Our History

We are very proud of our history; one which has humble beginnings dating back to 1991…it was then that a small group of parents decided that together they could do more to offer care, support, and information to other families affected by all types of Niemann-Pick diseases.

Since our inception we have went from strength to strength; we were granted charitable status as an independent charity in 1997, and in January 2012 (whilst remaining a registered charity), we changed our unincorporated charitable status to that of a charitable company limited by guarantee.

Below you’ll find just a few of our historic dates of which we are so proud…but here’s to hoping there will be many more to come in the future!

We are very proud of our history; one which has humble beginnings dating back to 1991…it was then that a small group of parents decided that together they could do more to offer care, support, and information to other families affected by all types of Niemann-Pick diseases.

Since our inception we have went from strength to strength; we were granted charitable status as an independent charity in 1997, and in January 2012 (whilst remaining a registered charity), we changed our unincorporated charitable status to that of a charitable company limited by guarantee.

Over the last twenty years, we have seen major developments within the Niemann-Pick diseases world, with advances in technology and increased knowledge and understanding bringing heightened interest and awareness to this group of diseases…which in turn has meant we can do more for the individuals affected by Niemann-Pick! However we do still rely solely on membership fees, voluntary donations, fundraising events and charitable grants for our income. Without this funding we wouldn’t be where we are today. In the video below, NPUK Founder & Former Trustee Jim Green explores both how NPUK came to be and how there are positive signs for the community going forward:

Below you’ll find just a few of our historic dates of which we are so proud…but here’s to hoping there will be many more to come in the future!

• One of our short documentaries, Invisible Interviews: Graham’s Story, was nominated and then shortlisted as a finalist at the Smiley Charity Film Awards 2024, the “Oscars of the Third Sector” and the biggest cause based film event in the world. Graham (NPC) attended the prestigious event in Leicester Square along with his wife Ciara, and although the win evaded us this time it served as a great chance to network and raise awareness, and provided a much larger platform on which to engage the public.
• A film we helped develop as part of the UK LSD Collaborative, A Rare Find, was also shortlisted and won Gold in its category (Longform under £100k turnover)

• After the challenges of COVID-19 lockdowns and social distancing, we were overjoyed to return to our much-loved Annual Family Conference & Interactive Workshop on Niemann-Pick Disease at our home away from home, Wyboston Lakes Bedfordshire.

• Release of our now multi-award winning NPUK/INPDA short film, Invisible Manners, which was created during COVID lockdowns with the help of animator Lingxi Zhang, and both community and celebrity (Billy Boyd, Isy Suttie, Weruche Opia), to bring light to rare diseases with “invisible” symptoms, including Niemann-Pick.

• Due to the challenging and unprecedented nature of the global COVID-19 pandemic, our support service changed massively in 2020 – in order to support our families, and also inform, and entertain, we developed the Social Not Distant Campaign. This weekly schedule (including Zoom webinars, interactive fun video series, crafting/activities, and much much more) kept our community engaged and most importantly in contact with one another!
• Develop and release the “Coronavirus Emergency Response Fund” in collaboration with The Hollie Foundation. The aim of this limited fund was to assist those experiencing hardship or unexpected expense as a direct result of the Coronavirus pandemic, which had a huge impact on the physical and mental well-being of our community. A total of £12,500 was designated to the Fund, enabling grants of up to £200 per individual/family.
• After almost 10 years of dedicated service, our Senior Families Advocate Elizabeth Davenport left the NPUK team for pastures new. She remains an advocate for our charity!

• Release of NPUK short film, Go Make Memories. The experiences of the individuals and families affected by NPD takes centre stage in this production, which has been developed by Director/Producer Carl Mason and NPUK Communications Officer John Lee Taggart, in direct collaboration with the lovely individuals and families our charity, NPUK, represents.
• Karen Thomas joins the NPUK team as our new Families Officer, bringing a wealth of experience to the role.

• Niemann-Pick UK welcomed a huge rebrand, which included a new website (www.npuk.org), a new logo, a shortened paraphrased name in NPUK, and an extensive social media strategy.
• We celebrated our 25th birthday as a charity together at the Annual Family Conference and Interactive Workshop at Wyboston Lakes, Bedfordshire.
• Thanks to a 5 year grant from the ‘Big Lottery’ we were able to welcome Louise Metcalfe to the team as a Project Team Leader. Louise will help us ensure that we keep on track with the grant, which aims to deliver more support to those individuals and families affected by Niemann-Pick disease (ASMD or NPC).
• To assist with the significant re-brand and to bolster our social media output and performance we also welcomed John Lee Taggart to the team at the NPUK Central Office in the role of ‘Social Media and Communications Officer’.

• Oscar Chen, a final stage PhD student working in Prof. Fran Platt’s lab at the Department of Pharmacology, University of Oxford, won the Peter Carlton Jones Award in 2013. Before joining Prof. Fran Platt’s lab, he worked on Niemann-Pick type C1-Like 1 (NPC1L1) protein and cholesterol metabolism while he did his MSc research project.

