locomotor function, and pathology, along with the absence of adverse effects, highlight the potential of AAV9 gene therapy as a valuable treatment option. This research offers a promising avenue for exploring innovative therapies for this devastating disease.

Navigating the Future of Treatment: Exploring Gene Therapy for Neurodegenerative Disorders

This study serves as a testament to the growing potential of gene therapy in treating neurodegenerative disorders. The promising results for NP-C suggest that gene therapy could offer a transformative approach to managing a wide range of neurological conditions. Further research is needed to translate these findings into clinical applications for human patients, but the potential for gene therapy to revolutionize neurological care is undeniable.

Dr. Camel's Conclusion

This study offers a ray of hope for individuals with Niemann-Pick Type C1 disease, demonstrating the potential of AAV9 gene therapy to improve lifespan, locomotor function, and pathology. While further research is needed to translate these findings into clinical applications for human patients, the study highlights the potential of gene therapy to offer a transformative approach to managing this devastating disease.

Date :
  1. Date Completed 2019-03-08
  2. Date Revised 2022-01-29
Further Info :

Pubmed ID

29878115

DOI: Digital Object Identifier

PMC6097154

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・Side Effects of miglustat
SNS
PICO Info
in preparation
Languages

English

Positive IndicatorAn AI analysis index that serves as a benchmark for how positive the results of the study are. Note that it is a benchmark and requires careful interpretation and consideration of different perspectives.

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