RDUK Newsletter, August - September 2011
Dear RDUK member,
Please see below the latest updates from us and relevant information from our members. Please remember to get in touch if you would like to include anything in the next newsletter -
Contents
Please click on the links below to skip to:
RDUK awaits public consultation on UK rare disease plan
Public Petitions Committee hears RDUK evidence on access to orphan medicines in Scotland
Health Secretary to improve access to drugs for rare disease patients
RDUK’s AGM and Annual Report
Farewell Lauren
Other RDUK news/activities
Meetings with politicians
Northern Ireland Rare Disease Partnership meeting
Consultations
PPE in the transition of specialised commissioning
RDUK’s plans for 2012
Updates from members and partners
AKU Society and Imperial College team up for gene therapy project
SWAN UK’s first newsletter now available
SWAN UK teams up with Netbuddy to offer advice for those living with undiagnosed conditions
Research reveals HTA decisions on orphan medicines in the UK
New European Report on Rare Disease Research
RCN Nurse Specialist Survey
Report highlights divides across UK in access to cancer treatments
Sense about Science Ask for Evidence Campaign
Volunteers needed for research into genetic deletions and duplications
Clinical trials in lysosomal acid lipase deficiency
Members’ events
Myeloma UK Infodays
Kallmann Syndrome Organisation Patient Support Group meeting
New Members
RDUK awaits public consultation on a UK rare disease plan
Over the summer, RDUK maintained our dialogue with the UK’s health departments and we are encouraged to hear of the positive progress that is being made towards the launch of a draft UK plan for rare disease. (You may have noticed we are no longer using the word “strategy”, this is because we now understand that in the UK there will be a “plan” as opposed to a “strategy” – just to avoid confusion!).
The UK’s four health departments have been working together to develop one UK plan for rare diseases. This plan will go out for consultation in each of the four home nations for the mandatory 12 week public consultation period. We cannot say for sure when this consultation will be launched but once the consultation has been launched, RDUK will be working hard to inform our members and the wider stakeholder community of the content of the plan, and to gain feedback to inform our responses to the health departments of England, Scotland, Wales and Northern Ireland individually.
You will recall that RDUK launched a report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy at four parliamentary receptions at the House of Commons, the Scottish Parliament and the Welsh and Northern Ireland Assemblies to mark Rare Disease Day 2011 (the report is available here. This report outlines RDUK’s recommendations for a plan for rare diseases which were developed over the space of a year and a half with contributions from over 1000 organisations or individuals. We are encouraged with the re-assertions we have received from the health departments that our recommendations have been instrumental in assisting the development of the UK plan.
Whilst this progress is encouraging, there are also a number of risks to mitigate. Until we have seen the proposed plan, we do not know how many of our recommendations will have been incorporated. No single nation can address all the challenges posed by rare diseases alone, so the collaboration we have seen between the four health departments is encouraging. However, there is also the danger that, as the plan has to be accepted by all four health departments, it might get “watered down”.
There is also the possibility, of course, that the development of the plan is merely seen as a tick-box exercise; RDUK has been clear through the entire process that a plan for rare diseases must be more than just another document; it must be implemented in practice. We will be pushing for clear timelines for delivery and outcome measures. Following the consultation period and the subsequent development and launch of the final plan, RDUK is hoping to work with our members, health departments and NHSs to implement the plan. This will of course necessitate scrutiny of the actions being taken.
We will keep you updated on any developments.
Public Petitions Committee hears evidence on access to orphan medicines in Scotland
Above: Chair of RDUK, Alastair Kent, gives evidence to the Committee
RDUK submitted a petition on access to orphan medicines in Scotland and we were delighted to give oral evidence yesterday to the committee (October 4th). The Petition we submitted can be read here.
In the Petition we highlight how patients and families are often not able to access potentially life-changing treatments in Scotland. We call for the Committee to ask the Scottish Government:
- what plans it has in place for the implementation of a national plan for rare diseases in Scotland,
- what plans it has to allow a budget so that all patients can access therapy, if available, for rare diseases,
- to undertake a review of how orphan medicines for rare diseases are appraised,
- to review how Individual Patient Treatment Requests operate in the context of rare diseases,
- and to review whether the budget for the Orphan Drugs Risk Share Scheme is sufficient to meet the needs of patients in Scotland who would benefit from these treatments.
The evidence session was an excellent opportunity to bring the issues to the attention of the MSPs on the Committee. The Committee has decided to pursue the matter further by writing to:
- the Scottish Government
- the Scottish Medicines Consortium
- Health Boards
- the Advisory Group on National Specialised Services
- Procurement Scotland
You can view the evidence session online here.
We will keep you updated on the outcome.
