OrphaNews : the newsletter of the Rare Disease Community


RD-ACTION: the new European Rare Disease Joint Action

RD-ACTION, the new Joint Action consisting of the member states of the European Union for rare diseases, was launched on 17 September in Luxembourg, under the auspices of John Ryan, Acting Director of the Health Division and Food Security (DG Health), Jacques Remacle, Head of Health CHAFEA unit (Consumers, Health, Agriculture and Food Executive Agency) and Patrice Dosquet, representing the French Ministry of Health.

Following the two previous Joint Actions - Orphanet Joint Action and EUCERD - RD-ACTION represents renewed support of the European Commission (EC) to rare diseases, through its Directorate General for Health (DG SANTE). RD-ACTION has three main objectives:
- to contribute to the implementation, by member states, the recommendations of the EC Panel in relation to policies on these diseases,
- support the development of Orphanet and make it sustainable, and finally
- help Member States to introduce the ORPHA code in their health systems to make rare diseases visible.

With a global budget of €8,344,079, this work will last three years (until June 2018), following the logic of coherence and continuity vis-à-vis the previous actions, but aims to go further in terms of concrete implementation and consolidation policies.

This action is coordinated by Orphanet (INSERM), bringing together no less than 63 European and non-European participants. The responsibility of implementing the various actions will be carried out by Orphanet (Ana Rath), University of Newcastle (Kate Bushby, coordinator of theEUCERD Joint Action which just ended), the German Institute for Documentation and Medical Information DIMDI (Stefanie Weber), the University of Vienna (Till Voigtländer) and EURORDIS (Yann LeCam). The National Bank of Rare Diseases Data (BNDMR) represented by Rémy Choquet, will work towards the codification, notably the requirement of definition and bringing solutions to the Member States for the implementation of coding rare diseases. DIMDI and the Register of the Venetian region (Paola Facchin) will drive the implementation and testing of these solutions. EURORDIS will work towards dissemination actions along with Orphanet and Higher Health Institute (ISS, Italy). The dissemination actions include the 8th European Conference on Rare Diseases and Orphan Products, 26-28 May 2016, Edinburgh. The Directorate General of Health (DGS France, represented by Patrice Dosquet) will lead the work towards a financially sustainable European Orphanet database.

RD-ACTION was designed in the spirit of integration and coherence between the data produced by Orphanet, which provides, among others, the necessary analysis towards policy recommendations, and political action that will then guide the production, operation and dissemination of this data. Participants will ensure effective communication between the reality of each state and the EC Panel, in order to concretely support the implementation of their recommendations.
Read the European Commission press release on RD ACTION

Spotlight on...

Working for rare diseases: EUCERD Joint Action draws to a close and looks to the future

On 15 September, over 50 participants from across Europe attended the Final Conference of the EUCERD Joint Action. This event was organised to show case the achievements of the Joint Action, which ran from March 2012 to November 2015, and to analyse the current state of the art of rare disease activity across the European Union, by exploring progress and remaining challenges in key areas such as healthcare, social care and research. The even was a good opportunity to strenghten collaborations with the stakeholders present and relevant initiatives in the field, and to provided the apt moment to hand over the activities led by the Joint Action to the next Joint Action on rare diseases, RD-Action (see Editorial).

The outcomes of the EUCERD Joint Action, in particular the resources and recommendations elaborated in collaboration with the European Union Committee of Experts on Rare Diseases and EC Expert Group on Rare Diseases, were presented in the morning session. Participants heard about topics as diverse as quality of care and centres of expertise, RD European Reference Networks, social services for RD, cross-border genetic testing and the codification of rare diseases. The work lead in the context of the Joint Action in support to the EUCERD and Commission Expert Group on Rare Diseases has led to the adoption of 5 recommendations in the past three years, with two other recommendations, on genetic testing and social care under discussion currently. In terms of important resources for the community, the Joint Action also supported the elaboration of the annual report on the State of the Art of Rare Diseases Activities in Europe, a 'go-to' source of information on activities in the field of at national and European level aimed at promoting the exchange of information and monitoring the implementation of rare disease policy: this report will continue to be produced in a more dynamic format in the future RD-Action (see Editorial).

The presentations of the activities of the Joint Action were followed by three sessions dedicated to priority areas in the field of rare diseases, informing participants about the latest outcomes of a number of European projects in each area and the efforts made by the EUCERD Joint Action to explore synergies and to link this work into the discussions at the level of the EC Expert Group on Rare Diseases.

