Beyond the Stigma

Niemann-Pick UK is a small but agile organisation dedicated to making a positive difference to the lives of those affected by Niemann-Pick diseases. It is globally recognised for its world class communications, strong advocacy networks, and high impact partnerships with relevant stakeholders.

More broadly, NPUK offers care, support and information to families affected by Niemann-Pick diseases from diagnosis to bereavement and beyond and raises awareness in the hope of facilitating research and potential therapies.

Their vision is a world where the burden of these diseases is minimised, where those affected have access to effective therapies, can meaningfully participate in society, reach their full potential, and achieve the best possible quality of life.

The work they do is funded entirely through fundraising activities and successful grant applications. They have dedicated support from their much-valued community members, benefactors and volunteers who work in support of the charity.

Niemann-Pick diseases are a group of rare, progressive, inherited genetic conditions that can affect both children and adults, for which there is no specific treatment or cure. The conditions affect the body’s ability to break down and use fats, such as cholesterol and lipids, inside cells. Because of the build up of fats, these cells don’t work as they should, and, over time, the cells die, and the disease leads to a gradual loss of function of nerves, the brain, and other organs.

In 1991, ten families, most of whom had been told that Niemann-Pick disease was so rare that they were the only affected family in the country, were brought together at a satellite seminar titled ‘Niemann-Pick Disease’. The seminar, at the Research Trust for Metabolic Diseases in Children Conference at the University of Keele, was presented by Dr. Marie Vanier, an expert on the subject,

This was the first time that each of the families had ever met another family affected by Niemann-Pick. They decided that they could do more together to offer care, support, and information to others affected by Niemann-Pick diseases and following this meeting they formed a parent support group. The Research Trust for Metabolic Diseases in Children (now Metabolic Support UK - MSUK) continued to collaborate with them to form a management committee and the Niemann-Pick Disease Group – now NPUK - was formed.

The group went on the produce the first information leaflet on the diseases along with Dr. Ed Wraith the charity’s first medical advisor. Over the last 32 years, they have developed valuable insights into living with this condition and the challenges it presents. Their services are not replicated by any voluntary or statutory body, but are complementary to such services, aiming to fill gaps where they exist.

Today, the NPUK community is encouraged by the sheer amount of work and interest in the field of Niemann-Pick diseases. There is now one approved therapeutic intervention for Niemann-Pick type C, and five more in clinical development or progressing through the regulatory process. However, the level of unmet need within our community remains high, and the need for advocacy support has never been greater.

Toni Mathieson, CEO of NPUK, said, ‘The slow speed of research and trials is a constant frustration for our community – time is of the essence in a progressive, degenerative condition that has such devastating consequences. We actively monitor and engage in global research activities and attend key events including the National Niemann-Pick Disease Foundation Family Conference, the Ara Parseghian Medical Research Conference, and the WORLD Symposium to keep our community informed of the latest developments. These opportunities allow us to gather cutting-edge information, share knowledge, and, most importantly, build strong relationships with global advocates, scientists, and industry leaders.”

Recently, NPUK has been involved in the National Institute for Health and Care Excellence (NICE) appraisal of Xenpozyme (Olipudase Alfa) as a formal consultee. Xenpozyme, developed by Sanofi as a treatment for acid sphingomyelinase deficiency (ASMD) Niemann-Pick disease type AB and type B, is already approved in many countries around the world.

In March 2024, NICE announced their decision not to recommend Xenpozyme, citing this decision was due to uncertainties in the economic model. In addition, the cost-effectiveness estimates are higher than is usually considered acceptable for use of NHS resources for highly specialised technologies, even after considering the decision to apply additional weight to the effect of the drug on quality and length of life. In reality, it is too expensive.

NPUK appealed against this decision, which would mean ASMD type AB or type B patients in England and Wales would not be able to access Olipudase Alfa through the NHS. This would result in best supportive care being the only treatment option available to patients. Best supportive care is focused on managing symptoms and helping to keep patients as well as possible when there are no specific or disease modifying treatment options available. For ASMD patients, best supportive care is both complex and costly and does not prevent disease progression.

NPUK’s advocacy efforts secured an appeal hearing in May this year, and the result was made public on Wednesday 24th July. The appeal panel upheld the appeal on point 1(a)2a with the case referred back to NICE for further consideration. However, there is still a pressing need for NPUK’s efforts to continue, and they are reaching out to key stakeholders, expressing concern on behalf of the ASMD community and doing all they can, through the appropriate channels, to influence change.