Health Secretary plans to improve access to drugs for patients with rare diseases
In his speech at the Conservative Party Conference yesterday, the Secretary of State for Health, Andrew Lansley, announced plans to improve access to drugs for patients with rare diseases. The aim is to improve access to unlicensed or off-label drugs when there is no licensed alternative (as there often isn’t for most rare diseases) by giving doctors more information about treatment options for rare diseases.
The Health Secretary said:
“The NHS we want to create is one where doctors and patients at local level have the power to take the best clinical decisions together.Wherever possible we should apply common sense solutions – especially to longstanding problems such as this – to ensure that patients can access the treatment they and their doctor think best for them.”
RDUK welcomes any moves to improve the information available to clinicians and patients on rare diseases and hopes that this will lead to more patients being able to access life-enhancing treatments. However, the ultimate aim should be to see the development of more licensed treatments for rare diseases.
The Department of Health has issues a press release which is available here.
We will write to Mr Lansley for further clarification on his proposals.
RDUK’s AGM and Annual Report
On the 12th September we were delighted to welcome many of our members to our 2011 AGM. At the AGM the Chair of RDUK, Alastair Kent, gave an overview of our activities over the period from 1st July 2010 – 30th June 2011. We also had a special guest speaker, Dr Edmund Jessop, Medical Director for the National Specialised Commissioning Group who gave his personal views on how a UK plan for rare diseases could impact on a number of areas including centres of excellence, diagnosis, screening, research and specialised commissioning.
Our Annual Report 2010-2011 is now available to view here. The report gives and overview of our activities as well as looking ahead to future activity. We are grateful for Words and People for their pro-bono work in designing the report for us.
The draft minutes of the AGM including notes from Dr Jessop's talk can be downloaded here.
Alastair Kent’s presentation can be downloaded here.
Farewell to Lauren Limb
In September we were sad to say goodbye to Communication and Member Services Officer, Lauren Limb. The good news, however, is that Lauren will be continuing to support patients and families affected by rare diseases as she is now studying for a Masters in Genetic Counselling at the University of Manchester. Her role at RDUK has been invaluable experience in the field.
We wish her all the best!
Other RDUK news/activities
Meetings with politicians
Over the past couple of months, we have been busy setting up meetings with a number of politicians, particularly in the devolved nations of Scotland, Wales and Northern Ireland, to generate political support for a plan for rare diseases.
In May 2011 there were elections to the devolved parliaments. As a result, there are a number of new politicians to build relationships with, new members of the health committees and we need to strengthen relationships with returning politicians. You may also remember that ahead of the elections, we conducted a contact campaign with our members to collect pledges of support for a plan for rare diseases from election candidates. We are following up those elected politicians who we received pledges of support from.
We are meeting with many politicians over the coming months. Please see below who we have met with recently.
Wales
Mark Drakeford – new AM and Chair of the Health and Social Care Committee
Rebecca Evans – new AM and member of the Health and Social Care Committee
Julie James – new AM
Keith Davies – new AM
In Wales, we also had a constructive meeting with Dr Geoffrey Carroll, Medical Director for the Welsh Health Specialised Services Committee (WHSSC) – the body responsible for joint planning of specialised services on behalf of the Local Health Boards in Wales. At the meeting we discussed how a UK plan for rare diseases might work in practice in Wales.
Northern Ireland
John McCallister MLA – Ulster Unionist Party Spokesperson for Health, Social Services and Public Safety (HSSPS) and member of the HSSPS Committee
Kieran McCarthy MLA – Alliance Party Spokesperson for Health and member of the HSSPS Committee
Members of the Northern Ireland Rare Disease Partnership (more information below) also met with Jim Wells MLA, the Democratic Unionist Party Deputy Chair of the HSSPS Committee who is tipped to succeed Edwin Poots as Health Minister.
Northern Ireland Rare Disease Partnership (NIRDP) meeting
The NIRDP, of which RDUK is a partner, recently met in Belfast where we developed our plans. The main areas of discussion centred on plans to develop training on rare diseases for relevant health professionals and also a survey of experience of diagnosis in Northern Ireland which will form the basis of a new publication which we hope to launch to coincide with Rare Disease Day 2012.
Progress towards registering the NIRDP as a company with the ultimate aim of gaining charitable status is also going well.
More information about the NIRDP is available here.
If you would like to get involved with the NIRDP, please contact me –
Consultations
We submitted a response to the consultation on an all-Wales policy for Individual Patient Treatment Requests (IPFRs). Our consultation response can be viewed here. Whilst we welcome the move towards a more transparent and robust decision-making framework, we also expressed areas of concern or where we would like clarification including:
- how the guidance will be applied universally;
- concern that the guidance is framed in a way which places the onus on a patient with a rare disease to prove that they are exceptional;
- the need for a broad range of evidence to be taken into account when making IPFR decisions about rare diseases;
- that crude opportunity cost considerations must be avoided and the cost of not treating needs to be considered;
- the need for a stronger emphasis on the effects of a positive or negative funding opinion on an individual.
