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European Reference Network for Rare, Low Prevalence, Diagnosed and Undiagnosed Skin Disorders [ERN-SKIN] [769001] - Operating Grant
Project abstract

The ERN-SKIN 2017 Work Programme aims at laying the groundwork for the key strategic objectives set forth in the 2017-2021 Work Plan. The objectives are:
• to build the operational framework and set up all the necessary functioning networking services, evaluated by a quality control strategy, with a special focus on:
--Patient Representatives Council to empower patients in the organization of cross-border healthcare pathways
--8 sub-thematic groups on high level patient management and research
--4 transversal groups: training & therapeutic education, e-health & registries, Deep phenotyping, clinical outcomes.
• to cover the largest possible number of diagnosed and undiagnosed rare and low prevalence skin disorders in order every patient finds a home in the ERN-SKIN with the inclusion of 4 new sub-thematic groups
• to integrate more members or affiliates, from Member States not yet represented in the ERN-SKIN with a particular attention for including small and Eastern European countries and involving in training activities Member Sates with insufficient number of patients or lacking technology or expertise
• to develop collaborative relationships with overlapping ERNs & Scientific Societies with the set up of common working groups to promote a multidisciplinary management
• to assess reliable resources for patients and healthcare providers thanks to survey on available services for patients and professionals, updated guidelines and best practices, validated therapeutic education programs, high-quality training sessions as well as efficient information and dissemination tools.
• to pool expertise and provide the first ERN-SKIN services: -- the first version ERN-SKIN directory ;
-- the first version ERN-SKIN website; --the first ERN-SKIN training; -- the development of the ERN-SKIN guidelines on ichthyosis; -- the definition of concrete road maps by each sub-thematic and transversal groups, a prerequisite to update/develop guidelines and build innovative e-health.

Summary of context, overal objectives, strategic, relevance and contribution of the action

The ERN-Skin aims to enhance high-level patient management for patients with rare complex, low prevalence and undiagnosed skin disorders, by improving the quality and safety and access to highly specialized healthcare. These diseases have in common:
- misdiagnosis due to a poor skin knowledge among healthcare providers (HCPs)
- ignorance regarding the management of skin symptoms (inflammation, skin barrier alteration, undernourishment, sepsis, pain)
- lack of training of paramedical teams for the management of alterated skin
- poor recognition of the skin alteration as a handicap
- poor social integration of patients
- life-threatening diseases, skin carcinogenis due to inflammation (chronic wounds), immunosuppressive treatments or genetic predisposition.

The ERN-SKIN builds thus on the knowledge of existing networks and is supported by a large number of dermatology forums, including the European Academy of Dermatology and Venereology, the European Dermatology Forum, European Society of Pediatric Dermatology, the Genodermatoses & Rare Diseases Network and Eurordis – Rare Diseases Europe, the European alliance of rare diseases patient organisations.

Through its 2017 Work Programme, the ERN-Skin laid the groundwork for the key strategic objectives set forth in the 2017-2021 Work Plan.

These objectives were:
• to build the operational framework and set up all the necessary functioning networking services, evaluated by a quality control strategy, with a special focus on:
--Patient Representatives Council (Skin e-PAG) to empower patients in the organization of cross-border healthcare pathways
--8 sub-thematic groups on high-level patient management and research
--4 transversal groups: training & therapeutic education, e-health & registries, Deep phenotyping, clinical outcomes.
• to cover the largest possible number of diagnosed and undiagnosed rare and low prevalence skin disorders in order every patient finds a home in the ERN-SKIN by adopting a strategic expansion plan with the perspective of eventually including 4 new sub-thematic groups
• to integrate more members or affiliates, from Member States not yet represented in the ERN-SKIN with a particular attention for including small and Eastern European countries and for involving in training activities Member Sates with insufficient number of patients or lacking technology or expertise, especially by supporting the cost of travel and accommodation for 5 HCPs from said Members States to participate in the 1st ERN-Skin Course
• to develop collaborative relationships with overlapping ERNs & Scientific Societies with the perspective of setting up common working groups to promote a multidisciplinary disease management
• to assess reliable resources for patients and healthcare providers thanks to survey on available services for patients and professionals, updated guidelines and best practices, validated therapeutic education programs, high-quality training sessions as well as efficient information and dissemination tools.
• to pool expertise and provide the first ERN-Skin services:
-- the first version ERN- Skin interactive directory ;
-- the first version ERN- Skin website;
-- the first ERN- Skin training;
-- the development of the ERN- Skin guidelines on ichthyosis (undergoing);
--the definition of concrete road maps for each sub-thematic and transversal groups, a prerequisite for update/develop guidelines and build innovative e-health.

