1. Niemann-Pick UK Breaking Down Barriers Louise Metcalfe and Steve Neal
Birmingham 13th September 2017
Introductions
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

2. NPUK What is Niemann-Pick Disease?
A group of rare, metabolic conditions that are pan-ethnic and affect all age groups
Autosomal recessive inheritance
Part of the group of Lysosomal Storage Disorders.
Three commonly recognised forms; Types A, B and C.
Types A and B are a continuum of the same disease, known as Acid Sphingomyelinase Deficiency (ASMD), prevalence estimated as 1:250,000
Type C is genetically and biochemically different prevalence estimated at 1:100,000 in Western Europe
Group of rare, metabolic conditions that are pan-ethnic and affect all age groups – currently supporting 130 patients, 16% or 29 from a BME background.
NP types A and B represent opposite ends of a spectrum of the same disease.
ASMD Type A is a severe neurological disease that normally reveals itself within the first few months of a baby’s life, results in failure to thrive and a progressive loss of motor skill, leading to premature death, usually before age 5
We are currently supporting 2 type A children and their families in the UK
ASMD Type B –In NP-B there is generally little if any neurological involvement, the condition causes the storage of lipids- particularly in the liver, spleen and lungs
Growth rate may be slow and puberty is often delayed, but patients generally survive into their teens and adulthood.
Symptoms include an enlarged spleen and liver. and most patients will develop storage in the lungs, resulting in respiratory disease
Many also experience cardiovascular problems and bone disease.
NPUK is working with 29 type B families at present (12 children, 17 adults)
Type C is a neurologically degenerative condition, life expectancy varies considerably.
Presentation is variable, with a wide range of often challenging symptoms, making it difficult to diagnose.
Onset may occur at any time from infancy to adulthood. We have patients ranging in age from birth-64 years
Symptoms include an enlarged spleen and liver prolonged jaundice at birth,
ataxia, dystonia, dysarthria ,dysphagia,
psychiatric disturbance and dementia
May experience cataplexy and epileptic seizures which are difficult to control.
Vertical Gaze Palsy is particularly suggestive of NP-C.
We are currently supporting 99 patients with NP-C and their families 50% of UK patients are adults
Recently we have seen our adult NP-C population increase, as diagnostic techniques improve and awareness of the condition is raised – partly due to our Think Again campaign, Think NP-C campaign.
Thanks to our networks and relationships with each of the UK specialist centres, we are able to reach the majority of those diagnosed and offer support in line with the family's needs and wishes.
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

3. NPUK Who is NPUK? Making a difference for the Niemann-Pick community
So who is NPUK?
NPUK is a small national charity that provides support, advice and information to patients affected by this group of diseases, their families and the professionals involved in their care.
We provide a supportive community, aiming to reduce feelings of isolation and despair that can often accompany a rare disease and, to ensure that our community is able to access the best possible clinical care, treatment and practical/social support that will meet their needs in a timely way.
NPUK was established in 1991, by these lovely people, Jim and Susan Green, following the news that two of their three children were affected by NP-C.
They were told that they were the only family affected in the UK, not believing this, Susan set about writing letters– remember at this time there was no internet or ! - to health, research and academic institutions across the World
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

4. NPUK Who is NPUK? Making a difference for the Niemann-Pick community
Susan’s efforts paid off and our first connections were made with Profs Ed Wraith, here in Manchester Marc Patterson, at the National Institutes of Health in the USA and Marie Vanier in France plus Dr Peter Pentchev and Dr Gene Carstea – who went on to contribute to the discovery of the NPC1 gene on Chromosome 18 in 1997.
The small group that formed in 1991 slowly grew and today NPUK is governed by a Board of 9 Trustees, has 7 staff members and 25 regular volunteers.
Everyone involved is passionate about their work and committed to improving life experiences for all those affected by NPD.
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

