News

Vtesse: Update on the Vtesse Clinical Trial of VTS-270 (September Newsletter)

Update on the Vtesse Clinical Trial of VTS-270:

We continue to open up new sites and enroll patients. We currently have 34 patients who have been enrolled in the trial.

Two sites in Australia are now active and both have patients set to screen in November.
The three sites in Germany report that they all have patients who will be screening in November.
We are working to bring interested families in from countries that are outside of the clinical trial site countries so that they can be involved in the trial.

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.,,