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GOSH patients to access new treatment for rare metabolic disorders

08/19/2020
Dr Stephanie Grunewald
Dr Stephanie Grunewald

The treatment for long-chain fatty acid oxidation disorders (LC-FAOD) was trialled at centres around the world including Great Ormond Street Hospital (GOSH), and will be offered to patients on a compassionate use basis following approval by the US Food and Drug Administration (FDA).

The newly approved treatment – known as Dojolvi™ (triheptanoin) – offers a novel therapy to reduce disease-related complications that can be life threatening and have a major impact on quality of life. It is the first LC-FAOD treatment to be approved by the FDA – a major milestone for patients, their families and the research team after a five-year trial and almost 20 years of research.

‘GOSH was one of the first centres to start this trial end of 2014,’ says lead researcher Dr Stephanie Grunewald. ‘It’s been a fantastic opportunity for our young patients to benefit from a promising new treatment, but the big question was always what would happen once the trial ended. We’re absolutely thrilled that the pharmaceutical company – Ultragenyx – will continue providing our patients with Dojolvi on a compassionate use programme while we’re waiting for European approvals.’

Improving quality of life

LC-FAOD are a group of very rare genetic disorders that leave the body unable to convert long-chain fatty acids into energy. This is particularly important at times when glucose levels in the body run low, such as during exercise. This inability to produce energy from fat can cause serious, unpredictable and potentially life-threatening complications. It can leave children and young people unable to join in sports and activities with their friends, even stopping some from attending school. 

Dojolvi provides a replacement source of calories for patients with LC-FAOD, ensuring their energy levels remains normal even when their blood sugars run low.

The trial showed that Dojolvi can be added to the patients’ low-fat diet and that side effects - mainly limited to gastrointestinal symptoms – are manageable. Dr Grunewald says the treatment has significantly improved quality of life for her patients.

‘For four of our patients, Dojolvi has reduced complications of their underlying metabolic condition. They experienced many fewer episodes of becoming acutely unwell and of muscle breakdown (rhabdomyolysis), which can be painful, restrict their physical activity and are potentially life threatening.’

The long road to rare disease treatments

LC-FAOD are thought to arise once in every 100,000 to 150,000 births, making them extremely rare. At GOSH, three patients took part in the Dojolvi trial and one additional patient was offered the treatment on compassionate use.

On June 30, when Dojolvi was approved by the US FDA, study lead Dr Jerry Vockley, Professor of Human Genetics and Chief of Medical Genetics at Children's Hospital of Pittsburgh of UPMC, said: ‘Rare disease research, especially development of new therapies, is an arduous and time consuming process, and today’s announcement represents the culmination of nearly 20 years of work on the part of numerous researchers, clinicians, and patients. I’m tremendously excited to have been a part of this process.’

The patients at GOSH will now have access to Dojolvi via a compassionate use programme led by Ultragenyx. The company will be seeking approval for use on the NHS. Other patients in the UK would then be able to benefit from the new treatment.  

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