News

Sanofi Genzyme: Pivotal Phase 2/3 Trial of Olipudase Alfa for Adult Patients with Acid Sphingomyelinase Deficiency to Begin in the UK

Oxford, UK – 3 November, 2016 – Sanofi Genzyme, the specialty care global business unit of Sanofi, announced today that the first adult patient in the UK has enrolled and been dosed in a pivotal Phase 2/3 clinical trial named ASCEND for the investigational therapy olipudase alfa. Olipudase alfa is an enzyme replacement therapy being studied for the treatment of non-neurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B (NPD B). The first patient was dosed at the National Hospital for Neurology and Neurosurgery at the University College of London Hospitals (UCLH).

Rare Diseases in General Practice: Recognising the Zebras Among the Horses

‘When you hear hoofbeats, don’t expect to see a Zebra.'

The above adage is especially useful in primary care as many of the conditions we see are common. But it is not so useful when we consider our role in both diagnosing and supporting patients with rare diseases. We must be ready to think again and look out for the horse with stripes.

Niemann-Pick type C Disease - the tip of the iceberg?

Summary Niemann-Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options.

Orphazyme: Update #11 on the AIDNPC Clinical Programme

At the latest end-of-the-month AIDNPC telephone conference hosted by the sponsor, Orphazyme ApS, the following update on the recruitment into the ‘-001’ and ‘-002’ Studies was presented. Over the last month, no more patients have enrolled in neither of the ‘-001’ and ‘-002’ Studies, leaving the total at 35 patients enrolled to date at 12 European sites...

"No more tiredness - I look forward to it!" Rani Voncxz

The days have been tiring recently for the family from Tessenderlo, but they endured the biweekly trips to Amsterdam for the tests with a smile! Not exactly surprising when you learn that this year marks sixteen years of searching…and that finally they have heard that treatment may be possible.,,