New Suspicion Index for Niemann-Pick type C disease published in Journal of Rare Disorders offers enhanced features to simplify the assessment of a rare genetic disease
An updated and more advanced tool assesses symptoms individually and in specific combination to provide superior discriminatory performance and detection power, including in patients aged ≤ 4 years, compared to the initial suspicion index for the disease.
ALLSCHWIL, SWITZERLAND – Monday 29 August 2016 – Actelion Ltd (SIX: ATLN). A new and improved Suspicion Index for Niemann-Pick type C disease (NP-C) has been published, offering superior discriminatory performance to help physicians identify the complex and variable symptoms of this rare genetic disorder and to determine which patients to refer for NP-C testing.
“Diagnosis of NP-C can be difficult as the symptoms are highly variable and not specific to the disease,” commented Professor Christian Hendriksz of Manchester Academic Health Science Centre (MAHSC), Salford Royal NHS Foundation Trust, Manchester, UK, a specialist in pediatric and adult metabolic disease, who was involved in the development of the new NP-C Suspicion Index (NPC-SI). “It is therefore with great anticipation and clinical excitement that we launch a more sophisticated and advanced Suspicion Index that we believe will greatly improve the identification of NP-C.”
The new NPC-SI is supported with scientific evidence recently published in two journals, differentiating between patients aged 4 and above, and those under 4 years, in the Journal of Rare Disorders: Diagnosis & Therapy and BioMedCentral Pediatrics respectively.1,2 It is the result of a collaboration between Actelion and 18 international NP-C experts who reviewed the original NPC-SI and patient databases, to develop a more advanced algorithm3 with improved discriminatory performance for all ages versus the original NPC-SI.
New analyses of the original NPC-SI database, together with a new and integrated database of infantile patients up to 4 years of age, facilitates the identification of NP-C patients with an unclear diagnosis by assessing symptoms both individually and in specific combination with each other.
Today, Actelion is delighted to provide physicians access to the new NPC-SI (www.NPC-SI.com) online or via a mobile phone app (Apple iTunes and Google Play), for a quick, convenient and easy to use assessment of patients, during or following a consultation.
Professor Hendriksz added “By assessing symptoms individually and in specific combination with each other, based on analyses of a new, improved database, the new NPC-SI offers superior predictive performance for all ages. This makes it an even more valuable tool in helping physicians make the right referral decision and shortening time to diagnosis – allowing patients and families to access the care and treatment they need.”
NP-C: variable and non-specific signs and symptoms
NP-C is a rare genetic condition that causes the toxic accumulation of lysosomal lipids in the body, leading to progressive neurological and systemic symptoms.4,5,6 Estimated incidence is approximately one in 90,000 live births, but the true number may be much higher, as NP-C is often misdiagnosed.7,8 Symptoms are highly variable and non-specific to NP-C, meaning the average time to NP-C diagnosis is 5 to 6 years.9 Early diagnosis is vital to ensure patients and their families can access appropriate support and early treatment, which may help delay the progression of disease and improve patient outcomes.5,9,10
Professor Mercedes Pineda of The Foundation of Hospital Sant Joan de Deu, Barcelona, Spain, a senior consultant of child neurology who was involved in the development of the new NPC-SI, said: “NP-C symptoms often first manifest in infants and young children. As NP-C is a progressive disease, it’s critical that physicians are able to spot these symptoms as early as possible, so that patients can access treatment to delay disease progression. The new NPC-SI is based on a database which includes an independent cohort of 200 patients under the age of 4, and so offers enhanced discriminatory power within this key age bracket.”
Calculating a risk prediction score
The new NPC-SI attributes a numeric value to each of the symptoms common for the disease, individually and in specific combination, as well as to relevant family history. This generates a total risk prediction score which indicates whether or not the patient should be referred on to a specialist center for further discussion or immediate testing.
The new NPC-SI was developed through a retrospective review of 216 patients aged 4 and above and 200 infantile patients aged ≤ 4 years (106 NPC cases, 31 non-cases and 63 controls). Symptoms identified as being particularly strong predictors of the disease include vertical supranuclear gaze palsy (impairment of vertical eye movement), gelastic cataplexy (sudden weakness or collapse associated with strong emotion), neonatal jaundice, enlarged spleen and cognitive decline, along with parents or siblings diagnosed with NP-C.
