AstraZeneca's rare disease unit has received a recommendation from the National Institute for Health and Care Excellence (NICE) for the use of its enzyme replacement therapy in infants with Wolman disease.

Alexion’s Kanuma (sebelipase alfa), which has been specifically recommended for use in patients who are aged two years or younger when administration begins, will now become the first treatment available on the NHS for the rapidly-progressive rare genetic disease.

Occurring in around one in 350,000 births, Wolman disease causes a build-up of fat in cells in the liver, heart, blood vessels and digestive system.

Symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhoea, developmental delay and anaemia.

Until now, standard care for the disease has been palliative and limited to managing symptoms, with patients normally not surviving past the age of one without treatment.

Administered as weekly intravenous infusions which can be given at home alongside a restricted low-fat diet, Kanuma works by replacing an enzyme missing in the body. Some patients may also have a blood and marrow/stem cell transplant.

NHS 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… to grow up, go to school and live normal lives.”

The therapy will now be fast-tracked via NHS England’s Innovative Medicines Fund to enable routine patient access up to five months earlier than would otherwise be the case.

Sean Richardson, vice president and general manager, Alexion, UK, described NICE’s decision as a “milestone moment for infants born with Wolman Disease and their families”.

He continued: “The recommendation is the result of continued constructive collaboration between Alexion, NICE, NHS England, patient groups and the medical community, to ensure babies born with this life-threatening disease have a treatment available to them.”

https://www.pmlive.com/pharma_news/astrazenecas_rare_disease_unit_receives_nice_recommendation_for_wolman_disease_therapy_in_infants_1504258