We would like to thank everyone for their support.

With your help we have raised £124,000 so far!

 

 

Our target is to raise £224,000 by the end of 2017

Where the money goes

Hereditary spastic paraplegias (HSPs) are a family of progressive lower-limb spasticity disorders characterized pathologically by loss neurons connecting the brain to spinal cord. SPG15, a member of the HSP family, is a rare condition. SPG15 is more complex than other HSPs since other neurological symptoms such as (but not restricted to) ataxia, epilepsy, and mental impairment are often observed. Unfortunately patients with HSPs, including SPG15, have no treatment options. Gene therapy aimed at restoring defective genes therefore represents a rational therapeutic approach to ameliorate the disease. The therapeutic gene will be transferred into cells using virus carriers which have been modified to remove all harmful properties. This virus is being safely used for therapy development in other human diseases.

The work is done by Professor Mimoun Azzouz, previously Head of Neurobiology at Oxford Biomedica and one of the leading experts in the UK in the use of gene therapy for neurodegenerative diseases. He leads an extensive programme at the Sheffield Institute for Translational Neuroscience (SITraN) aiming to replace or silence faulty genes in forms of neurodegenerative diseases which are caused by a known gene mutation.

Gene therapy technology is currently generating great optimism among patients and their families. However, to develop gene-based therapy for SPG15, further extensive studies are needed to refine our strategy before entering clinical application.

Funds are needed to achieve the following aims:

1) Prepare the therapeutic virus for testing in cells and model systems in the lab to generate a proof-of-concept, a critical step before initiating further pre-clinical work;

2) Prepare the therapeutic virus carrier at the quality acceptable for clinical use in humans;

3) Determine the minimal dose of the carrier that generates efficacy in our animal model;

4) Assess potential adverse effects in a regulatory safety study.

5) Secure the licensing needed to initiate human clinical trials.