First-of-a-kind plan announced to get more children access to cutting-edge, proven gene therapy treatments for rare diseases

A new plan to revolutionise how children living with a rare disease can gain access to life-changing treatments that have been proven to work has been announced today by Great Ormond Street Hospital (GOSH), supported by LifeArc and Great Ormond Street Hospital Children’s Charity (GOSH Charity).

A big challenge with developing treatments for rare diseases is that due to small patient numbers, they are often not commercially viable for companies to invest in and keep on the market, even if the treatment itself can cure a condition.

This is why GOSH, GOSH Charity and LifeArc, are joining forces to get these treatments to the children that need them in a plan that would be the first of its kind in the UK. This would see an NHS Trust holding the market authorisation - or licence – for a gene therapy drug for the first time, so that patients can directly benefit.

Through this new funding, GOSH will now explore if the hospital could take on the licences for these sorts of treatment to make them accessible to children at GOSH and in other hospitals via collaborative NHS agreements.

The new approach will be piloted with a lentiviral gene therapy for ADA-SCID that was co-developed between GOSH and UCL Great Ormond Street Institute of Child Health in the UK and UCLA in the USA. [1]

ADA-Severe Compromised Immuno-deficiency (ADA-SCID) is a rare condition that means the immune system doesn’t develop. It affects up to three children every year and leaves them very vulnerable, meaning even minor infections can become life-threatening. Children with ADA-SCID have a faulty gene that is responsible for the production of an enzyme, ADA, which plays a key role in helping cells in the immune system grow and divide. The gene therapy works by replacing the faulty gene with one that works, allowing the production of ADA.

Professor Claire Booth, Mahboubian Professor in Gene Therapy and Paediatric Immunology at UCL Great Ormond Street Institute of Child Health and GOSH, said: “For rare and ultra-rare diseases, it’s a sad fact that there is little commercial reason for companies to develop costly treatments with very small markets. This means that treatments that have been shown to work through research are not getting to patients who could benefit from them. It’s simply not good enough that we have treatments that we know work, but we can’t get them to our patients. We must do something radical to tackle this. We are exploring what we can do in a place like GOSH, where we have the academic facilities to manufacture treatments combined with a rich history of working with other NHS hospitals, in research and clinical care.”

Family story

Sarah is a happy healthy seven-year-old now, but her mum, Maria, explains what it was like for her little girl to be diagnosed with ADA-SCID at just a few weeks old, and then be part of the gene therapy trial at GOSH.

 “I remember the exact time I saw the paper that had the blood test results on and the diagnosis. I saw it was SCID and I was incredibly upset… I wasn’t allowed to kiss my daughter or sleep next to her. Everything had to be highly sterilised to keep her safe. It was horrible to not be able to do normal things with my own daughter.”

 “It was such a relief to hear there was another option and she’s doing so well now and can do everything her friends do – she does more! She does karate, swimming, ballet, gymnastics, acrobatics, street dance and it’s still a struggle to get her to bed at 9.30pm!”

“We have always felt quite lucky that Sarah got the treatment when she did, but it was only through the research programme that she got it. To think that we now know the gene therapy can work and families still can’t get it seems senseless.”

 “We hope that this new project at GOSH will mean that more families like us can get transformative treatments for rare diseases without uncertainty, and go on living their lives and having new adventures.”

Dr Catriona Crombie, Head of Rare Disease at LifeArc, said: “LifeArc are committed to overcoming the hurdles that stop tests and treatments for rare diseases reaching the people that need them. It is not acceptable to us that there are proven treatments failing to reach patients due to commercial challenges, and we are determined to drive change. We are incredibly pleased to partner with GOSH to see if this model could lay the foundations for an entirely new way of giving more people access to life-changing treatments.”

Aoife Regan, Director of Impact and Charitable Programmes at GOSH Charity said: “GOSH Charity is excited to support such an important and innovative project alongside LifeArc and GOSH. Gene therapies can have a transformative impact and if successful, this model could be used for a wide variety of rare inherited diseases that affect children at GOSH and beyond. If we did not support this work children in the UK with life limiting illnesses would be unable to access proven therapies that we already know can transform their lives. This is simply unacceptable. Our commitment to funding work to help accelerate gene therapy development will continue through our newly launched research strategy, which will see the charity invest in pioneering areas of child health research.”

This model, if successful, could work for other treatments, helping more people living with rare diseases get access. For this exploratory stage GOSH will be working with partners experienced in clinical development at LifeArc and Parexel, one of the world’s largest clinical research organizations (CROs). Some 3.5 million people in the UK live with a rare disease and GOSH, GOSH Charity and LifeArc are working together to find better ways get treatments to those who need them.

[1] This treatment was published in 2021 [2] It was invented at University College London and the University of California, Los Angeles, with clinical trials at Great Ormond Street Hospital and UCLA Mattel Children’s Hospital.

[2] Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency | NEJM, Kohn, Booth et al. nejm.org/doi/full/10.1056/NEJMoa2027675

Spokespeople and Family are available for interview, subject to availability.

About GOSH

Great Ormond Street Hospital is one of the world’s leading children’s hospitals with the broadest range of dedicated, children’s healthcare specialists under one roof in the UK. The hospital’s pioneering research and treatment gives hope to children from across the UK with the rarest, most complex and often life-threatening conditions. Our patients and families are central to everything we do – from the moment they come through the door and for as long as they need us.  All research at Great Ormond Street Hospital NHS Foundation Trust is made possible by the National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre.

About LifeArc

LifeArc is a self-funded, not-for-profit medical research organisation and charity. We take science ideas out of the lab and help turn them into medical breakthroughs that can be life-changing for patients. We have been doing this for more than 25 years and our work has resulted in five licensed medicines, including cancer drug pembrolizumab (Keytruda®), lecanemab for Alzheimer’s (Leqembi), and a diagnostic for antibiotic resistance.

Our teams are experts in drug and diagnostics discovery, technology transfer, and intellectual property. Our work is in translational science – bridging the gap between academic research and clinical development, providing funding, research and expert knowledge, all with a clear and unwavering commitment to having a positive impact on patient lives.

LifeArc is a company limited by guarantee (registered in England and Wales under no. 2698321) and a charity (registered in England and Wales under no. 1015243 and in Scotland under no. SC037861).

Find out more about our work on www.lifearc.org or follow us on LinkedIn or Twitter.

About Great Ormond Street Hospital Children’s Charity:   

  Great Ormond Street Hospital Children’s Charity needs to raise money to support the hospital to give seriously ill children, the best chance for life. The charity funds research into pioneering new treatments for children, provides the most up to date medical equipment, funds support services for children and their families and supports the essential rebuilding and refurbishment of the hospital. You can help us to provide world class care for our patients and families. For more information visit www.gosh.org   

The Cell and Gene Therapy Facility at GOSH

GOSH is equipped with a Cell and Gene Therapy Facility, licenced by the Medicines and Healthcare products Regulatory Agency (MHRA) for manufacture of advanced therapy medicinal products (ATMPs).

It is comprised of seven bespoke laboratories and provides comprehensive facilities for all stages of manufacture. This includes tissue culture labs, storage, waste treatment and quality control. This work is labour intensive, highly regulated and innovative. The facility also has a simulation suite that is used for education and training.

The laboratories are based at the hospital and The Zayed Centre for Research (ZCR) into Rare Disease in Children.