Social Media Listening
An article has just been published in JEADV :
Patients’ testimonies, feelings, complaints and emotional experiences with dermatoses on open social media:
CONECT Project
CONECT Project (Cardio-Ocular NEtwork Connective Tissue)
gathers together several organisations dedicated to connective tissue rare disorders with cardiovascular involvement : Arterial Tortuosity Syndrome, Marfan Syndrome, Ehlers-Danlos Syndrome, Cutis Laxa, Loeys-Dietz Syndrome, etc… Initiated by the American Patient Organisation for Arterial Tortuosity (ATOF-ATS), it aims to build a collaboration to evaluate the common issues in a population with similar patients, to inform on possible treatments that are not widely known, to ensure that patients have a minimum of scientific and clinical knowledge on their disorder to be able to give their informed consent to take part in research programmes and to improve their quality of life. Online webinars have already been set up, for patients as well as health professionnals.
ERN-Skin Board Meeting
6th Novembre 2023 :
ERN-Skin Annual Board Meeting.
It really was a great pleasure to meet again in person with all members of ERN-Skin.
Whether we are Health professionnals, doctors, researchers or patient representatives, a real common will drives us : improving Skin Patients’ quality of life throughout Europe.
The new roadmap for the coming years (2023-2027) has many signposts along the way, whether for health professionnals or Patients’ representatives
The first results of the Patient Satisfaction Survey are being analysed.
GLOBAL RESEARCH ON THE IMPACT OF DERMATOLOGICAL DISEASES (GRIDD)
If you are a dermatology patient THIS IS VERY IMPORTANT
You are invited to take the GRIDD Survey now and share it with anyone who can take part!
On June 5, 2023, GlobalSkin, in collaboration with Cardiff University (UK) and University Medical Centre Hamburg-Eppendorf (Germany), launched the Global Research on the Impact of Dermatological Diseases (GRIDD) Study.
Launched with the aim of engaging 10,000 participants, the GRIDD Study takes 10-20 minutes to complete and is accessible in 17 languages.
The data collected will help to validate the need for improved care, better treatment options, and more affordable medicine for dermatology patients globally.
The GRIDD Study is open until September 28, 2023.
The Cutis Laxa “Patient Journey”
The “Patient Journey” seeks to identify the needs that are
specific to individual syndromes. To achieve this, patient
representatives completed a mapping exercise of the needs
of each rare inherited syndrome they represent, across the
different stages of the Patient Journey.
This is the definition of the Patient Journey as mentioned in this article published in 2019.
This is an important work and we established the Cutis Laxa “Patient Journey”.
Cutis Laxa being such a complex disorder, with several subtypes and various associated symptoms, we could not have just one Cutis Laxa “Patient Journey”. We gathered together associated symptoms of the different subtypes and ended with two groups of subtypes.
Here are the results for the two “Patient Journeys” for Cutis Laxa patients:
A NEW MUTATION : EMILIN1
Adamo et al. describe a cutis laxa syndrome caused by bi-allelic loss of-function variants in EMILIN1 characterized by arterial tortuosity, aneurysm formation, and osteopenia. They provide a model in which EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis.
Prof. Dr. Christine Bodemer, MD (Paris, France) : Embedding CL in ERN Skin & ERN-Ithaca
The European Reference Networks (ERNs) set up by the European Commission allow a collaboration between all health professionals concerned by a specific disorder throughout Europe.
They also allow the discussion of more difficult cases, online, thanks to the Clinical Patient Management System (CPMS) plateform.
Mrs Klára Farkas, MD (Budapest, Hungary) : Potential applications and value of novel skin imaging techniques in connective tissue disorders
In this presentation we introduce novel imaging techniques including nonlinear optical (NLO) microscopy, multispectral imaging and high-frequency ultrasounds (HFUS) to visualize the characteristic changes in Connective Tissue Disorders (CTDs).
The novel imaging techniques may prove useful in the early diagnosis of CTDs.
They may be also used for the objective follow-up of the progression of CTDs, and the assessment of the efficacy of novel therapeutic approaches in the future.
Dr. Laura Muiño Mosquera, MD (Ghent, Belgium) : Cardiovascular Follow-up in CL
Cutis Laxa disorders usually present cardiovascular issues that need a specific follow up.
Various devices can be used such as echocardiography, CT-Scan and MRI.
Each one of those devices has its pros and cons and must be chosen according to what is examined.
Prof. Dr. Bert Callewaert (Ghent – Belgium) : CL Classification and Guidelines for Global Management
This new classification will simplify the diagnostic process and identify relevant Cutis Laxa subgroups with regard to management and clinical research.
In addition, identification of the underlying genetic defect may end the diagnostic odyssey, further stratify management, and may provide (im)partial answers to future health issues.
Furthermore, it provides answers to potential recurrence risks in the offspring of patients and relatives as well as the use of diverse reproductive options.
Finally, connecting with peers provides support and encourages participation into patient-centered research aiming at a better quality of life and-hopefully- more directed therapeutic options.