Looking ahead to the coming months, we hope to submit responses to the following consultations:
Consultation on NICE’s Quality Standards (closing date 14th October) – read here.
Royal College of General Practitioners Consultation on Integration of Care (closing date 9am 31st October) – read here.
If you have any comments on either of these, please do let me know –
Public and patient engagement in the transition of specialised commissioning
RDUK sits on the NHS Specialised Services Patient Public Engagement Steering Group which aims to ensure that the patient voice is taken into account during the transition period as we move towards new commissioning structures in England under the NHS Commissioning Board. A vast amount of work is being undertaken at a rapid pace, so the engagement of patients and patient organisations is crucial. This is especially so e.g. if there are any major changes to the Specialised Services National Definitions Set and the mandate given by the Secretary of State to the NHS Commissioning Board. The Group will continue to meet monthly to contribute to inform the transition process.
RDUK’s plans for 2012
Over the last couple of months we have been developing our work-plan for 2012. We hope to share our plans with you as soon as possible.
Updates from our members and partners
AKU Society and Imperial College team up for gene therapy project
The AKU (Alkaptonuria) Society is funding a project at Imperial College to investigate whether gene therapy could be used to cure AKU.
Led by Dr Richard Harbottle, a founding member of the British Society for Gene Therapy, the research team will use current knowledge of the genetic cause of AKU alongside their own expertise in liver gene delivery and non-viral vector design to develop a genetic therapy for AKU. If a functional copy of the defective gene can be introduced into the liver cells of AKU patients, these cells would have a restored metabolism and renewed ability to reduce the accumulation of homogentisic acid, which causes the damage in AKU.
Dr Harbottle’s group has developed a novel non-viral vector system that is uniquely suited for this application as it does not use potentially toxic viral components. Dr Harbottle said: ‘Research into gene therapy for the correction of metabolic disease is a field in its infancy. Although successful gene transfer to the liver has been reported, much work needs to be performed before routine and efficient gene transfer, and ultimately gene therapy, for metabolic disease becomes a reality.’
AKU Society Chairman Dr Nicolas Sireau said: ‘This pilot research applies particularly to AKU but, of course, is not specifically limited to treatment of this disease. Technologies developed here can be applied to the whole field of liver gene delivery and the genetic therapy of metabolic disease.’
For more information about the society, please visit their website. http://www.alkaptonuria.info/
New research highlights HTA decisions on orphan medicines in the UK
RDUK member, the Orphan Medicines Industry Group, commissioned the Office of Health Economics to conduct a review on Scottish Medicines Consortium and NICE decisions on the use of orphan drugs within the NHS. The paper provides an overview of the trends in Heath Technology Appraisal decisions focusing on the rate of recommendation/ restriction / rejection over time.
The paper is available here.
Syndromes Without a Name (SWAN) publishes first newsletter
SWAN UK is a support project run by RDUK’s parent organisation, Genetic Alliance UK, offering support and information to families of children with undiagnosed genetic conditions, most of which are likely to be rare.
The first edition of their newsletter is available here.
For more information about SWANN UK, please visit the following website.
SWAN UK teams up with Netbuddy to offer advice for those living with undiagnosed conditions
SWAN UK are delighted to be teaming up with NetBuddy to set up an 'undiagnosed' tips page offering support & info to parents of children with undiagnosed genetic conditions. They are looking for tips on things like: how to access support without the right 'labels', how to get your GP to refer you, how to cope emotionally when yet another test comes back negative, where to access useful info etc. All tips from RDUK members who have lived without a diagnosis are gratefully received! Please visit the following website for more information.
New European Report on Rare Disease Research
RareDiseasePlatform (RDPlatform), the three-year support action project of the European Union’s Seventh Framework Programme, which began in May 2008, has now ended. The "Report on rare disease research, its determinants in Europe and the way forward" has been released and is available here.
RCN Quality Standards and Innovation Unit Nurse Specialist Survey
The Royal College of Nursing is aiming to identify aspects of care important to nurses and whether these are currently being measured; the level of perceived ‘data burden‘; and how new and existing measures may contribute to the collection of valuable information regarding the direct impact of nursing on the patients experience of care, whilst also reducing the data burden on nursing staff.
This information will inform the College‘s continuing work with the Principles of Nursing Practice.
The RCN want to encourage as many specialist nurses to complete the survey as possible, and we ask members to send this information to all your specialist nurse networks and encourage them to complete the survey.