5. NPUK What do we do? Care, support and advocacy
Accurate, up to date information
Expert advice - dedicated Clinical Nurse Specialist
Practical and Emotional Support
Reduce social isolation
Families Officers (non-clinical support)
NPUK Central Office Team: 24 Hour Help-line
Awareness
Interactive Support, strong social media presence
Mutual support networks and opportunities
Annual Family Conference
Our organization has the widest experience of supporting NPD patients and their families in the UK.
Over the last 26 years, NPUK has worked with many families who have faced the challenges of this disease; our aim is to make a positive difference to all those affected and their families through our care, support and advocacy services.
We give emotional as well as practical help and advice, provide accurate and easy to understand information and facilitate relevant research.
We provide a wide range of services including a dedicated clinical nurse specialist who works alongside the teams at the eight UK designated LSD specialist centres
We have developed strong mutual support networks, through our individual and group work with families and many of those involved with our Charity refer to it as their “Niemann-Pick family”
We are currently working to develop the services we offer to better support ‘harder to reach’ groups, such as members of the BME community, dads and siblings.
We also raise awareness, with health, education and social care professionals and the general public.
For example, last year we launched a YouTube Channel with a number of short films explaining NPD from different perspectives
For a small charity we have been told that we ‘punch above our weight’ – we have extensive contacts and networks within our field, and as a professional organisations we now find our work is respected worldwide, and that we are included in many high level discussions about the future of patient care and treatment.
We can see the impact of our work in the way families and professionals interact with us; they feel comfortable and confident in contacting us and in knowing they will receive the help and information they need to meet their needs.
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

6. NPUK Facilitating Research Promote, encourage and facilitate research
Develop and nurture relationships:
- Research and clinical institutions
- Industry
- Like-minded patient groups
- Stakeholders and influencers
Interactive Workshop on Niemann-Pick Disease
Annual Trustee Memorial Award
Small seed grants and bridge funding
Projects funded at Oxford, Cardiff, Sheffield and UCL
Key role in many NPD research collaborations
Facilitating progress towards therapeutic interventions is central to all we do.
NPUK has developed strong relationships and networks across the world – including but limited to patients groups, industry, researchers, enabling is to play a key role in encouraging and facilitating many research projects and collaborations, and more recently to be actively and appropriately engaged in bringing clinical trials to the UK.
We provide an annual award of £1000 in response to the submission of a ‘research project’ which provides an original contribution to the scientific or public understanding of the Niemann-Pick diseases and/or their treatment or cure.
This approach encourages interest amongst young researchers and since its launch in 2005, we have made over 20 awards, with many of the recipients retaining their interest in NPD as they move through their careers.
In providing additional research grants, our focus is usually to provide funding for smaller items– such as equipment or consumables – to assist projects that are already in receipt of funding or to bridge a gap in funding, although we do consider larger requests.
Research into NPD and other rare diseases increases the chance of finding treatments and cures for more common conditions and other neurological and degenerative conditions
With NPD now generating extensive scientific interest and with links to a number of more common diseases – including Huntington's Parkinson's, our research contacts and networks are broadening and we have increased opportunities to collaborate.
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

7. NPUK International Niemann-Pick Disease Registry Global NPD Network
14 Member countries
4 Associate members
NPD Specific Registry
Patient owned and led
Developed over a three year period
Collaboratively Funded
Patient Reported Data
Clinical Dataset
Retrospective Data
One example of a successful collaborative effort making a difference is the INPDA
NPUK is a founding member of the INPDA - an alliance of 14 Niemann-Pick Disease non-profit organisations from around the world.
The INPDA acts as a global network to exchange information, experiences and knowledge about Niemann-Pick diseases. By sharing information and maximising communication we can help each organisation to use their time and resources efficiently and effectively.
There is an increasing need for clinical data to support research, to provide information regarding the natural history of NPD and to assist in identifying and recruiting patients for clinical trials.
One of our key projects over the last three years has been the creation of the International Niemann-Pick Disease Registry,
which is owned and managed by the INPDA and which, has the power to increase knowledge and understanding of NPD through the collection of much needed patient data on a global scale.
The INPDR is a collaborative disease-specific registry (ASMD and NP-C) and has support from professional partners including patient groups, clinicians, scientists and researchers involved in the care of patients affected by Niemann-Pick diseases.
It has been developed over a three year period (by 11 Partners in 7 EU Countries plus 17 international collaborators and has been co-funded by an EU grant.
The INPDR has two data sets - clinician entered and patent self-reported - and we currently have over 300 patients enrolled to date.
Additionally this project has attracted the interest and support of both the FDA and the EMA.
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

