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Two new data sets on rare disease


New data from a retrospective, natural history cohort study presented today at the 19th Meeting of the European Neurological Society (ENS), Italy, shows that Niemann-Pick type C disease (NP-C) is characterised by continuous, unbroken, progression of neurological symptoms.

An additional retrospective cohort study also presented at ENS, has shown that Zavesca (miglustat) may stabilise important neurological symptoms associated with NP-C in many patients of all age groups.

The Natural History study was an international, observational, multicenter, retrospective cohort study undertaken to characterise NP-C and presents data for 57 patients, followed for a mean of five-and-a-half years since the diagnosis of NP-C. A disease-specific disability scale from 0 (best) to 1 (worst), based on four key neurological parameters of NP-C: manipulation, ambulation, language articulation and swallowing, was used alongside a composite score of the parameters to evaluate disease progression. Among the patients with at least one year follow-up the majority (86%) showed deterioration during the observation period, no patient showed spontaneous improvement. Disease progression rates were consistently higher among patients with the youngest age at diagnosis.

Dr Frédéric Sedel, Senior Neurologist, Salpêtrière Hospital, Paris and National History study investigator commented: “These findings are significant for patients and families with NP-C and healthcare professionals treating them because they confirm that NP-C is a rapidly progressing neurological disease. This means we absolutely need to specifically target our approach in managing NP-C to focus on the neurological aspects of the disease. In a disease like NP-C it is impossible to reverse neurological damage that has already occurred, so we must focus our efforts on the best possible outcome, which is disease stabilization.”

An additional retrospective cohort study investigated the effect of Zavesca on the neurological symptoms of NP-C. This international, multicenter study involved 66 patients. Neurological disease progression was measured using the same disability scale as in the Natural History study as well as a composite score. This study showed that treatment with miglustat decreased the mean annual progression rate in composite score from +0.11 units score per year (seen both in the Natural History study and in the pre-Zavesca phase of this study) to -0.01 units score per year, indicating potential stabilization of neurological disease associated with NP-C. This was seen in all age groups and was greatest in older patients.

Lead investigator, Dr Mercè Pineda, Consultant Neurologist, Hospital Sant Joan de Déu, Barcelona commented: “As a treating clinician these findings are invaluable and mean that patients with NP-C, treated with miglustat, can reach the best attainable outcome at present, whilst there is no cure for this devastating disease. The stabilisation of neurological symptoms can allow patients to maintain a certain level of quality of life, whether that is being able to continue eating rather than being tube-fed or prolonging their mobility. The data also shows that age of disease onset has a notable influence on patients’ response to miglustat therapy.”

Zavesca has been shown to be generally well tolerated in patients with NP-C, with the most common adverse events being – among others – diarrhea and weight loss, whose prevalence decreased over time.

Zavesca is the first licensed treatment available for people with NP-C and received EU approval in January 2009. It is approved for the treatment of progressive neurological manifestations of NP-C in adult patients and pediatric patients. Regulatory proceedings to extend the use of Zavesca in patients with NP-C are ongoing in other countries worldwide.


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