All specialist nurses will be able to access the survey via a link to an online survey provided by the Royal College of Nursing.
The survey will be online until Friday, 21st October 2011.
For further information please contact Mehreen Chandan -
New Rarer Cancers Foundation (RCF) report highlights cross-border divide in access to cancer drugs
A new report by RDUK member, the RCF, has revealed the true extent of cross-border inequalities in access to cancer treatments.
‘Nations divided? - An assessment of variations in access to cancer treatments for patients in England, Scotland and Wales’ reveals that:
- People in Wales are five times less likely to get access to a newer cancer drug than their neighbours in England. If levels of access were the same, then 159 patients would benefit each year in Wales instead of 31 - an increase of 128.
- People in Scotland are three times less likely to get access to a newer cancer drug than their neighbours in England. If levels of access were the same, then 248 patients would benefit each year in Scotland instead of 74 - an increase of 174
- Comparable levels of access for people in Scotland and Wales could be delivered at a cost of only £1 per person in Scotland and Wales per year
The report can be viewed here.
Sense about Science Ask for Evidence Campaign
RDUK supports Sense about Science’s Ask for Evidence Campaign which encourages those who are concerned about the risks or benefits that are being claimed on a website, product, advert, advice, publication or policy announcement, to ask the people responsible to show you their evidence.
The website gives more information about the campaign as well as advice to those who are concerned.
Volunteers needed for research into genetic deletions and duplications
The Study of Experiences of CHildren with VelOcardiofacial Syndrome (ECHO) at Cardiff University is interested in rates of psychiatric and psychological problems in children aged 7-13 years with 22q11.2DeS. Recently they have extended their study to include other genetic deletions and duplications (Copy Number Variants - CNVs) such as 1q21.1DeS, 16p11.2DuS, 15q13.3DeS amongst others.
This document provides more information about the study as well as contact details if you would like to take part.
Synageva seeks participants for clinical trials in lysosomal acid lipase deficiency
Synageva BioPharma, has launched a clinical program to investigate a human recombinant lysosomal acid lipase as an enzyme replacement therapy for LAL Deficiency. Enzyme replacement therapies have been successful in treating other lysosomal storage disorders such as Gaucher Disease, Fabry Disease and Pompe Disease. For more information on Synageva’s clinical trials, go to Synageva clinical trials or the EU Clinical Trials Register (use “Synageva” or “Lysosomal Acid Lipase” as search terms).
Please see this paper for more information about LAL Deficiency.
Members’ events
Please let us know if you are planning any events you would like us to publicise.
Myeloma UK – Infodays
Myeloma UK are holding Patient and Family Myeloma Infodays for people affected by myeloma to learn from experts in the field to meet others in a similar situation.
Belfast – 8th October
London - 22nd October
Cardiff – 5th November
Birmingham – 26th November
For more information, please visit the Myeloma UK website.
Patient day for Kallmann syndrome and hypogonadotrophic hypogonadism
The Kallman Syndrome Organisation is organising a patient meeting on November 12th at the Royal Free Hospital in London for patients with Kallmann syndrome and hypogonadotrophic hypogonadism.
For more information, please see this document.
New Members
We are delighted to welcome the following organisations to RDUK:
Teenage Cancer Trust - Teenage Cancer Trust aims to ensure that every young person with cancer and their family receive the best possible care and professional support throughout their cancer journey.
Stickler Syndrome Support Group - The SSSG is non profit making organisation that provides information for families, healthcare and medical professionals affected by or caring for people with Stickler Syndrome.
Macmillan Cancer Support – Macmillan is the national charity providing support for patients who live with cancer, carers, families and communities. Macmillan funds nurses and other specialist healthcare professionals and builds cancer care centres.
European Skeletal Dysplasia Network (ESDN) - ESDN provides an integrated research and diagnostic network for skeletal dysplasias. The objectives of ESDN are to understand what cellular, molecular and genetic factors cause bone dysplasias and to develop effective approaches for the diagnosis of bone dysplasias. Ultimately this integrated and multidisciplinary approach will promote the correct diagnosis of many skeletal dysplasias.
One in a Million – This organisation aims to raise awareness of a very rare cancer, pseudomyxoma peritonei; to promote fundraising events and to offer support and advice to patients and family members.
aHUS Action - aHUS Action is a coalition campaigning for better NHS care for people with atypical haemolytic uremic syndrome. They are calling for a national specialised service for aHUS and the reimbursement of new therapies. (website coming soon in the meantime, contact for more information).
Best wishes,
Stephen Nutt - Executive Officer
RDUK Secretariat
Rare Disease UK
Unit 4D, Leroy House
436 Essex Road
N1 3QP
UK. |
