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Gene therapy White paper

White paper on referral pathways for gene therapy

Published on: 4 September 2023

As gene therapy to treat Duchenne muscular dystrophy is approved in America, a report highlights how NHS referral for gene therapy trials, and approved treatment, need to be agreed.

The report, published today, is the result of a collaborative effort of the DMD Hub, including Newcastle University’s John Walton Muscular Dystrophy Research Centre, Cell and Gene Therapy Catapult, and the Northern Alliance Advanced Therapy Treatment Centre.

The charity Duchenne UK says that the report is particularly important for patients and families living with Duchenne muscular dystrophy as it sets key recommendations that, if implemented, will transform access to these potentially life-changing treatments.

Professor Michela Guglieri

Gene therapy treatment

Duchenne muscular dystrophy is a genetic disease that causes muscle weakness and wasting. It eventually affects all the muscles in the body, including the heart and lungs.

There is currently no cure for Duchenne muscular dystrophy, but there are treatments and therapies that can slow down the progression and improve quality of life.

Gene therapy is one of the most promising new treatments for it. It involves delivering new genetic material to cells to overcome errors (or mutations) on the dystrophin gene.

A gene therapy was approved as a Duchenne muscular dystrophy treatment in the US in June. This was the first Duchenne muscular dystrophy gene therapy to be approved anywhere in the world.

While not yet available as an approved treatment in the UK, there are Duchenne muscular dystrophy gene therapy clinical trials taking place and giving eligible Duchenne muscular dystrophy patient the opportunity to access these, potentially transformative, treatments.

Michela Guglieri, Professor of Neuormuscular Disorders and Senior Clinical Lecturer at Newcastle University, said: “As gene therapy is on the horizon for Duchenne muscular dystrophy as a licenced product, we considered how we can prepare for gene therapy licenced products in Duchenne muscular dystrophy as standards of care, using learnings and shared experiences from approved gene therapies in other neuromuscular disorders.

“A set of recommendations for improved, standardised future practice is proposed, as well as referral pathways for gene therapy clinical trials and licenced products for Duchenne muscular dystrophy.”

Experts hope that gene therapy for Duchenne muscular dystrophy will be approved as a treatment in the UK in the next couple of years.

Patient referral pathways

The report highlights how important it is to understand the current gene therapy patient referral pathways in the UK and sets out how they could be improved.

The white paper outlines the following recommendations in the context of NHS England, but potentially applicable nationally.

•  Ensuring that adequate and sustainable infrastructures are in place for effective patient referrals to gene therapy clinical trials.

•  Reviewing how to attract doctors and other healthcare professionals to specialise in neuromuscular disorders, and plan the provision of training and education targeted at gene therapy.

•  Evaluating where additional clinical trial and commissioning sites for Duchenne muscular dystrophy gene therapy should be located geographically to improve access and invest in developing infrastructures to deliver these trials.

•  Implementation of national referral pathways for clinical trials and access to gene therapy treatment.

Alessandra Gaeta, Director of Research at Duchenne UK, said: “Now that these recommendations have been developed, we can use them to drive best practice in Duchenne muscular dystrophy through their adoption in the NHS.”

Emma Heslop, DMD Hub Manager, added: “By highlighting best practice from across the UK, we propose a referral pathway for gene therapy clinical trials in the UK, to allow effective and equitable access to research for Duchenne muscular dystrophy patients.”

The full findings and recommendations in the report Evaluation of the Gene Therapy Patient Referral Pathways in the UK, can be found here.


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