• The deserving winner of the Peter Carlton Jones’ Memorial Award Winner 2012 was Danielle Taylor te-Vruchte, a Research Assistant in Professor Fran Platt’s lab in the Department of Pharmacology at the University of Oxford.

• We were proud winners of the GlaxoSmithKline IMPACT Award, and were subsequently presented with £25,000 for our “outstanding work as a healthcare charity.”
• We provided grant funding to Cardiff University for a project to study the mechanisms by which Miglustat provides benefit in NP-C1 patients.
• We appointed a new Families Officer, Elizabeth Davenport, (links to ‘Meet Our Team’ section) to give non-clinical advice and support to families affected by Niemann-Pick disease (ASMD or NPC).
• We gave grant funding to the University of Oxford to investigate potential biomarkers for the action of Cyclodextrine on NP-C patients; with the view to helping inform the most appropriate route for the administration of cyclodextrin.
• Benjamin J. Stewart, from the University of Oxford, was presented with ‘The Peter Carlton Jones Memorial Award’ for his work in demonstrating that cholesterol is the primary offending metabolite in NP-C 2 disease and that combining relatively cheap therapies may help to improve the quality of life for patients affected by NP-C2 disease.
• Jim Green stepped down after 20 years as chairman…during which time he guided the group from its humble beginnings to an internationally recognised family support and healthcare charity. But don’t get too upset! As Jim still serves as the current president of the INPDA – an organisation we work closely with on a daily basis.
• Whilst retaining charitable status (Registration Number: 1144406) we, Niemann-Pick Disease Group (UK), registered ourselves as a private company limited by guarantee on the 15th September 2011 (Registered in England and Wales, Number: 07775835).

• We decided to alter the position title of ‘National Development Manager’ to ‘Executive Director’ in order to outwardly better reflect the importance of the role.
• With a view to providing more information to families we added a monthly e-bulletin to our publication schedule – this way we can keep you posted regarding any and all new updates!
• We were overjoyed to be awarded a grant of £172,601 over three years from the Big Lottery Fund; ‘Reaching Communities Programme for its Interactive Family Support project.’
• ‘The Peter Carlton Jones Memorial Award’ was presented to Sarah Pressey from King’s College London for her PhD in characterising what happens in the NPC affected brain.

• A further grant from ‘The Roald Dahl Foundation’ was given to part fund the travel expenses of the Clinical Nurse Specialist for her work with both affected families and health professionals.
• This year ‘The Peter Carlton Jones Memorial Award’ was shared by Steven Knight from the Genetic Medicine department of St Mary’s Hospital for his work in developing a practical approach to Mutation Analysis in NP-C, and Dr. Barry Boland from Trinity College, for his research into NP-C1 and his subsequent conclusion that neurodegeneration in the NP-C1 brain shares similar hallmarks with degenerating neurons from an Alzheimer’s disease brain.
• Launch of the ‘Hope for Hollie’ e-forum to increase awareness of Niemann-Pick diseases, and to also enable families to provide support to each other.
• Our Research Nurse supported the application by Actelion for marketing approval of Zavesca.
• Together with the NNPDF we jointly hosted an international meeting of NPD patient support groups, which resulted in the formation of The International Niemann-Pick Disease Alliance (INPDA) – a global collaboration of non-profit patient support organisations with a common goal; to help those affected by Niemann-Pick diseases.

• We received a grant from The Roald Dahl Foundation to part fund the travel expenses of our Clinical Nurse Specialist whose role regularly requires her to visit affected families and health professionals across the country.
• In support of a study on Purkinje cells we granted funding to the University of Oxford, and when a subsequent application to the NNPDF was successful, we managed to secure this valued research for a further two years.
• ‘The Peter Carlton Jones Memorial Award’ was presented to Alexander Lewis from the University of Oxford for his work in developing a drug-like blocker called Ned-14 that caused storage in lysosomes. This was highly valued by everyone at NPUK as developing further drug-like “activator” chemicals may lead to treatments for NP-C in the future!

• We received grant funding from The Foyle Foundation to part fund the posts of Clinical Nurse Specialist, National Development Manager and Administration Officer.
• In 2007 ‘The Peter Carlton Jones Memorial Award’ was shared by Daniel Witter from the University of Oxford for his work on the comparison of NPC neuropathology compared with that found in Alzheimer’s Disease, and Jinzhi Zhang from the University of Bath for both her work in identifying whether cholesterol is involved in early pathogenesis of NPC1, and also for her development of a new screening test utilising lysotracker green for all lysosomal storage diseases.

