Cutis Laxa : What’s new

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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..

Infographics

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 5 % of the global population are suffering from a rare disorder

Equity for people living with a rare disorder means equitable access to diagnosis, treatments, care, social protection and opportunities

300 million people worldwide live with a rare disorder. That is equivalent to the population of the 3rd biggest country.

CONECT PROJECT

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After two years of hard work, the CONECT project (Cardio-Ocular Network for Connective Tissue disorders) has come to the end of its funding.

It was important to meet to thing about the future of CONECT and the funding it requires, but also about common projects that may concern some of  CONECT’s members. This is why we gathered together in Philadelphia 24th to 26th July.

Besides the pleasure to see us without any screen and sharing special moments, we had a whole day of work and reflection about future projects.

 

They are still in preparation, but I will certainly have the opportunity to let you know about them in future issues of CLI-News. It also was very important to exchange and see how our lives follow similar and parallel pathways.

World Congress on Rare Skin Diseases

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The most important event for rare skin disorders was held in Paris from 12th to 14th June.

The  World Congress on Rare Skin Disorders (WCRSD) gathered together doctors, researchers,patients and industries.

 The patient’s point of view was at the core of common interests with a plenary session organised by the patients which attracted over 150 participants.

The session gave a voice to patient representatives coming from South America, Africa, Nepal and the Philippines.

Two other sessions provided a large space for patients’ participation.

One was dedicated to Patient Education Programmes

and the other touched on the future and how to increase our togetherness to improve diagnosis and treatments.

These were three intense days full of exchanges, discussions and future projects for patients’ improved condition.

 

 

The growing role of patient groups in healthcare research.

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Patient groups contribute to research in three different ways :

  • In clinical trials and real world evidence : The groups offer a unique perspective and act as research subjects, advisors, reviewers, and even researchers. They can be involved at any stage of clinical trials from the pre-approval and design to making sure the research results reach their patient community.
  • In Health Technology Assessment (HTA) : This is a systematic process that evaluates technologies like medicines and medical devices. The assessment determines if they are clinically effective, cost effective or have any social/ethical impact. Patients and patient groups are increasingly involved in the process, providing insight into their condition and the impact of new technologies.
  • In Regulatory decisions : Patient groups are involved in regulatory processes offering real-world evidence for better medical regulation. In Europe, their views are crucial for transparent communication on medicines and valuable input into the review of information on medicines like package leaflets and safety communications.

Read the article published by Patientview in February 2024 (in English)

ELASTICITY OF LIFE

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This is the title of the book recently published, in French and in English, by Dr Pascal SOMMER, Emeritus Research Director oat the French National Center for Scientific Research (CNRS).

He has been following Cutis Laxa and our association for more than 20 years.

The book is available online, printed or downloadable:

HERE

Understanding mothers’ experiences through narrative analysis

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A study was recently published in « Qualitative Health Research ». Even if this study was made for Prader Willy Syndrome, the results and recommendations that result can apply to any rare disorder. Researchers identified themes focusing on the complexity and rarity of the disorder, including the desire to be normal, how ordinary becomes extraordinary, isolation, behavior and normative standards, and alternative stories of mothering. Based on these results, four key recommendations could be established:

  • Recognition of the challenges of mothering a child with complexity;
  • Moving beyond functionality and impairment to participation and quality of life;
  • Considering anew how to tell the families stories and their need for support ;
  • Engaging with mothers to determine care priorities.

The findings of this study highlight how more qualitative research methods such as narrative analysis can be used in rare disease research to identify care and policy priorities to improve the lives of people living with a rare disease and their families.

(orphanews international 2024.02.13)

Distribution of CL according to Types and Countries

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Our census of  Cutis Laxa patients allows today to establish

its breakdown by known types and also by countries

You can find here the table updated on 2024, February 12th

Survey ALL

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Carried out between January and April 2023, together with EMMA Society, this international survey evaluates the prevalence (number of cases among a defined population), impacts, behaviours and needs of different skins and skin disorders depending on geographical areas, countries or complexion.

It included 50,552 participants (adults ≥16 yo) in 20 countries (China, USA, Brazil, India, Australia, France, Italy, Canada, Denmark, Germany, Israel, Kenya, Mexico, Poland, Portugal, Senegal, South Africa, South Korea, Spain and United Arab Emirates) distributed across the 5 continents.

It is therefore the biggest private database in  dermo-cosmetics.

Take a look at all the results on this page : https://www.changer-de-regard.com/#all