June 19, 2024

Vita Nectar

Health is the main investment in life

Life-saving enzyme replacement therapy approved for rare genetic condition in babies

3 min read

Published: 28 November 2023

A treatment for Wolman disease is now available in England following clinical trials at NIHR Manchester Clinical Research Facility.

What is Wolman disease?

Wolman disease occurs in one in every 350,000 births and affects one or two babies born every year in England. Babies with this rare genetic disorder do not produce an enzyme that is required to break down fats in the body. It causes build-up of fat in cells in:

  • the liver
  • heart
  • blood vessels
  • digestive system

This can result in multi-organ damage. 

Symptoms in babies include:

  • enlarged liver and spleen
  • poor weight gain
  • low muscle tone
  • jaundice 
  • vomiting
  • diarrhoea
  • anaemia
  • difficulty in the digestion or absorption of nutrients from food

Previously the NHS had no options for Wolman disease and infants would not normally live to see their first birthday. These patients would have their symptoms managed and end of life care.

Enzyme replacement therapy

The National Institute for Health and Care Excellence (NICE) has recommended the enzyme replacement therapy sebelipase alfa (Kanuma®) for use by the NHS for the treatment of Wolman disease. The enzyme replacement therapy (ERT) works by giving the missing enzyme to the patient via intravenous infusions. A low fat diet is recommended alongside the treatment. Some patients may require blood and marrow or stem cell transplant.  The approved treatment will be delivered by specialist services at Manchester University NHS Foundation Trust, Birmingham Women’s and Children’s Hospital and Great Ormond Street Hospital. The NIHR Manchester Clinical Research Facility (CRF) delivered world-first clinical trials for the treatment. The trial began in May 2011. The researchers undertook phase 1 and phase 2 studies over a number of years. 

Life-saving treatment for Hashir Nawaz 

The team in Manchester have delivered life-saving treatment to Hashir Nawaz, an eight-year-old from Sheffield who was diagnosed with Wolman disease aged three months. Hashir started treatment with sebelipase alfa in January 2016 as part of a clinical trial at the NIHR Manchester CRF. Hashir receives the treatment once every two weeks. Hashir’s father, Jabran, said: “Without sebelipase alfa, Hashir would not be alive today. Thanks to the treatment, Hashir turned eight last month and is able to live a normal life – going to school full-time, meeting friends on the weekend, and enjoying holidays abroad, including Disneyland. This medicine has made a huge difference to our lives, and we are incredibly grateful to the clinicians and the hospital for Hashir’s treatment.” 

Professor Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital and Clinical Director of NIHR Manchester CRF at RMCH, said: “Today marks a major milestone in treatment for infants born with Wolman disease and signifies a substantial step forward in our dedication to practical advancements in rare disease medicine and improved patient outcomes, through research. “I am thrilled to see that this life-saving drug will now be available on the NHS as a specialist service for the benefit of more children and families with this rare genetic condition. More than a decade on since our world-first clinical trials, I am incredibly proud of what our research and clinical teams here in Manchester have delivered collaboratively, which has contributed to this successful outcome.” 

Liz Worsley, Nurse Manager at the NIHR Manchester CRF at RMCH, gave the first dose of the treatment in the world-first phase 1 trial in 2011, when she was a senior clinical research nurse. She said: “It is absolutely amazing to see the difference this treatment has made. Particularly when I see some of these children in the hospital coming to their appointments now thriving, attending school and achieving everything you would want for your own child, it is really rewarding. 

“It’s so heart-warming when the families remember us, and it’s been a real privilege to be a part of this chapter in their lives and to share this journey with them.”

Read about the trials at NIHR Manchester Manchester Clinical Research Facility.


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