Why is this research important?
More than 3.5 million people in the UK are affected by one of more than 7,000 rare conditions and 80% have a genetic origin. Many rare conditions caused by genetic mutations lack effective treatments. New gene therapies are being developed to target the genetic causes of these conditions. They offer hope but are costly and complex to test due to strict regulations.
With NIHR funding and collaborative working, we brought together expert teams to create a pathway for approving these trials, to meet regulatory standards.
This enabled us to successfully launch our first gene therapy trial in 2023, with the NIHR Manchester CRF at Salford Royal Hospital treating the first UK patient with a gene therapy for genetic disorder Gaucher’s Disease.
Gaucher’s Disease is an inherited condition and caused by a mutation in a gene that results in abnormally low levels of an enzyme needed to break down a certain type of lipid. Lipids are fatty compounds that are part of cell membranes and help with moving and storing energy, absorbing vitamins and making hormones.
This pioneering investigational gene therapy is a one-time treatment aiming to help the body produce the key enzyme, stop disease progression and improve symptoms.
Thanks to changes in governance processes, we now have several gene therapy studies in progress for metabolic and neurological conditions, offering hope for life-changing outcomes for people with rare diseases.