Approval of Life-saving Enzyme Replacement Therapy for Rare Infant Genetic Disorder

A life-saving treatment for Wolman disease is now available in England, following successful clinical trials conducted at the NIHR Manchester Manchester Clinical Research Facility. Wolman disease is a rare genetic disorder that affects one or two babies born every year in England, causing a build-up of fat in cells in various organs, leading to multi-organ damage. Previously, there were no treatment options available for Wolman disease, and infants affected by the disorder would not normally live to see their first birthday. However, the enzyme replacement therapy sebelipase alfa (Kanuma®) has been recommended by the National Institute for Health and Care Excellence (NICE) for use by the NHS in the treatment of Wolman disease.

The enzyme replacement therapy works by providing the missing enzyme to the patient through intravenous infusions, alongside a low-fat diet. Specialist services at Manchester University NHS Foundation Trust, Birmingham Women’s and Children’s Hospital, and Great Ormond Street Hospital will be responsible for delivering the approved treatment. The NIHR Manchester Clinical Research Facility conducted world-first clinical trials for the treatment over a number of years, with a positive impact on patients’ lives. One example is Hashir Nawaz, an eight-year-old boy from Sheffield who was diagnosed with Wolman disease at three months old. Hashir started treatment with sebelipase alfa in January 2016 as part of a clinical trial and continues to receive the treatment every two weeks, enabling him to live a normal life.

Professor Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at the Manchester Centre for Genomic Medicine, expressed his excitement about the treatment’s availability on the NHS and its significant contribution to improved patient outcomes. Liz Worsley, Nurse Manager at the NIHR Manchester Clinical Research Facility, also highlighted the remarkable difference the treatment has made in the lives of children with Wolman disease, emphasizing the rewarding nature of witnessing their thriving health. This milestone in rare disease medicine marks a substantial step forward in research and offers hope to families affected by Wolman disease. Additional information about the trials can be found on the NIHR Manchester Manchester Clinical Research Facility’s website.

Help improve our content system

Click on a star to rate it!

Average rating 0 / 5. Vote count: 0

Share this story:

Transplant News
Transplant News

Transplant News brings you the news and content that matters to the transplant community. From patient stories, to the latest in transplant innovation, Transplant News is your window into the world of transplantation.