Our main achievements
Pioneering Advocacy Support Service
The seeds of the MPS Advocacy Support Service so acclaimed today were sown over 30 years ago when the Trustees recognised that befriending and information whilst important were not going to make the difference needed for families of children; and young adults suffering from these devastating life-limiting diseases. From a single advocacy officer, back in 1986 funded by BBC Children in Need, covering the whole of the UK, the Society’s highly skilled advocacy team is now five strong and supporting over 1200 families and individuals in all aspects of social care as well as access to special educational needs and clinical management.
Supporting Clinical Care and Specialist Clinics
MPS, Fabry and related lysosomal storage diseases are complex conditions requiring considerable specialist management and treatment. In 1988, the Society helped to establish the first specialist team dedicated to the clinical management and treatment at the Royal Manchester Children’s Hospital led by Prof Ed Wraith with a grant of over £120,000. With this investment the MPS specialist outreach clinics were born. Families and individuals living with MPS no longer faced arduous journeys to Manchester; linking up with metabolic doctors in Belfast, Glasgow, Cardiff, Newcastle, Birmingham, Norfolk and Bristol families could see the Manchester team closer to home. Over the last 30 years, the MPS Society has invested over £2 million in the NHS to improve clinical care for babies born in the UK who will develop and be diagnosed with these life threatening and devastating diseases. Today the MPS Society is a member of NHS England’s Expert Advisory Group for Lysosomal Storage Diseases and works with health commissioners and government to set national standards on clinical care and treatment for those with MPS, Fabry and related Lysosomal Storage Diseases across the UK.
Patient Access to Clinical Trials
Learning from the MPS Society members’ experience of participating in two early clinical trials for enzyme replacement, in 2006 the MPS Society launched its ‘Clinical Trial Patient Access Programme’. The key objectives of this programme, which has been embraced by clinicians and the pharmaceutical industry alike, are to provide enhanced logistical support, including organising disability sensitive accommodation and travel; and timely reimbursement of expenses. Since 2006 the MPS Society has supported children and adults and their families on eight studies of durations of up to four years at five specialist centres in England. Whilst the majority of patients come from all corners of the UK and Europe others have travelled from South Africa and Australia. The MPS Society currently supports over 70 LSD children and adults on clinical trials in the UK, Europe and the rest of the world.
30 years of MPS Data
The MPS Society Registry is an on-going database that tracks demographic data, treatment options, some natural history data and patient reported outcomes (PROMS) from over 1200 MPS children and adults. It was initiated by the founding Board of the MPS Society over thirty years ago and as visionary as this decision was, little could the then Trustees have foreseen how valuable this MPS Registry would prove decades later. In the last 13 years with enzyme replacement therapy being clinically trialled and considered for marketing approval for MPS I, MPS II, MPS IVA and MPS VI the MPS registry has presented the most complete data set available worldwide. Whilst there are now product registries for Fabry, MPS I, MPS II and MPS VI the MPS Registry continues to serve the MPS community whether it be informing patients about clinical trial and focus group opportunities; supporting the pharmaceutical industry in clinical trial development undertaking PROMS ; and advising Healthcare Commissioners on patient cohorts.
Leading International Collaboration
In 1990 the MPS Society hosted an International Symposium on Mucopolysaccharide Diseases at the University of Manchester Institute of Science and Technology. Over 600 patients, their families, clinicians, researchers and scientists participated in this three day meeting that boasted a comprehensive, volunteer led children’s activity programme to enable parents to attend the symposium. This initiative was embraced by the MPS International Network of MPS Support Groups which was established by the UK MPS Society in 1984. This meeting continues to be held every two years around the world and in 2002 the UK MPS Society co-organised this meeting in Paris with the French LSD patient organisation, Vaincre les Maladies.
