Our Science
What is Hereditary Spastic Paraplegia?
Hereditary Spastic Paraplegia (HSP) is an umbrella term for a group of genetic disorders caused by one or more gene mutations that can differ in symptoms, the age at which the disease manifests and the nature of inheritance. There are 80 known types of HSP and the disease primarily affects the lower body, though it can affect the upper body and internal organs.
Spastic Paraplegia 47
Spastic Paraplegia 47 (SPG47) is a subset of AP-4-associated HSPs with as many as 5,000 patients diagnosed worldwide.
AP-4 HSPs are caused by mutations in one of the following four genes: AP4B1, AP4E1, AP4M1 and AP4S1. These types of HSPs affect the nerves and can lead to symptoms characterised by physical and intellectual deficiencies that progress over time.
SPG47 is caused by loss-of-function mutations in the AP4B1 gene and is both a neurodevelopmental and progressive neurodegenerative disease with no disease-modifying treatments.
The AAV Advantage
Our treatment method focuses on using an Adeno-Associated Virus (AAV) as a carrier for a healthy gene. AAVs are prevalent in nature and 50-80% of people will carry this virus without showing symptoms. AAVs are safe and effective and are used in many gene therapy products today.
Our method
We take the AAV and remove all the harmful elements before inserting the healthy gene which produces the protein AP4B1.
We inject this customised AAV into the brain where it behaves like any other virus and targets cells, delivering the essential healthy gene without the ability to replicate or cause harm.
Our patent-protected technology has halted the progression of the disease in pre-clinical animal models. The earlier this treatment is given, the better the outcome.
Why is our gene therapy so important?
Right now, there is no known cure for HSP. Instead, patients are offered years of physical therapies to help alleviate the symptoms, mobility aids and support groups.
Our work in gene therapies for rare diseases like SPG47 is essential simply because no one else is doing it. There is a clear unmet need for developing novel therapies like this.
As well as providing hope to patients and their families, gene therapies like ours also have the potential for cost savings over a lifetime by averting prolonged illnesses.