Over 11,000 healthcare professionals have accessed the original NPC-SI since it was launched in 2012.
Full details and data on the new NPC-SI can be accessed at www.raredisorders.imedpub.com and https://bmcpediatr.biomedcentral.com/. To download the new NPC-SI app and for practical information on diagnosing NP-C, visit www.NPC-SI.com.
Notes to the editor
About Niemann-Pick type C disease (NP-C)
NP-C disease is a treatable rare, neurodegenerative, genetic condition, primarily affecting children and teenagers although the clinical manifestations can become apparent at any age. The symptoms are caused by the storage of some lipids - such as glycosphingolipids and cholesterol - within certain tissues in the body, including the brain.
Neurological deterioration is the key feature of the disease and can manifest itself as clumsy body movements, balance problems, slow and slurred speech, difficulty in swallowing, problems with eye movements and seizures. Intellectual decline is also common. In the final stages of the disease the child or young adult is frequently bedridden, has little muscle control and is intellectually impaired. Diagnosis of the disease can be difficult and may take years due to the rarity and heterogeneity of the condition. There is no specific drug therapy approved in the United States to treat NP-C disease; however a treatment has been available throughout Europe since 2009.
About Actelion Pharmaceuticals Ltd
Actelion Ltd. is a leading biopharmaceutical company focused on the discovery, development and commercialization of innovative drugs for diseases with significant unmet medical needs.
Actelion is a leader in the field of pulmonary arterial hypertension (PAH). Our portfolio of PAH treatments covers the spectrum of disease, from WHO Functional Class (FC) II through to FC IV, with oral, inhaled and intravenous medications. Although not available in all countries, Actelion has treatments approved by health authorities for a number of specialist diseases including Type 1 Gaucher disease, Niemann-Pick type C disease, Digital Ulcers in patients suffering from systemic sclerosis, and mycosis fungoides type cutaneous T-cell lymphoma.
Founded in late 1997, with now over 2,500 dedicated professionals covering all key markets around the world including Europe, the US, Japan, China, Russia and Mexico, Actelion has its corporate headquarters in Allschwil / Basel, Switzerland. Actelion shares are traded on the SIX Swiss Exchange (ticker symbol: ATLN) as part of the Swiss blue-chip index SMI (Swiss Market Index SMI®). All trademarks are legally protected.
1. Hendriksz J, Pineda M, Fahey M, et al. The Niemann-Pick Disease Type C Suspicion Index: Development of a New Tool to Aid Diagnosis, Journal of Rare Disorders: Diagnosis & Therapy. 2015:1(11);1-9.
2. Pineda M, Mengel E, Jahnova H, Heron B, Imrie J, Lourenco C, van der Linden V, Karimzadeh P, Valayannopoulos V, Jesina P, Torres J, Kolb SA. A novel Suspicion Index tool to aid diagnosis early-onset Niemann-Pick disease type C (NP-C). BMC Pediatr. 2016;16:107.
3. Wijburg F, Sedel F, Pineda M, et al. Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C. Neurology May 15, 2012 78:1560-1567.
4. Vanier M. Niemann-Pick disease type C. Orphanet Journal of Rare Diseases. 2010;5:16
5. Patterson M, Hendriksz C, 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):330-344.
6. Wraith J, Imrie J. Understanding Niemann-Pick disease type C and its potential treatment. UK Blackwell Publishing, 2007.
7. Orphanet Report Series, Rare Diseases Collection, Number 1, July 2015. Prevalence and incidence of rare diseases: Bibliographic data. Available at: http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf. Last accessed August 2016.
8. 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.
9. Mengel E, Klünemann H, Lourenço C, et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet Journal of Rare Diseases. 2013, 8:166.
10. Niemann-Pick type C disease: Journey to Diagnosis. A patient report. September 2010. Available at: http://www.niemann-pick-c.com/assets/np-crep211010final1.pdf. Last accessed August 2016.
For more information, please contact:
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Date of preparation: August 2016
Job number: 15016211Editor's Details
Last updated on: 30/08/2016
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