Our Science
Our current disease targets are:
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 currently more than 80 known types of HSP.
Hereditary Spastic Paraplegia, sub-type 47 (SPG47) is a subset of AP-4-associated HSPs with as many as 5,000 patients predicted worldwide.
AP-4 HSPs are caused by mutations in one of the following four genes: AP4B1, AP4E1, AP4M1 and AP4S1. These HSP sub-types affect brain and nerve development, and can lead to 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 cure or disease-modifying treatments available at this time.
Dopamine deficiencies
A depletion in dopamine has been shown to be a cause of many serious neurological diseases including Parkinson’s disease, restless leg syndrome, ADHD and depression.
Following a detailed investigation, the company has identified the following rare neurological diseases caused by dopamine deficiency for which no treatment exists: sepiapterin reductase deficiency (SRD), 6-pyruvoyl tetrahydropterine synthase deficiency (PTPSD), dihydropterine reductase (DHPR) and tyrosine hydroxylase (TH).
All of these rare diseases are typified by symptoms including movement disorders, intellectual disability, seizure and other developmental delays.
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 and the selected dopamine deficiencies. Instead, patients are offered occupational therapy, speech therapy, physical therapy, mobility aids and family support groups to help manage symptoms.
Our work in gene therapies for rare diseases like SPG47 and dopamine deficiencies is essential since they address a significant unmet need.
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.