• In 2006 we employed a ‘Clinical Research Nurse’ to better enhance the work of NPUK by supporting relevant clinical trials, and also providing data for defining the natural history of the diseases.
• First clinical trial of Enzyme replacement therapy for NPB starts at Mount Sinai School of Medicine, New York.
• We allocated interim funding to the Oxford University in order to enable continued work on monitoring patients receiving substrate reduction therapy. The funding was scheduled for three months research which allowed time for a further grant from the NNPDF, as well as the main grant from the Action Medical Research to be approved.
• The very first ‘Peter Carlton Jones Memorial Award’ was presented to Emyr Lloyd-Evans from University of Oxford for his research proposing that correcting lysosomal calcium deficiency may provide a new approach to therapeutic intervention in NPC1.
• We were nominated for the Communiqué Patient Association of the Year Award and were very pleased to receive a commendation as runners up.

• We received continued funding from ‘Children in Need’ part fund the post of Clinical Nurse Specialist for a further three years.

• Working in collaboration with the US NNPDF, we granted funding to CASE Western University, Cleveland, Ohio, in support of a study into similarities of cell signalling between NPC and cystic fibrosis. This work was aimed at establishing preliminary data to enable a proposal for a larger study to be made.
• We launched our (then new) website at www.niemann-pick.org.uk

• Core funding from the Department of Health enabled us to employ a ‘National Development Manager’ to take NPUK forward for the following three years.
• The first central office was set up in the home of our ‘National Development Manager’ (Washington, United Kingdom).

• We facilitated the start of the first clinical therapy trial of Miglustat (OGT918) for NPC at the Willink Biochemical Genetics Unit in Manchester. Miglustat, now marketed as Zavesca©, was developed by Oxford GlycoSciences and is produced by Actelion Pharmaceuticals.
• We began preliminary work on developing an International Niemann-Pick Disease Alliance (INPDA); a way for patient groups across the world to co-operate together.

• Funding from the National Lottery Charities Board enabled us to fund research into the feasibility of gene replacement therapy for Niemann-Pick Disease Type C. This research was carried out at Addenbrookes Hospital in Cambridge, and was set to run for a total period of three years.
• Thanks to a partnership grant from the Alzheimer’s Society we were able to employ a part-time administrative assistant. Whilst this initially covered set up costs, running costs and salary for one year, the Alzheimer’s Society very kindly agreed to continue this funding until 2005.
• We circulated information flyers to all NHS Trusts in the UK to raise awareness of Niemann-Pick disease(s).

• A grant from the Children In Need enabled us to fund the salary of a Niemann-Pick Support Nurse.
• In collaboration with the National Institutes of Health (USA) and three other international Niemann-Pick organisations, we co-funded the First International Scientific Conference on NPC.

• Our very first NPDG (UK) website pages were set up thanks to valued help from the National Niemann-Pick Disease Foundation.
• We appointed James Anderson & Co. as our group’s auditors.
• We printed our first professionally printed annual report.
• And we also produced our first professionally printed “glossy”newsletter.

• We were granted charitable status as an independent charity: The Niemann-Pick Disease Group (UK), registering as a charity on 16 April 1997 – (Registered Charity Number 1061881).
• We invited Dr. Eugene Carstea to our annual family conference where he made the first announcement of the successful cloning of the NPC gene.
• Thanks to a grant from Esso’s Community Action Award Scheme we were able to update the information on our leaflets to better inform our readers.
• We held our first regional family support meeting, which was a great success!
• Dr. Guy Beasley agreed to be our charity’s Scientific Advisor.
• We appointed six highly distinguished patrons for our group.

• We sponsored Dr. Guy Beasley to visit the National Institutes of Health, Bethesda and Mount Sinai School of Medicine (New York), to gather information and forge links with NPD researchers.

• The Clinical Centre for Niemann-Pick Disease at the Willink Biochemical Genetics Unit of The Royal Manchester Children’s Hospital was put into development to better serve and inform both affected families and health professionals alike.

• Dr. Ed Wraith agreed to be the charity’s Medical Advisor.
• We produced and circulated our first information leaflet.

• The Research Trust for Metabolic Diseases in Children (now CLIMB) worked in collaboration with NPUK to form a Management Committee.
• Our very own Jim Green was elected as chairman of the newly formed RTMDC Niemann-Pick Disease Group.

• We sent the first Niemann-Pick Support Group newsletter to families affected by the disease(s), and subsequently collected information to form the basis of a family directory in order to better meet their needs in the future.
• We were kindly offered initial support, as well as a small starter grant, by Contact a Family.  Also details of our group, NPDG (UK), were included in the new Contact a Family Directory.

• Ten families affected by Niemann-Pick Disease (types A, B & C) attended a satellite seminar titled “Niemann-Pick Disease” at the Research Trust for Metabolic Diseases in Children Conference at the University of Keele – the seminar was presented by an expert on the subject; Dr. Marie Vanier.
• In what was a momentous occasion, we brought together families affected by NPD…which marked the first time that each of the families had ever met another family affected by the disease(s). In fact, most had been told that Niemann-Pick was so rare that they were likely to be the only family in the country with the disease(s)! Susan Green (parent of two children with NPC) chaired the seminar and, at the request of the families, agreed to contact everyone following the meeting with a view to forming a parent support group in the future.