ERN-Skin Newsletter

Autumn 2020

 
   
 
 
 

Events

 
 
 
 
 
 
 

A successful Virtual Board Meeting! 

 
 

Thank you very much, it was a real pleasure to see so many of you online! Despite this very special context, we adapted and all together managed to have great meetings. The Board presentations have been added to the ERN-Skin website.  

 
 


ERN-Skin Scientific Day: Save the date!

Friday 19th February 2021 - Online 

Be ready for this new meeting: one day on overlapping topics shared by the ERN-Skin groups and/or by other ERNs, for every ERN-Skin thematic group and with guest experts.

 
   
   
 
 

The ERN-Skin family is growing!

 
 
 
 
 
 
   
 

Welcome to our 4 affiliated partners  

  • Mater Dei Hospital – Malta
  • Children’s Clinical University Hospital, Riga – Latvia
  • Centre Hospitalier du Luxembourg – Luxembourg
  • Clinical Institute for medical genetics, University Medical Center Ljubljana – Slovenia
 
   
 


Review of the 11 ERN-Skin new applicants   

We received applications from five different countries: Austria (1), Denmark (1), Germany (1), Italy (7), the Netherlands (1). The whole evaluation process will last until summer 2021, and we are currently at the ERN review stage.

 
   
 
 

SKIN ePAG

 
 
 
 
 
 
   
 

The patient satisfaction survey is now available!

This questionnaire aims to measure the level of patient satisfaction after consultation in an ERN-Skin centre, in order to improve their quality of care and performance. 

It is being translated in every ERN-Skin languages and we already have 13!

On the ERN-Skin website you will find:

  • the links to the online versions of the questionnaires
  • the printable versions of the questionnaires 


 
   
  
 
 

Patient journey

A “Patient Journey” is a testimony that reflects the natural history/needs of patients and their families for a specific rare disease. It represents the collective perspective on the burden of the disease and the needs of people with first-hand experience of living with a rare disease.

Already available:

  • Congenital melanocytic naevus
  • Cutis laxa / Lungs - arteries
  • Cutis laxa / Neurologic - skeleton
  • Cutis marmorata telangiectatica congenita
  • Netherton syndrome / Ichthyosis liners circumflexa
  • Pemphigus / Autoimmune blistering disease


 
 

Welcome to new Skin ePAG members!

Antoine Gliksohn represents Genespoir the french patient association for albinism. He joined the ERN-Skin as a SKIN ePAG Advocate, and works in the thematic group on Cutaneous diseases related to DNA repair disorders. 

 
   
   
 

Hugo Vlielander, from Oogvereniging Albinisme (NL) and Luigi Pilolli, from Associazione Nazionale Pemfigo Pemfigoide Italy have also joined the SKIN ePAG community! They will respectively be present in the thematic groups on Cutaneous diseases related to DNA repair disorders and Autoimmune Bullous Diseases.

 
   
 
 

Guidelines

 
 
 
 
 
 
   
 

Guidelines elaborated by the ERN-Skin or developed with the participation of the ERN-Skin are now online! 

You can also find guidelines recommended by the ERN-Skin on our website. 

 
   
 
 

Registry

 
 
 
 
 
 
   
 

  • Version of Pilot: this version still needs some work on the date checks and on the excel uploads.
  • Specific dataset: Each disease group has to come back with their required specificities to identify their diseases. We will then add those items in the registry.

 
   
 
 

CPMS

 
 
 
 
 
 
   
 

  • Statistics: Active Users : 75 versus Registered users: 92. Panels : 50. The quantity of users is stable, the number of panels increases smoothly, regularly. 
  • Activity: Three thematic groups organized panel sessions to discuss patient cases (Inherited Epidermolysis Bullosa and skin fragility syndromes - Darier Disease - Hailey-Hailey disease, Autoimmune bullous diseases, Cutaneous Mosaic Disorders: Nevi & Nevoid Skin Disorders - Complex Vascular Malformations and vascular tumors)
  • Improvement: some work is ongoing regarding improvements of the tool and we are sharing our view to represent your interests ; additional releases of new features are due this year and next.

If you have any questions about the CPMS or the Registry, please contact valerie.deprez-ext@aphp.fr

 
   
 
 

ERN-Skin website

 
 
 
 
 
 
 

New pages and updates

Several pages have been created : Governance, Tutorial, Guidelines, Emergency cards, Patient documents, Publications, Clinical Trials, Open calls, Patient satisfaction survey.

And the following sections have been updated : Home, About us, Patient advocacy, Expertise and Events.

www.ern-skin.eu


The member area is open!

The Member Area is a workspace that ensures the pooling of information within the ERN-Skin. It is reserved for ERN-Skin members (reference centres, affiliated partners & SKIN ePAG) and Advisory Board members.

 
   
 
 

Research

 
 
 
 
 
 
   
 

EJP-RD News

Research Mobility Fellowship

  • Open / Deadline: 13 November 2020
  • This call aims to fund PhD students and medical doctors working in ERN-member institutions to undertake short scientific visits up to 3 months fostering specialist research training abroad within one of the ERN host institutions..
  • More information …

Networking Support Scheme (NSS) Call

  • Continuous basis / Collection date: 1 December 2020
  • This call aims to encourage sharing of knowledge on rare diseases and rare cancers of health care professionals, researchers and patients. Eligible applicants are health care professionals, researchers and patient advocacy organizations from selection of countries (see link below)
  • More information ...

Social sciences and Humanities Research to improve health care implementation and everyday life of people living with a rare disease

  • Open: December 2020 / 1st application Deadline: February 2021
  • This call aims to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear future benefit for patients.
  • More information …


 
 

COVID-19 & Rare Skin Diseases assay: we need your involvement!

The main objective of this European observational cohort study (research data) is to determine the impact of a COVID-19 virus infection in a cohort of patients with rare skin diseases and particularly if these rare diseases and their treatments are risk factors of infection severity.

Please look into your Patients’ medical records and evaluate the number of patients presenting with a rare skin disease that you may include in the study (diagnosed or suspected to having COVID-19 infection).

Please send us this estimation, it will help us estimating the number of patients expected to be included in the study and help in refining the overall study duration. Then each site will be contacted to help you and to check if the study is proceeding well.

Please Contact Anna Garofano & Catherine Champseix for this estimation or any questions !


Transversal cross-ERNs Study Group on Pregnancy and Family

The ERN-Skin, along with other ERNs, participates in the Transversal cross-ERNs Study Group on Pregnancy and Family, with a focus on Family planning and counselling. 

The ERNs have identified other topics such as:

  • Fertility preservation and assisted reproduction
  • Monitoring of pregnancies, delivery and outcomes
  • Post-pregnancy, management of the newborn 
  • Medicines during pregnancy and lactation
  • Parenthood and rare and complex diseases
  • CPGs & Clinical Decision-Making Tools: state of the art and unmet needs
  • Contraception
 
   
 

Co-funded by the European Commission