Moreover, the ERN- Skin Year 1 activities actively contributed to the health programme by:
• Striving to implement the EU legislation on Cross-Border Healthcare through the development of an interactive directory
• Achieving economies of scale by providing citizens with better information on rare skin disorders, better access to highly specialized healthcare thanks to the ERN- Skin website, newsletter and interactive directory
• Identifying and promoting the best practices with the definition of specific criteria f

Methods and means

Here is a summary of the main methods and means with regards to the main key strategic objectives for Year 1 of the ERN-Skin.

Building the operational framework and set up all the necessary functioning networking services, including preparation of calls to ensure funding of certain activities to expand the offer of services to be provided by the ERN-Skin:
- Organisation, preparation and follow-up of meetings
- Dissemination of information
- Liaison between partners, with a special focus on the cooperation with e-PAG
- Identification of experts
- Application to the Call CEF-TC-2017-2: eHealth from INEA
- Application to 2 grants to set up shared registries

Covering the largest possible number of diagnosed and undiagnosed rare and low prevalence skin disorders:
- Update of specific criteria for each sub-thematic group
- Assessment of services delivered by HCPs
- Mapping specialised services provided by HCPs in an interactive directory

Assessing reliable resources for patients and healthcare providers:
- Assessment of guidelines for each sub-thematic group
- Roadmap to develop or update guidelines or documents for daily practice with patient representatives and members of overlapping ERNs for a multidisciplinary approach.
- Assessment of the tools developed in each country to disseminate information
- Assessment of existing patient education programmes
- Revision and improvement of the classifications, the choice and definitions of terms and adapting them for the use of dermatologists with the development of a common language shared with other ERNs/scientific networks
- Assessment of the specific needs of the ERN-Skin to elaborate shared registries
- Assessment of the existing databases to reduce duplication and facilitate re-use of data to improve efficiency in data delivery for clinical and research activities.
- Definition of the ERN-Skin specific needs in e-health

Pooling expertise and providing the first ERN-SKIN services:
- Development of the ERN-Skin website
- Development of the first ERN-Skin newsletter
- Assessment of training sessions and programmes in each European country
- Setting up the first ERN-Skin training on 15 May 2017, Helsinki, Finland
- Development of the prototype for deep phenotyping (SPOT app)

Developing collaborative relationships with overlapping ERNs & Scientific Societies with the perspective of setting up common working groups to promote a multidisciplinary management:
- Organisation of workshops with experts from the ERN-Skin and other ERNs

Integrating more members or affiliates, from Member States not yet represented in the ERN-SKIN with a particular attention for including small and Eastern European countries and involving in training activities Member Sates with insufficient number of patients or lacking technology or expertise:
- Identification of teams

Work performed during the reporting period

Here is a summary of the main activities performed with regards to the main key strategic objectives for Year 1 of the ERN-Skin.

