Developing gene therapy for a rare neurodegenerative condition called Beta-propeller Protein-associated Neurodegeneration.
Project Leader: Prof. Manju Kurian
Start Date: 1st June 2024
End Date: 31st May 2027
INTRODUCTION
Professor Manju Kurian of UCL Great Ormond Street Institute of Child Health is developing a gene therapy for children with BPAN. Her hope is that this will ultimately lead to a safe and effective new treatment that can help slow disease progression - transforming the lives of children born with this debilitating condition.
WHY
BPAN is a rare genetic condition that progressively damages the nervous system, leading to a range of distressing symptoms that gradually worsen over time.
A child born with BPAN typically experiences early-life seizures (epilepsy), learning difficulties and delayed development, speech problems and movement issues affecting walking and everyday activities. In late adolescence or early adulthood, intellectual decline begins, leading to dementia, along with worsening movement problems such as involuntary contractions and tremors.
There is no cure, and children's lives will often be cut short. New treatments are desperately needed that can slow down or stop the disease's progression.
HOW
BPAN is caused by a faulty gene, called WDR45, which usually produces a protein that plays an important role in removing waste material from cells. Without this protein, toxic substances build up in nerve cells, leading to damage and cell death.
Researchers aim to develop a new treatment using a harmless virus to deliver a healthy copy of the WDR45 gene directly into the brain. To test this gene therapy's safety and effectiveness, they will create two lab models:
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Firstly, they will generate 'mini-brains grown from reprogrammed patient skin cells.
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Secondly, they will use a mouse model with similar features to the human disease.
Successful results could lead to future clinical trials in children with BPAN.
IMPACT
If successful, this could lead to a new treatment for BPAN that can halt disease progression, increase life expectancy and provide a better quality of life for children and their families affected by this devastating condition.
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