MAR 15, 2018 10:30 AM PDT

Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies for Novel Therapy Development

Presented at: Neuroscience 2018
Speaker
  • Senior Director of Therapeutic Development and Associate Scientist in Children's Health Research Center, Sanford Research
    BIOGRAPHY

Abstract

The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward progress on these disease and restricts access to good animals models, patient cells lines, and other tools for studying these disorders and can significantly hinder the speed at which treatments are developed for these disorders. In the last year, a number of groups have started to focus on how to transform "transdisciplinary" research in rare diseases to increase data sharing and expedite therapeutic development.  In this talk, we will use our work on a  rare, genetic, lysosomal storage disorder called CLN6-Batten disease as a case example of how to tackle rare disease research in a more efficient manner.  CLN6- Batten disease presents with gradual declines in motor, visual, and cognitive ability and early death by 12-15 years of age and currently no cures are available for this disease. CLN6-Batten disease is caused by mutations causing absence or reduced abundance of the CLN6 protein, making gene therapy a promising therapeutic strategy. We developed a scAAV9 vector expressing the human CLN6 (hCLN6) gene under the control of a chicken β-actin (CB) promoter. A single, postnatal intracerebroventricular (ICV) injection of scAAV9.CB.CLN6 at postnatal day 1 induced widespread, long-term expression of hCLN6 RNA and protein in the brain of Cln6nclf mice. This one-time treatment prevented or drastically reduced all of the pathological and behavioral hallmarks of Batten disease. Importantly, while all untreated CLN6 mice died between 12-14 months of age, scAAV9.CB.CLN6 significantly extended the median survival beyond 22 months of age and all of the histopathological, behavioral and cognitive parameters continued to improve throughout the lifespan of the treated mice. To our knowledge, this is the longest survival extension reported in this mouse model to date.


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MAR 15, 2018 10:30 AM PDT

Overcoming Hurdles in the Study of Rare Diseases: Innovative Strategies for Novel Therapy Development

Presented at: Neuroscience 2018

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