Marie-Claude Boiteux was interviewed for the videos used during the Masterclass at the University for Patients in La Sorbonne (in French) (https://universitedespatients-sorbonne.fr/). The title of the presentation is “From loneliness to an International Organisation”. see it here (in French)
26th November 2024
Pfizer Patient Forum
Marie-Claude Boiteux participated in a roundtable on « Minimising obstacles and maximizing impact: key learnings from pilot projects and advice for action”.
A huge THANK YOU to the leading team of the sport events organised in Sireuil, France (Trail du Brin d’Aillet and Triathlon). Thanks for faithfully supporting us, thanks to the energy you put in organising those events, thanks to the volunteers who work with you and support those sport events.Thanks also, of course, to all the sportsmen/women who participate: you are handing over € 2,500. That is enormous for us !!!
Thanks to you, we will be able to help patients come to Ghent, Belgium, to attend the Cutis Laxa Days and benefit from a consultation with Pr Bert Callewaert, worldwide expert for Cutis Laxa.
On behalf of of all the patients, I am deeply grateful to you.
Marie-Claude Boiteux, Chair
08th November 2024
FIMARAD Annual Meeting
Patient organisation representatives attended the Annual Meeting of the French Network for Rare Skin Disorders.
On this occasion, they especially mentioned the progress of the working group « Diagnosis roving and impasse » with the analysis of the patient survey. The results of this survey are planned for publication
28th-31st October 2024
European Elastin Meeting (EEM 2024) in Reims.
All the scientists working on Elastin were gathered together on the initiative of the teams at Reims University.
These days were fascinating, instructive and created therapeutic hope.
To top it all, it was a great joy to meet Pr Zsolt URBAN from Pittsburgh as well as researchers from Pr Romain DEBRET’s team in Lyon.
All the exchanges, shared moments, the possibility to give patients’ point of view, as well as relaxing times: these were the keys to the success for these 3 days. We also know that future collaborations will result from them.
It was really important to be there.
24th-25th October 2024
ERN-Skin Board Meeting at “Institut Imagine” in Necker Hospital in Paris.
This important annual gathering allow us not only to meet again and make time for face-to-face exchanges on future projects, but also to take stock of what we have achieved during the past year.
16th -17th Septembre 2024 the event “Exp’Ose Ta Peau” (dare to show your skin) was organised in Roubaix by LéoPharma Laboratory. Located in front of the town hall, we were able to raise awareness on skin disorders with passers-by.
Then, in December, during the Dermatology Days of Paris, « Exp’Ose Ta Peau » had, again, a privileged place.
Cutis Laxa update
During the World Congress in Paris in June 2024, an update of the knowledge on Cutis Laxa was presented.
Pathophysiology of CL is represented as a defect of the elastic fibers. In the inherited forms, it is a defect of synthesis/assembly of elastic fibers, due to genetic mutations. When looking at the acquired form of Cutis Laxa, the process is different as it is instead a destruction of elastic fibers that were , at first, normal.
As of today, 18 sub-types have been identified in the inherited forms, together with related disorders such as Arterial Tortuosity Syndrome or MACS Syndrome. These identifications allow a new classification.
The forms with prominent connective tissue features (Tortuosity, Skin, Bones, Emphysema) and those with main neurological features with or witout intra-uterin growth retardation are still there. The validation of this new classification is still ongoing. It will be a better tool for diagnosis, integrating clinical data, ultrastructural findings and pathophysiology. It will be the basis for novel guidelines..
Daniella, Lucie, Sara, Jamila, Shelley, MDMBen, Mirxan, Maya and Andres have joined us.
We are now in contact with 551 patients and families.
Their isolation and loneliness facing Cutis Laxa has disappeared.
Welcome to you all, we are happy you joined our Big Cutis Laxa Family.
On 30th August 2024, Rare Diseases International (RDI), the Arab Republic of Egypt, the State of Qatar and Spain co-hosted a public webinar on the campaign for a World Health Assembly (WHA) Resolution on Rare Diseases in 2025. The event featured discussions of why such a resolution is critical, what it can provide to people living with a rare disease (PLWRD) regionally and nationally and what needs to be done in order for the campaign to succeed.
Despite recent global advances in recognizing the unmet needs of PLWRD, notably the 2021 UN Resolution on Persons Living with a Rare Disease and their Families, the community still faces a number of significant challenges. In particular, limited access to treatments and care, delayed diagnosis, and elevated financial burden. These struggles are often exacerbated in low- and middle-income countries.
A WHA Resolution on Rare Diseases would help address these challenges by building on the momentum generated by the UN Resolution and instituting a comprehensive, health-focused global framework for rare diseases with clear targets and deadlines for all WHO Member States. The campaign for such a Resolution was initially spearheaded by RDI, with Egypt, Qatar, Spain, Malaysia, and France agreeing to act as co-sponsors. (©orphanews 2024.09.18)