Gene therapy breakthrough in mice for rare degenerative brain disorder
a study from the University College London Great Ormond Street Institute of Child Health (UCL GOS ICH) and Great Ormond Street Hospital (GOSH; both London, UK), scientists have for the first time developed a gene therapy targeting dopamine transporter deficiency syndrome (DTDS), a rare degenerative brain disorder.
Often mistaken for cerebral palsy, DTDS is a movement disorder that causes dystonia and parkinsonism. It is known to affect around 50 children worldwide, and sadly there is currently no available therapy.
In their state-of-the-art study, which will soon progress to clinical trials, the team were able to cure DTDS in mouse models of this disease – providing new hope to patients.
Their results were recently reported in the journal, Science Translational Medicine.
“Our study provides real hope of an effective treatment for children who are living with this devastating, life-limiting brain disease, and it is hugely exciting to be at the stage of planning a clinical trial just 10 years after discovering the gene that causes the condition,” commented Manju Kurian, co-lead author on this study and the scientist behind the discovery of this disease.
“We hope this pioneering gene therapy will prevent the progression of this rare but cruel disease with a single procedure, giving children the improved quality and length of life that they deserve. If we can use gene therapy to treat children with this condition early enough, there is great potential for improvement in their health,” she continued.
In the study, the team took skin cells from DTDS patients and turned these into stem cells, which were then converted into the exact brain cells that carry the genetic mutation responsible for DTDS. Then, the team used fluorescence microscopy to see what was happening in their ‘disease in a dish’.
With this information, the team were able to begin testing their novel gene therapy on mice models of DTDS – where they used a harmless virus to carry the healthy gene into the area of the brain where the gene was missing.
“Our whole working process has been guided by one principle: we want to find the answers for these children and how we can treat them. The mice received the same carefully selected vector and delivery route that we plan to use in treating the children. This careful selection has allowed us to progress rapidly to design a protocol so we can start the clinical trial next year,” commented Simon Waddington, co-lead author on this study.
The mice were successfully cured of their symptoms including involuntary and disordered movements, progressive parkinsonism and weight loss.
“While DTDS is rare, we know that there are many other conditions we can model in this way, opening the door for a standardised approach to finding cures for these rare conditions,” he concluded.
Link:https://www.regmednet.com/gene-therapy-breakthrough-in-mice-for-rare-degenerative-brain-disorder/
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