Here are some useful resources related to NP-C for you to view, download and share with your colleagues.
Think Again. Think NP-Cclose
Think Again. Think NP-C is an international campaign, which aims to support healthcare professionals unfamiliar with NP-C to recognise the key signs and symptoms of the condition. This will help patients by speeding up diagnosis to ultimately optimise care and treatment outcomes.
This campaign is important because currently NP-C takes, on average, five years to diagnose. However, NP-C is treatable and so this means that patients can live for up to five years without treatment or access to support. Accessing support can improve a patient’s quality of life and the lives of those around them. Treatment can help to manage the symptoms and can slow down the progression of the disease.
Think Again. Think NP-C is a campaign led by the International Niemann-Pick Disease Alliance (INPDA), an alliance of non-profit Niemann-Pick disease patient support organisations across the world.
Visit www.think-npc.com for further information about the campaign.
Films to aid recognition of the neurological symptoms of NP-C
This series of educational films, showing how neurological symptoms present in Niemann-Pick type C disease (NP-C), has been developed to help healthcare professionals recognize the signs and symptoms of NP-C. These films include how the following symptoms might manifest in a patient with NP-C and tests to carry out to help healthcare professionals identify these signs:Vertical supranuclear gaze palsy (VSGP)
The films presenting NP-C neurological symptoms have been developed and produced by: Dr Nicholas Smith, Pediatric Neurologist-Neurometabolic Diseases, Department of Medicine, University of Cambridge and Mrs Jackie Imrie, Clinical Nurse Specialist in Niemann-Pick disease, Royal Manchester Children's hospital, with the assistance of Professor JE Wraith, St. Mary's Hospital, Manchester and the generous support of the featured patients and their families.
Specialist signs and symptoms cards
Have you considered Niemann-Pick type C disease?
Four targeted signs and symptoms cards have been developed for pediatricians, neurologists, metabolic disease specialists and psychiatrists to help these different specialists recognize and link together signs and symptoms that could lead to a diagnosis of NP-C. These cards can also be used to help educate clinical colleagues about the disease.
The signs and symptoms cards are tailored for different clinical specialists highlighting the specific signs and symptoms of NP-C that they are most likely to see in patients presenting to them. The cards also help clinicians to understand when to suspect NP-C, which symptoms and features should prompt further investigation and when referral is recommended.
To download the specialist signs and symptoms cards, please click on the icons below:
Actelion Pharmaceuticals Ltd has, alongside three NP-C experts, developed three masterclasses, which are available to healthcare professionals to support the recognition of possible atypical signs and symptoms in their patients. These masterclasses aim to:
- Support effective consultations with patients and their families
- Ensure neurological examination is performed correctly
- Learn to recognize the "red flag", atypical symptoms that indicate a progressive disease.
The three masterclasses are available to:
“Identifying atypical signs & symptoms – When to worry about developmental and psychiatric disorders in childhood”
developed with support from Dr Alasdair Parker, Consultant Pediatric Neurologist, Child Development Centre, Addenbrooke’s Hospital, Cambridge, UK
“Identifying atypical symptoms – Recognizing signs of organic cause in patients with psychosis”
developed with support from Dr Mark Walterfang, Consultant Neuropsychiatrist, Neuropsychiatry Unit, Royal Melbourne Hospital, Australia
“How to spot treatable inborn errors of metabolism”
developed with support from Dr Frédéric Sedel, Consultant Neurologist, Neuro-metabolic unit, Pitié Salpêtrière Hospital, Paris, France.
Self-study e-learning masterclasses are available at http://masterclass.actelion.com and can be downloaded from the website and completed offline.
Physicians completing the masterclass e-learning modules will earn three Continuing Medical Education (CME) credits.
For more information about the entire masterclass or if you are interested in attending or facilitating one of these masterclasses, please contact your local Actelion office at www.actelion.com.
The NP-C registry was launched in May 2009 to provide further valuable long-term data on real-world clinical experience of diagnosing and treating NP-C and understanding the natural history of the disease. The registry will capture data from patients with NP-C who are untreated or currently on treatment. The NP-C registry can be accessed at www.npcregistry.com.
NP-C patient survey
Journey to Diagnosis - specialist reports
In 2010 a patient survey was carried out with parents and carers of patients with NP-C in six European countries. The survey results provided a detailed picture of their experience of the journey to diagnosis, the physical and emotional impact and the importance of early diagnosis in order to access support before, during and after reaching a diagnosis.
The survey results have been compiled into four reports aimed at neurologists, psychiatrists, metabolic disease specialists and pediatricians. The main body of the reports is the same for each specialist group, however targeted introductions and case reports have been included for each specialty. A slide set has also been developed that you may find useful for sharing these survey results with other healthcare professionals. In order to download any of the materials, please click on the icons below:
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The journey to diagnosis and treatment can be lengthy and challenging due to the wide variation in the type and timing of symptoms of NP-C. Some patients and their families have kindly shared their experiences including how they cope and find solutions to everyday challenges.
Hollie and Annie's stories
Hollie is a bright and bubbly four year old girl living with NP-C. In the film, her mother Helen talks about the difficulties experienced in gaining a diagnosis of NP-C for Hollie. She highlights how invaluable support has been to help the family come to terms with Hollie’s illness and how important it will continue to be as they look towards the future.
Annie is a vibrant and creative fourteen year old girl. Her mother Kait tells us about her experience of caring for her daughter. She discusses the neurological symptoms of NP-C that the family has to cope with on a daily basis and how adaptations are a constant feature of family, home and school life as Annie’s symptoms progress.
Adam is a positive and active twenty-three year old who showed no symptoms of NP-C until he reached fourteen years when his speech became slightly slurred and his friends started calling him ‘drunk’.
After a long period of assessment he finally received a diagnosis, three years after his doctor first realized something was wrong. Adam works part time and continues to remain as independent as possible.
Calum was diagnosed with NP-C almost two years after birth, even though symptoms were first noticed at three weeks old.
Calum’s mother shares her experience of having her son diagnosed with NP-C and how the family coped with Calum’s disease. Clinical Nurse Specialist Jackie Imrie explains the symptoms of NP-C and what can help families like Calum’s.
The Poincilit family story
Hanny and Christoph Poincilit have three children, Mathias, Alix and Zita, who have all been diagnosed with NP-C.
In this film, Living with NP-C, Hanny and Christoph describe the different symptoms that each of their children experienced as they were growing up; Mathias had learning difficulties and frequent falls which continued to worsen, Alix initially suffered hearing loss and then severe bouts of depression and Zita had some hearing and vision loss. After seeing numerous specialists but with no diagnosis, it was not until Alix saw a neurologist, aged 27, that she was eventually diagnosed with NP-C. It was at this time that Hanny and Christoph realized that Mathias, aged 30, and Zita, aged 22, also had NP-C and they talk about how this felt and the impact on their family.
In this film, Life after diagnosis, Hanny and her children describe the individual challenges they face on a day-to-day basis. The Poincilit family is supported by a multidisciplinary team of experts and Mathias, Alix and Zita have all started treatment. Their treatment regimen includes a disease-specific therapy, miglustat, which can have an impact on disease progression clinical parameters, and symptomatic therapies. Hanny also looks ahead to what the future may hold for her and her family.