8. NPUK Working Collaboratively
To make further progress for rare diseases we need a joined up approach, we can’t go it alone.
We need to work together with those in leadership across patient advocacy, industry, policy makers, health and social care professionals and the science and research communities.
NPUK works with many organisations, some you can see here and there is also industry, NHS England, NICE, the government and many others, to advance our cause.
In today’s uncertain economic climate, with changes to health and welfare systems plus cutbacks in local service provision
all having a negative impact on patient care, there is much that could be done to improve experience and life outcomes for rare disease patients.
There is also a need to support the development of innovative therapies for unmet medical needs.
This makes sound sense economically, clinically, scientifically and for all those affected by rare conditions that are in need of high quality care and support
By working together we maximise the scarce expertise and resources that exist in this field and ensure that patients and families affected by rare diseases receive a timely and appropriate response to their needs, wherever they happen to live in the UK.

9. Shaping our Future Together
5 Year Big Lottery funded grant for £447,108 allows us to help more people affected by a NP diagnosis, especially the increasing number of adults diagnosed with NP-C after our ‘Think Again, Think NPC’ campaign.
On-going practical and clinical work and support.
Reach out to the newly diagnosed.
Understand the needs of the BME community, Dads and Siblings.
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

10. Shaping our Future Together Our 4 Outcomes
The mental wellbeing of adult, newly diagnosed and hard to reach patients and families will be improved.
Patients and families will benefit from increased emotional resilience in coping with the impact of disease progression.
Patients and families will have increased knowledge and self-confidence when dealing with health and statutory services.
Families in crisis will have greater access to statutory services through the intervention and support services provided by NP-UK.
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

11. Shaping our Future Together Who will we help?
58 affected patient children
116 parents and carers
84 siblings
63 adult patients
32 children of adult patients
225 other family members
578 people in total
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

12. Understanding our BME Community
We want to build relationship and trust from diagnosis onwards so more BME families to attend our events and use our support services – reducing isolation.
We want to develop community specific literature, devise video resources – including genetic and bereavement counselling.
Both our Clinical Nurse Specialist and Families Officer have developed links with a number of BME patients and their families and around a quarter of our families we are currently in regular contact with are from a BME background. We think about 16% of the total number of NP patients, known to us, are from a BME families.
All our outcomes are relevant to our BME community but in particular, in Outcome 1, we want to improve the mental wellbeing of adult, newly diagnosed and hard to reach patients and families. We hope that 20 people a year will be integrated into our community and feel less lonely and isolated as a result.
Over the five years of our lottery project, in summary, we want to work with BME families to develop and distribute community specific literature, devise video resources and help more BME families to attend our events and use our support services.
In our submission to the BIG Lottery, we said we would
Produce an internal publication on the customs/practices of different cultural groups;
Build relationships, trust and respect through initial contact at clinics, follow up by phone, ;
Develop new resources including Plain English publications (as opposed to translated publications);
Provide genetic counselling;
Seek follow-up visits in the house or venue of family choice;
Bring families into the community in appropriate ways (e.g. co-producing literature for others in their community).
As an organisation we want to further our understanding of the customs and practices of different cultural groups to help us in our work with our BME families. We aim to build relationships, trust and respect through initial contact at clinics and subsequent follow up visits, support etc. Our genetic and bereavement counselling work is relevant here too. We know that BME families are less likely to access our services and research indicates that barriers to access, for both diagnosis and treatment, are exacerbated by geographical and cultural marginalisation.
Making a difference for the Niemann-Pick community
©2016 Niemann-Pick UK (NPUK)

13. Project Team Leader, NPUK T. 0191 415 0693
Louise Metcalfe
Project Team Leader, NPUK T
Steve Neal
Project Families Officer, NPUK T
Niemann-Pick UK (NPUK)
Suite 2, Vermont House
Washington
Tyne and Wear
NE37 2SQ, UK
T (0)
Registered Charity:
England and Wales ( )
Scotland (SCO45407)
Please visit
npuk.org
For the most up-to-date information
©2016 Niemann-Pick UK (NPUK)
Making a difference for the Niemann-Pick community