Niemann-Pick Type C (NP-C) is a rare inherited neurodegenerative disease that affects infants, children and adults. It is caused by an accumulation of lipids (fats) in the liver, brain and spleen. The age of onset and rate of disease progression can vary greatly from person to person; for example some children develop neurological symptoms early in childhood, whereas others may remain symptom free for a number of years.
It is inherited when two copies of a faulty gene (a mutation) are passed on to a child. In every pregnancy of a couple who each carry a copy of the faulty Niemann-Pick gene, there is a 1 in 4 chance (25%) that their child will have Niemann-Pick disease. This is known as autosomal recessive inheritance.
NP-C is divided into two subtypes, NP-C1 and NP-C2, as each is caused by a different gene mutation. Approximately 95 per cent of NP-C cases are caused by genetic mutations in the NP-C1 gene, with the other five per cent caused by mutations in the NP-C2 gene.
The incidence of NP-C is widely reported at 1 in 120,000, although recent evidence suggests this may be an under-estimate.
Niemann-Pick Disease Type C (NP-C) is caused by an accumulation of cholesterol and other fatty substances in the liver, brain and spleen.
Niemann-Pick Disease Type C (NP-C) is difficult to diagnosis as the symptoms are non-specific to the disease and will vary from person to person. NP-C is diagnosed by taking a small piece of skin (a skin biopsy) to see whether there is accumulation of fatty substances within the cells.
Diagnosis can also be made via a DNA analysis if the mutations in the affected child are known. This can be done fairly simply on a blood test but is only carried out in a few specialist centres.
Symptoms of Niemann-Pick Disease Type C (NP-C) vary with age of onset and from patient to patient.They may include:
There is no cure for Niemann-Pick Disease Type C (NP-C), although patients benefit from palliative treatments (individual medications that will help to treat the symptoms related to the condition). Occupational therapy can be used to help with posture, speech and movement.
In 2009, the European Medicines Agency approved the use of Zavesca© for the treatment of progressive neurological manifestations in adult and paediatric patients with NP-C. Zavesca© has been shown to delay the progression and stabilise certain symptoms of the disease. However, this drug is not suitable for every affected individual and you are advised to discuss all medical issues with your doctor.
There are a number of clinical trials currently taking place investigating new therapeutic options for patients with NP-C.
The study was recently completed in May 2017. A total of 35 patients were enrolled across 12 sites in 8 countries. The primary objective of the 001 study was to characterize the individual patient’s disease progression profile through clinical, biological and quality-of-life measures recorded prospectively, as well as the historic disease information collected from patient medical records. The 001 study has already provided us with some valuable learnings: The NPC-CSS disease score were completed by patients with a good compliance, the skin biopsies and blood tests have been valuable for development and conformation of biomarkers, and we found that two-thirds of patients were treated with miglustat as part of their standard of care. Once all data have been analysed, we expect to gain insight about biomarkers and how the disease evolves over time in greater detail.Read more
There is an opportunity for you to participate in a market research study about Niemann-Pick Type C, conducted by an organization called ApotheCom on behalf of an industry sponsor.
The goal of the study is to understand your preferences and concerns regarding the method through which a drug could be administered to manage Niemann-Pick Type C.Read more