Building the operational framework and set up all the necessary functioning networking services, including preparation of calls to ensure funding of certain activities to expand the offer of services to be provided by the ERN-Skin:
- Organisation of the Patient Representative Council (Skin e-PAG) and involvement of patient representatives at each level of the governance, thus allowing to start the development of the individual ERN-Skin burden score with cross-cultural adaptation.
- Organisation of the sub-thematic group on Deep Phenotyping
- Meetings, conference calls of the ERN-Skin bodies
- Meeting of the e-health & registry transversal group
- Definition of the Year 2 strategy and activities

Covering the largest possible number of diagnosed and undiagnosed rare and low prevalence skin disorders:
- Processes towards the inclusion of 4 additional sub-thematic groups covering new diseases (strategy for the identification of new experts, definition of specific criteria items for each sub-group)

Assessing reliable resources for patients and healthcare providers:
- Survey on services provided by health care providers
- First version of the interactive directory with services provided by health care providers
- Survey on Guidelines and recommendations for patients and caregivers
- Survey to assess the tools developed in each country to disseminate information
- Survey on training sessions and programmes in each European country
- Survey on patient education programs for children, adolescents and adults
-

Pooling expertise and providing the first ERN-Skin services:
- Road map for guidelines update and development of new guidelines / documents for daily practice
- Road map for the teledermatology platform
- Road map for the SPOT app - Skin Phenotyping Ontology and Terminology Code
- Road map for the ERN-Skin registry
- Development of 1 ERN-Skin guideline on ichthyosis (under revision)
- First version of ERN-Skin website in close link with the ERN IT platform
- Newsletter & e-mailings
- Satisfaction survey on available information
- Organisation of one course on 15 May 2017, in Helsinki, Finland on “How to use genetic methods in clinical diagnostics of rare skin disorders”

Developing collaborative relationships with overlapping ERNs & Scientific Societies with the perspective of setting up common working groups to promote a multidisciplinary management:
- Meetings of the sub-thematic groups with overlapping ERNs
- Participation in ERN-Core meeting and in the meetings of the Scientific Societies

Integrating more members or affiliates, from Member States not yet represented in the ERN-SKIN with a particular attention for including small and Eastern European countries and involving in training activities Member Sates with insufficient number of patients or lacking technology or expertise:
- 5 training grants to cover travel and accommodation for health care providers from Member States with an insufficient number of patients or lacking technology or expertise participating in the 2017 ERN-Skin in Helsinkin, Finland.

The main output achieved so far and their potential impact and use by target group (including benefits)

Here is a summary of the main outputs achieved so far by category/activity:

Promote a dynamic governance:
- An average of 92% of ERN-Skin members participated in Board meetings
- 100% of involved members in the General Coordination of the ERN-Skin have participated in the different meetings/calls
Impact:
Patients suffering from rare, low prevalence and undiagnosed skin disorders are now better represented and can make their voice heard thanks to the setting up of a Patient Representative Council (Skin e-PAG) within the ERN-Skin governance, as well as being represented throughout all the other ERN-Skin Bodies. Moreover, the high commitment of HCPs in within the governance of the ERN-Skin has also contributed to the stimulation of clinical research programmes throughout the participating HCPs leading to concrete improvements for the patients.

Medical and paramedical teams in the ERN-Skin will benefit from the level of engagement and participation of the partner HCPs to ensure the correct governance of the network and contribute to its development.
National public health authorities will also benefit from engaged HCPs, thus representing a return on investment.
European citizens at large will greatly benefit from a ERN with a dynamic governance and well-balanced organisation, since it is reassuring in terms of obtaining a very useful public service via an operational ERN on which they can rely, thus justifying their tax contributions.

Develop an interactive directory:
- All 56 partners are listed
Impact:
Patients will be better informed about specialists and which diseases they can cover.
Medical and paramedical teams in and outside the ERN-Skin will know which HCPs to reach out to in order to share expertise. This also applies to Public Health authorities’ officials.
National, European and international scientific societies will also have a more in-depth knowledge in the perspective of outreach opportunities and building collaborations.

Cooperation with other ERNs and other European and international scientific societies:
- Organisation of 1 common meeting
- At least 1 representative of the ERN-Skin in the Board or Task Forces of different scientific societies
Impact:
National, European and international scientific societies will also have a more in-depth knowledge in the perspective of outreach opportunities and building collaborations.


