GLOBAL RESEARCH ON THE IMPACT OF DERMATOLOGICAL DISEASES (GRIDD)

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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”

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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:

Cutis Laxa with lung and arteries symptoms

Cutis Laxa with neuro and skeleton symptoms

A NEW MUTATION : EMILIN1

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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.

 

Read the publication

Prof. Dr. Christine Bodemer, MD (Paris, France) : Embedding CL in ERN Skin & ERN-Ithaca

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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

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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

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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

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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.

16th September 2022 – Collaboration in Recherche

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The aim of this event dedicated to research was to set up collaborative research among researchers interested in Cutis Laxa, worldwide. It was also to ask patients to work together with researchers to let them know what main topics they would be interested in.

Pr Callewaert presented the main challenges, strength and weaknesses Cutis Laxa represents. Then Dr Jens Detollenaere talked about how patients’ participation is organised as partnership in research in Belgium

After working in 2 groups (clinic and research, and patients) with those interested in taking part in the research collaboration, we reported our work in a general session.

We ended this working day on research collaboration with the decision to set up an International Research Consortium on Elastic Fibers including a Patient Advisory Board. What a Success !!!!

 

13th and 14th September CLINICS

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Pr Bert Callewaert, Dr Karolien Aelbrecht, Mrs Deborah Wille and the full team of the medical genetics department in Ghent University Hospital welcomed us to allow patients to consult one-to-one in Genetics, Cardiology and Ophthalmology. They also had blood tests as well as a biopsy.

All those tests aimed at evaluating the consequences of Cutis Laxa on the organs examined, confirm the diagnosis initially given, allow molecular diagnosis when needed, inform patients on the medical follow up their case deserves, but also include all those willing to join the research programme led by Pr Callewaert.

      

Several rooms had been mobilized, as much for the consultations as to offer a waiting and resting room for patients and for children, whether patients or not, and their siblings to have a place to play.

We want to deeply thank Pr Callewaert and his team for their attentiveness, their patience, their commitment and their great expertise in Cutis Laxa.

Families’ thanks

“Cheers and thank you to Bert’s team. They were adorable and educationalist, together with a great medical expertise. We felt we were in good hands.”

“Activities for children were great, games and colour books, toy cars in the hospital and during the  symposium”

We also thank Ghent University Hospital for the catering.

Dr. Karolien Aelbrecht (Ghent, Belgium) : Patient participation : a cornerstone !

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Although the concept of patient participation still lacks of a clear definition, there is a well-supported consensus that it is the cornerstone of the bio-psycho-social perspective of our healthcare system and thus of a patient-centered approach in healthcare.

In this presentation, we will give an overview of what patient participation entails, what the importance is,

but also its challenges,

and how our multidisciplinary team implements the concept of patient participation in practice and research.