The first of these sessions was dedicated to Rare Disease Research, Therapeutics and Translation into the Sphere of Health, with presentations from the Rare Best-Practices project, Burqol-RD, a project aimed at exploring the impact of health policies, interventions and treatments in the field of rare diseases, the transnational research support mechanism E-Rare, and the International Rare Disease Research Consortium concerning the impact of IRDiRC policies at national level. The main issued discussed during this session was that of sustainability of the resources produced via these initiatives, and the importance in particular of research into health economics, as regards rare diseases, to inform the implementation of rare disease policies at national level.

The following session explored the integration of the results of a number of initiatives concerning rare disease registries, a field where the EU has invested resources through a multitude of projects (such as EPIRARE, the EUCERD Joint Action, and the PARENT Joint Action) with a view to developing an appropriate model for a European Platform for Rare Disease Registration. This platform, recently created at the EC's Joint Research Centre in Ispra, Italy, has to date taken over the responsibilities for the management of the central support of the Eurocat congenital anomalies registry, and the European Surveillance of Cerebal Palsy registry. Stakeholders in the field of rare diseases are still waiting from the JRC confirmation of the governance structure, road map and list of services to be provided by the Platform. In particular, Member States who are in the process of creating national rare disease registration systems, or who are considering this direction, are looking for confirmation of the possible support that will be provided, and the guidelines for interoperability (such as a minimum data set) which could be expected.

The final session was dedicated to national plans and strategies for rare diseases, in particular support to the implementation of national activities in this area. The EUCERD Joint Action, continuing the activities of the Europlan project (2008-2011) supported the organisation of over 20 national conferences and debrief sessions across Europe with the close collaboration of national patient alliances and organisations, to ensure the tranmission of European recommendations at national level and appropriate support to Member States in the elaboration and/or implementation of their initiatives. To date, nearly all European Member States have adopted a plan/strategy for rare diseases, with those not yet having adopted a plan in the final stages of elaboration. The next challenge will be the implementation of these plans/strategies, for which very few have a dedicated budget and for some of which need to be translated into concrete actions. The EUCERD Joint Action, through the national conferences and an analysis of these plans, has been able to extract a number of good practices that could help Member States in the implementation of their plans, which will be available shortly.

The day finished by establishing the list of possible priorities in the rare disease policy field to be explored by the Expert Group on Rare Diseases with the support of the new RD-Action for rare diseases (see Editorial). The Commission and the Coordinator of the EUCERD Joint Action, Kate Bushby, thanked the partners and the many participants in the conferences and workshops organised over the past 3 years, for their hard work and wished them success in the future work of the next Joint Action.

The report of the conference will soon be available online.

EU Policy News


Submit expressions of interest to represent civil society at the EMA

The Health and Food Safety Directorate-General of the European Commission has extended the deadline for its calls for expressions of interest to represent civil society in two scientific committees of the European Medicines Agency (EMA): the Pharmacovigilance Risk Assessment Committee (PRAC) and the Committee for Advanced Therapies (CAT). For both calls, expressions of interest should be submitted to the European Commission no later than 18 October 2015, either by email or post. Further information on the assessment criteria and the application process can be found on the Commission's website.
Call for civil society members to join two EMA committees

National & International Policy Developments

Comprehensive policy for patients with rare diseases in Philippines

The House of Representatives in Philippines recently approved a comprehensive policy on services for patients with rare diseases that will provide them with timely and adequate access to healthcare, information, and products to treat their conditions. This will be done primarily through the establishment of a comprehensive and sustainable health system for identification, referral, and management of patients with rare diseases—integrated within the current public health system; and the inclusion of rare disease benefit package in PhilHealth.

The bill stipulates giving regulatory and fiscal incentives to support research and development activities on rare diseases and manufacturing of affordable drugs or products. Likewise, the bill provides for the design and maintenance of a rare disease registry containing data on cases, patients, drugs and products for rare diseases. Data from the registry will be used in policy formulation. The provisions in the bill are set to address the current challenges being faced by patients afflicted with rare diseases, their families and caregivers, and their healthcare providers.

