P

atients with the rare condition Niemann-Pick type C (NP-C) disease have been given new hope following the launch of the first ever approved therapy for the condition – Actelion’s Zavesca – across the UK this week.

NP-C is an inherited genetic disorder estimated to affect around one in 150,000 adults and children in Western Europe, although the firm points out that its prevalence could actually be much higher because of a lack of definitive testing and a high infant death rate associated with the disease, amongst other factors.

The illness causes a toxic build up of certain lipids in cells damaging their functionality and thereby leading to progressive neurological symptoms, such as the inability to coordinate voluntary muscular movements, problems with balance and slurred/irregular speech. The prognosis for patients with NP-C is relatively poor, as most die within five to 10 years of diagnosis.

Treatment for the disease has, to date, been centred on managing its associated symptoms, but the approval of Zavesca (miglustat) has substantially improved the outlook for patients because clinical trials have shown that it is able to stabilise or even slow down the progression of neurological deterioration.

“The data on the effects of treatment with Zavesca obtained in a clinical trial and in a retrospective cohort study consistently showed a favourable clinical response, [and] as a treating physician I am acutely aware of the importance of reducing progression of neurological symptoms,” commented Ed Wraith of the Royal Manchester Children's Hospital.

Zavesca was originally developed as a treatment for the genetic disorder Gaucher disease, but received the green light for NP-C from European regulators in January this year, after it was originally rejected by European Medicines Agency advisors.