NPUK wants to see effective treatments approved for use in all types of Niemann-Pick diseases, at prices that are affordable for our health system, but with the appropriate flexibility within that system to consider the highly complex nature of developing medicines for our ultra-rare diseases.

NPUK’s support of research and therapy development has been an integral part of their strategy since day one; Toni explained: “Over the years, the networks we have developed have been instrumental in shaping our research strategy and expanding our role in collaborative research efforts. Our involvement with the International Niemann-Pick Disease Registry, of which we are a founding member, is just one example of our commitment.”

‘We also provide research grants to academic institutions, encourage interest through the Peter Carlton Jones Memorial Award, and support the next generation of scientists through the William French Memorial Award. Our annual “Interactive Workshop on Niemann-Pick Diseases” offers a platform for UK and international professionals to share the latest advancements in clinical management, research, and potential therapies.

‘As well as supporting fundamental research, we believe that the patient and community voice is essential to the successful development of new therapies. Working in partnership from an early stage, we can actively and effectively represent our community, ensuring their needs and experiences are recognised and integrated throughout the process.’

NPUK actively works to raise awareness about the harmful stigma associated with rare diseases and disabilities, extending beyond Niemann-Pick disease type C to include all minority groups affected by these challenges.

As part of this effort, they are producing a new short documentary titled 'Beyond the Stigma'. The film features an interview with Ebony Samuda and her son, Amarii Newland, members of the NPUK community. Ebony, who proposed the idea during NPUK's Annual Family Conference, wanted to create a documentary that challenges negative labels and misconceptions.

In the interview, Ebony candidly shares her experiences, addressing the questions and judgments she faces about how she raises her son—why she takes him out, how she dresses him, and whether she's concerned about others' opinions. Her response is resolute: "Absolutely not. That’s my boy."

The stigma runs even deeper when people suggest that his disease is the result of parental karma, or when they question the family's religious beliefs, advising them to wash him in Holy water and pray over him. "It’s genetic, it’s not curable. I don’t know where these stigmas come from, but it’s not just in the Caribbean community... I have friends in other minority groups who have experienced the same thing."

The film directed by John Lee Taggart, NPUK’s head of communications, features narration from actor Francis Lovehall. John also wrote and directed a short documentary ‘Screening Saves Lives’ narrated by Robert Webb on behalf of the Newborn Screening Collaborative (an accompanying informative piece to ‘A Rare Find’).

The aim of this initiative was to raise awareness and ensure the UK government sees the benefit of adding more conditions to the UK newborn screening programme. Currently the blood spot/heel prick test checks for nine rare conditions in the UK, far less than many other high-income countries. Italy for example, screen their babies for 43 conditions, Iceland 47, and the US up to 59.

This film was made possible thanks to the support of 16 rare disease charities from the Newborn Screening Collaborative, who together are campaigning for parents to ‘Test early to Treat early’ and, ‘speak up for those who don't yet have their voice’.

Families affected by rare conditions often have to endure long and challenging journeys to achieve a diagnosis. In which time health, wellbeing, and outcomes are made worse.  Earlier this year, Tyrosinemia 1, was approved for screening, after years of lobbying from multiple stakeholders including the Collaborative, showcasing the importance and need for such efforts.

While there is no known cure for Niemann-Pick diseases, and no way to prevent it, as it is entirely hereditary, early diagnosis and appropriate treatment may improve life expectancy for some people living with types A/B, B or C.

John said, ‘Documentary filmmaking feels like the most natural and impactful way for me to share the stories of people with Niemann-Pick diseases because of my deep, personal connection to this community. After working with Niemann-Pick UK for 8 years, I've not only gained insight into the complexities of the disease but also formed genuine friendships with many of the families affected. These relationships have shown me the profound strength and resilience that often go unnoticed in everyday conversations.

'Through documentaries, I can bring these stories to life in a way that feels both intimate and powerful, but also doesn’t break the bank for a small charity! The medium allows me to capture the emotions, challenges, and small victories that define living with Niemann-Pick diseases. It's not just about conveying information - it's about sharing the human experience in a way that viewers can truly feel.’

And it’s not only John using this medium to raise awareness. NPUK community member Graham Kirk, an adult living with NPC, recently won the Best Education Film award for the short documentary ‘Invisible Interviews: Graham’s Story’, at the Cannes Film Awards 2024, which was made on a limited budget in-house. Graham also serves as an Ambassador for the International Niemann-Pick Disease Registry (INPDR), where he plays a key role in supporting community engagement and emphasizing the importance of patient experiences in advancing research.

For more information, please visit http://www.npuk.org
@newbornscreeningcollaborative

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