This bill defines a rare disease as one that affects 1/20,000 in the Philippines. It provides a preliminary list of rare diseases and the provision of inclusion of others under the advisement of the National Institute of Health in the United States.
Read the report on this topic by National Academy of Science and Technology, Philippines

Other European news

The rare disease persons card implementation in Portugal

The Portuguese Ministry of Health Shared Services and Directorate General of Health, recently announced the implementation of the Rare Disease Person's Card (RDPC). Coded using the ORPHA code system, this card is meant to identify the rare disease patient and display the relevant information of the condition as well as information especially required during an emergency situation. An article published in Procedia Computer Science describes the process of preparation, approval and the regulatory model of the card. According to the authors, due to nascent stage of the implementation of these cards, there is still room for the card to evolve and expand. Still, 828 cards have been requested through the family physician of the concerned patients, regarding 738 different rare diseases, half of which have been activated. The card is increasing awareness and empowerment of rare disease's patients, pushing the project forward and improving health care.
Download the document from Direcção-Geral da Saúde
Read the open access article

Sample of the adult British population want genetic testing of children for adult-onset conditions

Almost all the guidelines published till date on genetic testing on children for adult onset conditions recommend deferring such tests unless there is a clear indication that it will prevent the future outcome of the condition. Whether the general public agrees with this recommendation is addressed in an article published in European Journal of Human Genetics.

Testing the attitudes of a representative sample of the adult-British public revealed that, contrary to the guidance documents, 47% believed that parents should be able to test their child for adult-onset conditions, even if there is no treatment or prevention at time of testing. Younger respondents of the survey and men were more likely to support this kind of testing as well as carrier testing. The authors also presented 4 arguments in support of deferring testing to the participants, out of which "a child's future ability to decide for her/himself if and when to be tested" was generally the least supported argument in the sample. However, the authors noted that women were significantly more likely to consider all 4 arguments as valid to defer testing for adult onset conditions.
Read the Open Access article

Sample of Danish population want disclosure of incidental findings from NGS studies

Another article has studied an equally contentious issue –disclosure of incidental findings - is published in European Journal of Human Genetics. Here the authors also find that contrary to the recommendations of professional organisations, participants in next generation studies wanted disclosure of all incidental findings. The authors investigated if participants recruited from the Region of Southern Denmark want disclosure of incidental findings and which ones would they want to know more about. According to the authors most participants wanted disclosure of all incidental findings; only 3% did not want any disclosure, while 36% wanted disclosure only on actionable variants. According to the authors due to the disparity of opinion between the official recommendation and the sample studies "options for reporting IFs in research studies (could) be incorporated in the consent form."
Consult the Pubmed abstract

Other International News

Discussion paper by the Australian government to support people with chronic and complex health conditions

To better support people with chronic and complex health conditions, the Australian Government has released a discussion paper by the Primary Health Care Advisory Group, to examine options for health reform and provide a report to the Australian Government in late 2015. The paper is designed to set out the case for change and introduce some possible options to improve primary health care for people with chronic and complex conditions. In order to engage all stakeholders, consultation will be held with the Advisory Group. Results of the survey that accompanied the discussion paper will be out shortly.
Read more on Therapeutic Goods Administration, Australia

Contradictions of public health policies geared to rare disorders in Brazil

A paper published in Portuguese presents information of the rare disease health policy in Brazil, using the example of Ostegenesis Imperfecta. The paper details the contradictions, especially with respect to therapeutic decisions and the strengthening of the specialized network for addressing this condition which are expressed in the drafting and final text of the new law.
Consult the Pubmed abstract

Sickle cell disease among children in Africa

An article published in International Journal of Africa Nursing Sciences provides an integrative review of 63 references related sickle cell disease among children in Africa, focussing on the incidence, prevalence, morbidity, and mortality; current practices and challenges related to screening, diagnosis, and treatment. From this data the authors also provide recommendations for practice, policy, and research to improve health outcomes of children with sickle cell disease in Africa.
Read the Open Access article

Guidance Documents and Recommendations

22q11.2 deletion syndrome: guidelines for the management

Consult the Pubmed abstract

To read more about "22q11.2 deletion syndrome"

Genet Med. ; 17(8):599-609 ; August 2015

Cushing syndrome: guidelines on treatment

Consult the Pubmed abstract

To read more about "Cushing syndrome"

J Clin Endocrinol Metab. ; 100(8):2807-31 ; August 2015

Congenital hypogonadotropic hypogonadism: European consensus statement on diagnosis and treatment

Consult the Pubmed abstract

To read more about "Congenital hypogonadotropic hypogonadism"

Nat Rev Endocrinol. ; 11(9):547-64 ; September 2015

Pemphigus vulgaris/foliaceus and bullous pemphigoid: guidelines for the treatment

Consult the Pubmed abstract

To read more about "Pemphigus vulgaris"
To read more about "Pemphigus foliaceus"
To read more about "Bullous pemphigoid"

J Dtsch Dermatol Ges.

Facioscapulohumeral dystrophy: guidelines on evaluation, diagnosis and management

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