News

CTD Holdings Receives FDA Fast Track Designation for Trappsol® Cyclo™

The U.S. Food and Drug Administration (FDA) has granted Fast Track designation to Trappsol® Cyclo™ for the treatment of systemic Niemann-Pick Disease Type C (NPC), a rare and fatal genetic disease. Trappsol® Cyclo™ is the Company's proprietary formulation of hydroxypropyl beta cyclodextrin in development for the treatment of NPC; it has previously been designated an Orphan Drug by the FDA and the European Medicines Agency.

Jim Green: Stepping Down as NPUK Trustee

Jim Green, a founding member of NPUK all the way back in 1991 - and therefore an individual who has been connected to Niemann-Pick UK for over 25 years, is stepping down from the charity's Board of Trustees. ..

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.