Metabolic Support UK works in partnership with lots of worldwide organisations to ensure that it is at the forefront of developments and can provide the best possible support to families and patients.
Here’s what some of our partners have to say about us:
“We have worked very closely with the charity for many years. They have provided such wonderful and kind support to our families when their children are diagnosed with a metabolic disorder. Their family educational meetings are always superb. They are commonly the only family network meetings available and so are very important. As Dietitians, my team at Birmingham Children’s Hospital are very happy to support Metabolic Support UK in any way we can.”
Professor Anita MacDonald OBE. Head of Dietetics, Birmingham Children’s Hospital
“Metabolic Support UK is an important collaborator on a research project investigating the applications of Next Generation DNA Sequencing for Newborn Screening. This study aims to establish whether genetic testing could be used as an initial or follow up test to help provide valuable additional information to existing Newborn Screening programmes. This study is being supported by Metabolic Support UK to ensure that patient and public opinion is being considered throughout the course of the research project.“
Clare Gladding (MSc, PhD) Research Project Manager, Sheffield Diagnostic Genetics Service
“Metabolic Support UK has been a valued partner in many developments in newborn screening and metabolic disease. Notably it played a key role in the development of expanded newborn screening and continues to collaborate in relation to research on the best ways to communicate with and support families with inherited metabolic disorders. Metabolic Support UK has been a real asset and friend within the metabolic community.”
Professor Jim Bonham, Division of Pharmacy, Diagnostics and Genetics, Sheffield Children’s NHS Foundation Trust
External Groups, Partnerships and Collaborations
Metabolic Support UK is involved in some innovative new networks, research groups and initiatives, bringing the voice of those affected by Inherited Metabolic Disorders to the forefront of discussion and collaboration.
EURORDIS is an alliance of 745 rare disease patient organisations from 65 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe.
By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services.
SSIEM; the Society for the Study of Inborn Errors of Metabolism is a worldwide network of specialists in different disciplines who are interested in Inherited Metabolic Disorders.
International Network for Fatty Acid Oxidation Research and Management (INFORM)
This is a group of stakeholders with an interest in all FODs and related conditions. Metabolic Support UK is the main patient advocacy group on the panel representing those who are affected and taking their voice to the centre of new research discussions.
INFORM has been formed in order to promote research and discussion into the cause, diagnosis, and management of inborn errors of fatty acid oxidation. INFORM will sponsor an inaugural symposium to be held in May in Boston in 2016, The Network will provide a collaborative framework for ongoing communication and research between the members. Please plan to join us and hear from the experts on topics that range from molecular pathophysiology to treatment strategies. INFORM is a new initiative but will take place from now on an annual basis. We are currently planning next year’s conference and Metabolic Support UK is contributing to the agenda. The Lead clinician is Gerard Vockley.
World Orphan drug Congress
(Washington April 2016). It is the original and premier event to address the strategic and commercial aspects of bringing new treatments to patients who suffer from rare diseases. It’s hugely important for Metabolic Support UK to understand the processes involved in research and drug production as well as licencing and the programmes available to patients to get early access to drugs. This is also a fantastic networking opportunity to develop links with clinicians, other patient group, specialists, researchers and industry, globally.
NGS NBS Sheffield
This is a research group looking into applications of Next Generation DNA Sequencing in Newborn Screening. There are two parts to the research; 1) Establish whether genetic testing could be used as an initial or follow up test, to help provide valuable additional information to existing NBS programmes. 2) to develop a database to understand more clearly how genetic changes are linked to patient symptoms with NBS disorders. The three year research project is ongoing until March 2018.
Project meetings take place regularly in Sheffield and the project is managed by Clare Gladding. The lead applicants are Anne Goodeve and Ann Dalton at Sheffield Children’s NHS Foundation Trust, which is supported by Health Innovation Challenge Funding from the Department of Health and the Welcome Trust. The project co-applicants are Jim Bonham, Mark Sharrard, Diana Johnson and Darren Grafham from Sheffield Children’s NHS Foundation Trust and Lindsay Weaver from Metabolic Support UK.
UKSC advisory board
This is a board that feeds into the UK Screening committee who make decisions about the conditions to be screened for in the UK. This is a lengthy and detailed process or gathering evidence for assessment. Metabolic Support UK’s role is crucial in providing the patient voice and experience. This board looks into the laboratories and pathways that can cause false positives or barriers and areas of development in the screening process. The UKSC are looking to improve the systems to ensure the patient has a better experience.
NICE highly specialised technologies Programme
Contains recommendations on the use of highly specialised technologies.
Metabolic Support UK has been involved in this process in regards to the drug created by Alexion, StrensiqTM (asfotase alfa) for Hypophosphatasia (HPP) and may be involved in the process for further treatments and other rare metabolic diseases. Metabolic Support UK’s main role is to raise awareness of the disease, gain patient experience of living with the condition, working on and contributing to quality of life assessments and ultimately to try to improve patient access to treatment.
HPP Scientific Advisory Board
This board is made up HPP stakeholders including Alexion, Global clinicians on HPP, Global patient groups for HPP and Head HPP Clinician from the UK is Wolfgang Hogler Birmingham Childrens Hospital.
The areas that the SAB focus on are
- Design of a registry
- Benefits of participation
There is now a treatment for HPP (still in the NICE process in the UK)
Health professional’s conference in Manchester
This conference has given Metabolic Support UK links to health professionals in areas of BME communities where we know IMDs are being diagnosed. In order to improve our support and our knowledge of other cultures and how they deal with diagnosis we plan to target these health professionals and provide them with the support to be able to educate families and to encourage them to seek support from Metabolic Support UK. This will be a key piece of work in 2016. The conference has provided us with a number of leads and health professionals have been keen to invite us to their forums, team meetings and training sessions throughout Birmingham and London.
Northern centre for Rare Diseases of The Skeleton NoRDoTS
This group consists of organisations and professionals from clinicians to researchers, with an interest in rare bone diseases. The group’s proposal is to establish a centre that provides integrated care from all those healthcare specialists engaged in the management of children and adults with rare bone diseases to both improve clinical outcomes now and act as a focus for transformative care in the future. The centre would be open to referral of patients from anywhere within the UK and Europe. Metabolic Support UK is the main patient advocacy organisation along with Patricia Osborne from Brittle Bones.
Horizon, Rareconnect and UCDs
Metabolic Support UK is to be the lead patient advocacy organisation on a new global online UCD community. Rare connect is already established as an online platform for other rare diseases. RareConnect includes disease-specific online communities that enable people living with rare diseases to meet, share stories and learn from each other. Communities are created in partnership with patient groups who bring resources such as moderators, relationships with specialists and validated information.
For more information on Urea Cycle Disorders including emergency guides visit The British Inherited Metabolic Disease Group
For useful guides for you and your family or if you are a professional needing more information please visit the European Inherited Metabolic Disease Group
Same but Different
Same but Different is a community interest company that uses the arts to raise awareness of disability and counteract prejudice. The idea is to encourage people to look beyond first impressions. The organisation also provides signposting to support organisations like ours.
British Inherited Metabolic Disease Group