6th CUTIS LAXA DAYS
13th to 16th September 2022
13th and 14th September
CLINICS at the Center for Medical Genetics
in Ghent University Hospital
(See the report and photos here)
MESSAGE FROM THE CHAIR OF CUTIS LAXA INTERNATIONALE
What a pleasure to meet again, especially after the Covid years that kept us away from each other!
The 6th Cutis Laxa Days were a huge success !!
It was the first time so many patients (23) gathered together;
the first time so many countries (11) were represented;
and the first time also that so many doctors and researchers interested in Cutis Laxa attended the Conference.
It is always very difficult to account for what happened during four days, in the most accurate way possible, especially when they were so intense : many moments of strong emotion, much information shared, much joy, much fun, but sadness too ………
Photos are witness to all this, what Cutis Laxa Days represent.
Marie-Claude Boiteux, Chair
SYMPOSIUM AND RESEARCH COLLABORATION
In the beautiful historical buildings of Ghent University, participants were more numerous than ever before. We were able to organize this symposium thanks to funding from Ghent University, EADV, ERN-Skin, FWO and the European Programme EJPRD.
It was really moving to see such a crowded room !
Moderated by Paul De Brem, scientific journalist who has faithfully supported us since the Days in Annecy, this event allowed researchers and health professionals coming from Europe, Turkey and the USA to share with us the most recent information on Cutis Laxa.
Thursday
15th SEPTEMBER 2022
SYMPOSIUM
(to see the abstracts of the presentations, click on their titles)
SESSION I: Diagnosis and General Management in CL
- Prof. Dr. Bert Callewaert, MD (Ghent, Belgium): Classification of CL disorders and General Management Guidelines
- Dr. Laura Muiño Mosquera, MD (Ghent, Belgium): Cardiovascular Follow-up in CL
- Mrs. Klara Farkas, MD (Budapest, Hungary): Potential applications and value of novel skin imaging techniques in connective tissue disorders
- Prof. Dr. Christine Bodemer, MD (Paris, France): Embedding CL in ERN Skin & ERN-Ithaca
SESSION II: Pathophysiology and State-of-the-art in the Different CL Subtypes
- Prof. Gerhard Sengle (Cologne, Germany): Matrix Biology – What can we learn from animal modelling?
- Mrs. Aude Beyens, MD (Ghent, Belgium): Structural Defects of Connective Tissue Proteins and CL
- Prof. Dr. Uwe Kornak, MD (Göttingen, Germany): The Secretory Pathway, Glycosylation, and Cutis Laxa
SESSION III: Pathophysiology and State-of-the-art in the Different CL Subtypes (continued)
- Dr. Thatjana Gardeitchik, MD (Nijmegen, the Netherlands): Neurometabolic Defects in Cutis Laxa
- Dr. Björn Fischer-Zirnsak (Berlin, Germany): The mitochondrion and Cutis Laxa
SESSION IV: Organization of Care
- Prof. Dr. Zsolt Urban (Pittsburgh, USA): American Cutis Laxa Clinics
- Mrs. Marie-Claude Boiteux (President Cutis Laxa Internationale): Patients’ and Caregivers’ Perspectives: Patient Journeys
- Mrs. Elif Yilmaz Gulec, MD(Istanbul, Turkey): Cutis laxa in Turkey: Challenges, opportunities, and collaborations
- Dr. Karolien Aelbrecht (Ghent, Belgium): Patient participation : a cornerstone !
OPENING RESEARCH COLLABORATION EVENT
Prof. Dr. Bert Callewaert: goals of the collaboration event:
- The current research landscape in cutis laxa
- Challenges for research in extremely rare disorders
- Leveraging (international) collaboration in cutis laxa research
- Including patient perspectives in cutis laxa research
- Setting forward short and longer term goals in research on cutis laxa
- Funding acquisition in an international context
WORKING GROUP CLINIC & RESEARCH
- Inventory of available expertise
- Inventory of ongoing research projects: sharing knowledge
- Establishing a nosology and guideline working group and working protocol
- Establishing an ‘ad hoc’ disease specific clinical care group
- Interoperability of local databases and biobanks
- Repurposing international initiatives such as Genematcher and Variantmatcher in a
disease specific umbrella. - Identifying future research collaborations
- Planning funding acquisition (innovative training networks, cost actions, …)
WORKING GROUP PATIENT ADVISORY BOARD
- General discussion of the results of the focus groups and the patient journeys
- Identifying the major disease burdens
- Identifying and formulating future needs research & care
- Identifying hinge points for patient advocacy in research
- Identifying opportunities for patient to involve in funding acquisition
ROUNDTABLE AND DISCUSSION
- Report from the working group clinic and research
- Report from the working group patient advisory board
- General discussion – future meeting
