FAQs

In this section you will find answers to some of the most frequently asked questions about the Think Again. Think NP-C campaign. If you have a question which hasn’t been addressed here then please feel free to Contact us.

What is Niemann-Pick type C disease (NP-C)?

NP-C is a rare progressive, irreversible and chronically debilitating lysosomal storage disease that can affect infants, children, adolescents and adults.1-3 The incidence of NP-C is approximately 1 in 90,000 live births but this is thought to be an underestimate due to a lack of clinical awareness of the disease and the difficultly in recognising NP-C because of its highly heterogeneous clinical presentation.4

Visit Could it be NP-C? for more information

What are the symptoms of NP-C?

Symptoms of NP-C vary widely due to the storage of fatty molecules affecting different parts of the body. Symptoms include hepatosplenomegaly (enlargement of the liver and spleen), ataxia (balance disorder, clumsiness and frequent falls), developmental delay, cognitive decline, organic psychosis and vertical supranuclear gaze palsy (the inability to rapidly move the eyes up and down voluntarily).1,2

Visit Could it be NP-C? for more information

How is NP-C diagnosed?

NP-C is difficult to diagnose because the symptoms can occur at different times and with varying severity in each person.1 A healthcare professional needs to recognise the symptoms of NP-C and then link them together in order to Think Again. Think NP-C. When there is a suspicion of NP-C the patient is then referred on to a specialist centre for testing to confirm a diagnosis.1

Visit Could it be NP-C? for more information

Why is it so important to increase awareness of NP-C?

Early diagnosis means patients can access support, which can improve their quality of life and the lives of those around them.2 Early diagnosis is also important as NP-C is a treatable disease. Treatment can help to manage the symptoms and can slow down the progression of the disease.2,3,5 Early diagnosis can only be achieved if there is an awareness of NP-C amongst healthcare professionals who may see a patient with NP-C.

Visit Could it be NP-C? for more information

How do I get in touch with an NP-C specialist?

If you are a healthcare professional interested in speaking to an NP-C specialist, please contact us and we will try to put you in touch with a specialist.

Alternatively, to find your nearest NP-C specialist centre, visit Suspect NP-C?

Where is my nearest NP-C specialist centre?

To find your nearest NP-C specialist centre, visit Suspect NP-C?

How has the Think Again. Think NP-C campaign been developed?

The INPDA is leading the Think Again. Think NP-C campaign, which aims to support healthcare professionals who are unfamiliar with NP-C to recognise the key signs and symptoms of NP-C to help patients by speeding up diagnosis and ultimately optimising care and treatment outcomes. Actelion Pharmaceuticals Ltd has provided financial support to develop the campaign.

Visit About the Think Again. Think NP-C campaign for more information

Who is the INPDA?

The INPDA, the International Niemann-Pick Disease Alliance, is an alliance of non-profit organisations supporting those affected by Niemann-Pick Disease. This organisation operates as a global network to exchange information, experience and knowledge of NP-C.

To learn more about the INPDA, visit About the INPDA or http://www.inpda.org/

What is the role of the advisory committee in the campaign?

Involvement and input from a multidisciplinary advisory committee comprising specialist clinicians and nurses has been invaluable to inform the educational content of the campaign to ensure it is accurate, relevant and resonates with healthcare professionals unfamiliar with NP-C.

To find out more about the advisory committee, visit About the advisory committee

How have the campaign materials been developed?

The materials for the Think Again. Think NP-C campaign have been developed by the INPDA, with expert input and support from a multidisciplinary advisory committee, with the collaboration and financial support of Actelion Pharmaceuticals Ltd.

What languages are the campaign materials available in?

Campaign logos and specialty-specific posters for healthcare professionals are available in English, French, Italian, German and Spanish.

Please Contact us if you need support in translating campaign materials

The campaign materials are not available in my local language – what can I do?

Please Contact us if you need support in translating campaign materials.

Who has provided financial support to develop the campaign?

Actelion Pharmaceuticals Ltd has provided financial support to develop Think Again. Think NP-C.

How long will the campaign run for?

The Think Again. Think NP-C campaign is an ongoing initiative dedicated to raising awareness of NP-C and supporting earlier diagnosis for patients.

References

  1. Mengel E, Klünemann H, Lourenço C, et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis 2013; 8:166.
  2. Patterson M, Hendriksz, Walterfang M, et al. on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab 2012; 106(3):330-44.
  3. Vanier, M. Niemann-Pick disease type C. Orphanet J Rare Dis 2010; 5:16.
  4. Wassif C, Cross J, Iben J et al. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med 2016;18(1):41–48.
  5. Wijburg F, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78(20):1560-7.

 

This website is intended for healthcare professionals outside of the US.

I hereby certify that I am a healthcare professional outside of the US.

I am a healthcare professional working in the US.

The information on this website is not country specific.

You are now leaving the Think Again. Think NP-C website.

The INPDA offers the link to the following Internet sites as a service to the Internet community but is not responsible for the content published on the website you are about to enter