Publication of information on each disease and on tools developed by partners:
- Launch of the ERN-Skin website, with over 800 visits per month
- Launch of the ERN-Skin newsletter, to a database of almost 1300 recipients
Impact:
Patients will be better informed about the diseases covered by the ERN-Skin as well as of other useful resources provided by the ERN-Skin partners.
Medical and paramedical teams in and outside the ERN-Skin will better informed about the different activities and tools developed within the ERN, thus facilitating pooling of expertise.
Public Health authorities will also have a means to have a reliable source of information about the rare diseases covered by the ERN-Skin and other useful resources provided within the ERN.
National, European and international scientific societies will also have a more in-depth knowledge of the ERN-Skin activities in the perspective of outreach opportunities and building collaborations.
European citizens at large will greatly benefit from this kind of public information, helping to raise awareness on the burden rare skin disorders and what is the response from the EU via the ERNs.

Training activities & Development of skills in rare skin disorders by HCPs:
- 1 training course organised
- 5 travel grants were given to HCPs from Member States with insufficient number of patients or lacking in expertise to participate in order for them to participate to the training course
Impact:
Medical and paramedical teams inside the ERN-Skin will have access to high-quality training in order to get up-to-date information in the different rare skin

Achieved outcomes compared to the expected outcomes

Most outcomes were achieved as described in the grant agreement. Here follows a summary of the most notable variations in terms of expected outcomes and the actual achievements.

Interactive directory: we expected a significantly less use, given the date of its launch, with around 100 users in Year 1. It is a testimony to the great usefulness of this directory for patients that the number of users is already over 1500.

SPOT App Prototype: High commitment of the Deep Phenotyping transversal group and a keen interest/real need by HCPs in having a tool helping their daily practice in clinic or on ward rounds, prompted the development of a prototype.

CPMS test and use: The CPMS is a key resource provided by EC for ERNs to improve the quality, safety and access to highly specialised healthcare, thus motivating its thorough testing and feedback report from the ERN-Skin, as well as encouraging the registration of HCPs in the system.

Application to calls for grants to develop an ERN-Skin Registry: Registries are a priority for every ERN and it is a key issue to make existing rare disease registries interoperable. Applying for such grants has also streamlined the identification of the ERN-Skin specific needs with regards to registries.

Expansion plan: we expected to have constituted 4 new sub-thematic groups out of the 4 identified priority areas: Photosensitivity, Non bullous complex autoimmune/inflammatory cutaneous diseases, Premature skin ageing, Rare cutaneous proliferation in children and adults. However, we are depending on the 2018 European Commission call for new members and affiliates to include future members meeting the specific criteria for these groups into the ERN-Skin.

Guidelines: 1 guidelines on ichthyosis is under revision. However, at the same time, the ERN Coordinator Group in partnership with RD-Action has decided to elaborate common recommendations for the elaboration of guidelines at the EU level. These recommendations were not released yet at the end of the project.

Dissemination and evaluation activities carried out so far and their major results

The activities carried through the Year 1 of the grant agreement were mainly disseminated via the following means:

− ERN-Skin course (Target groups: HCPs)
− ERN-Skin website (Target groups: HCPs, Health authorities, Patient groups, Public at large)
− ERN-Skin newsletter (Target groups: HCPs, Health authorities, Patient groups, scientific societies)
− Rare Disease Day: Art Contest organized in partnership witht the Genodermatoses & Rare Skin Disorders Network
− ERN-Skin presentation and posters during conferences (Target groups: HCPs, scientific societies, Patient groups, Health authorities,)
− Social media (Target groups: Patient groups, Public at large)

With regards to the evaluation activities, an internal evaluation was conducted by the general coordination with the support of the chairs of the sub-thematic and transversal groups (see technical report). A meeting was held on 23 April 2018 to discuss Year 1 results/activities compared with our initial objectives. The aim was to discuss about ERN-Skin achievements and their use including dissemination but also to look at the major problems, the lessons learned and to make some recommendations. A report/minutes of this meeting will be a deliverable for Year 2 of the project, and will be disseminated in the collaborative platform.