Embracing the wider LSD Community
One of the significant achievements of the MPS Society is using all its learning, experiences and tools to work collaboratively with a great number of agencies in the voluntary and statutory sector and at a governmental level. In April 2005 the highly specialised service for Lysosomal Storage Diseases was nationally designated by the Department of Health. This came about after eighteen months of lobbying by MPS members and the MPS Society in tandem with its advocacy team supporting families to appeal decisions by Primary Care Trusts not to prescribe life-saving enzyme replacement therapy and taking two decisions to judicial view. Achieving the nationally designated service which includes clinical management and treatment was not only good news for UK MPS patients but continues to influence decisions in Europe and beyond. Not complacent in 2012 when the New NHS Commissioning Board was introduced and the Advisory Group for Nationally Specialised Services was to be disbanded the MPS Society supported over 400 member families to set out their concerns to the Prime Minister, Deputy Prime Minister and their Members of Parliament. Certain reassurances by Government were received that confirmed funding of enzyme replacement therapy would not be affected by the introduction of NHS England and the Health and Social Care Act 2013.
Finding the Hunter Gene
The MPS Society funds world-class pioneering research that may translate into potential treatments or cures for children and adults with MPS, Fabry and related Lysosomal Diseases. But is not all about money. In 1988 responding to the need to find the X-linked gene that causes MPSII disease the MPS Society teamed up with Professor John Hopwood from Adelaide Women’s and Children’s Hospital. At the MPS National Conference Weekend at the Post House Hotel, Heathrow over 50 boys with Hunter disease and their mothers gave a small sample of blood. Eighteen months later and 10,000 miles away Prof Hopwood found the same complete gene deletion (a missing gene) in the blood of two of the boys. Thanks to Christopher Shorthouse and Robert Culley and all the others who gave their time and blood Prof Hopwood found the Hunter gene and published his findings for the benefit of the global academic community.
MPS Stem Cell Group 2006 – to date
Recognising there is considerable research strength in working in partnership the MPS Society with funding of over £1.5 million in 2006 established of the MPS Stem Cell Research Group following the appointment of Dr Brian Bigger. The objectives of the Group are to focus further on understanding the mechanisms of disease pathology in Mucopolysaccharidosis (MPS), development of more effective diagnostic tools for these diseases, and bringing about a generation of novel and clinically relevant therapeutic approaches to curing these diseases. This has included examining the potential of defined stem cell subsets from bone marrow to repopulate organs that are difficult to treat in MPS, such as the brain and bones.
Improving Haematopoietic Stem Cell Transplantation (HSCT) in MPS I Hurler Disease
The risks of haematopoietic stem cell transplantation (HSCT) to the MPSI Hurler patient are high due to the immune responses between the donor and patient cells so the Group are developing immunomodulators and T regulatory cells to achieve transplant tolerance using less severe chemotherapy. As HSCTs are not always successful first time, the Group have also been investigating the mechanisms of cell engraftment in MPS and how They can improve stem cell homing and engraftment.
Substrate Reduction Using Genistein
The Group has gone from strength to strength. Following the publication of preclinical data in the mouse model of Sanfilippo disease IIIB (MPS IIIB) showing significant delay in neurodegeneration and behavioural correction following high daily doses of the drug genistein aglycone delivered over a 9 month period the MPS Society currently has an appeal to fund a placebo controlled clinical trial using high doses of pharmaceutical grade genistein aglycone in 30 patients with MPS IIIA, B and C in Manchester.
The preclinical genistein publication is available for free from PLoSONE at the following link
Stem Cell and Gene Therapies for the Neurodegenerative MPS diseases
Progress is being made into the use of Gene Therapy as Sanfilippo (MPS III) mice are receiving their first gene therapy injections. The project entitled Long-Term Intracerebral AAV-hHGSNAT delivery in MPS IIIC mice is being led by Brian Bigger based at Manchester University and Alexey Pshezhetsky of Sainte Justine’s Children’s Hospital, Montreal. Dr Bigger has also recently developed a stem cell gene therapy treatment for MPS IIIA that it is hoped to bring to the clinic in 2016.