A treatment for a rare genetic condition that usually kills babies before they turn one is to be made available in England in a first for the NHS.
It is hoped the move will help save the lives of babies and toddlers born with Wolman disease, a type of lysosomal acid lipase deficiency that occurs in one in every 350,000 births.
The condition causes a build-up of fat in cells in the heart, blood vessels, liver and digestive system.
Symptoms include enlarged livers or spleens, poor weight gain and muscle tone, jaundice, anaemia, and developmental delays.
Sebelipase alfa, also known as Kanuma, is an enzyme replacement therapy that is given weekly through intravenous infusions.
A low-fat diet is recommended alongside treatment, with some also requiring a stem-cell transplant.
Prior to the therapy’s approval by the National Institute for Health and Care Excellence (Nice), there were no treatments available for Wolman disease on the NHS, with the only options being palliative care or managing symptoms.
Without treatment, babies with the condition usually do not live past their first birthday.
Following the green light from Nice, sebelipase alfa will be fast-tracked to be made available to eligible patients immediately.
It will be delivered by specialist services at Manchester University NHS Foundation Trust, Birmingham Women’s and Children’s Hospital and Great Ormond Street Hospital.
Professor Simon Jones, a consultant in paediatric inherited metabolic disease at the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital, and clinical director of the NIHR Manchester Clinical Research Facility at RMCH, said approval “marks a major milestone”.
He added: “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 lifesaving 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.”
Eight-year-old Shoaib, from Halifax, was diagnosed with Wolman disease through a scan before he was born.
He started sebelipase alfa at three days old after having an older sibling pass away due to the condition.
After being on the therapy for two years, Shoaib had a haematopoietic stem cell transplant and no longer requires treatment.
Shoaib’s mother, Nadia, said: “When Shoaib was diagnosed with Wolman disease we were incredibly worried as we’d already lost another child to the illness.
“However, the treatment gave us real hope for the future, enabling Shoaib to live a normal life where he can go to school every day.”
Hashir Nawaz, also eight and from Sheffield, was diagnosed with Wolman disease at three months and started treatment in January 2016.
Hashir’s father, Jabran, said: “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.”
NHS England chief executive Amanda Pritchard said: “I am delighted the NHS can now, for the first time, offer a life-changing treatment to families facing this enormously difficult condition.
“Where previously there were no treatments available for infants facing this debilitating disease, this new therapy could save families from facing indescribable grief and allow more children like Hashir and Shoaib to grow up, go to school and live normal lives.”
