Investigating the potential of gene therapy for treatment of DADA2 vasculitis

Disease - Vasculitis

Lead applicant - Dr Despina Eleftheriou

Organisation - University College London

Type of grant - Invited Research Award

Status of grant - Active

Amount of the original award - £132,556.82

Start date - 1 September 2018

Reference - 21791

Public Summary

What are the aims of this research?

Gene therapy is an experimental technique in which scientists put genes into cells in the laboratory to treat or prevent disease. This research aims to investigate the potential use of gene therapy to treat a specific type of vasculitis, known as DADA2 vasculitis. In the laboratory, gene therapy will be used to replace a gene which is not working properly and causing the disease.

Why is this research important?

The researchers will investigate this therapy in a recently discovered form of vasculitis, called DADA2. This condition is caused by a change (mutation) in a single gene called CECR1, which makes the gene faulty. Treatment of DADA2 with established biologic drugs can be effective but this treatment strategy is not ideal as these drugs can have lots of side effects and treatment needs to be by injection for life.

The researchers would like to see if they can treat DADA2 patients using gene therapy to insert a working CECR1 gene into the patient's DNA, therefore correcting the faulty, disease-causing CECR1 gene. In this research, scientists will investigate exactly what goes wrong in patients with DADA2 by looking at cells in which the CECR1 gene has been removed. Test tube experiments will be carried out to perform gene therapy to correct the gene defect associated with DADA2.

How will the findings benefit patients?

The project will inform an international programme of work for gene therapy in people with DADA2 vasculitis. If successful, the results from this work could provide hope for gene therapy in the treatment of this type of vasculitis. Findings from this project could also be helpful to understand other inflammatory diseases that are caused by mutations of a single gene and how gene therapy could potentially be used as treatment in these diseases.