14thJanuary : Annual Meeting
10th March: Scientific Day
27th September : Webinar of the Thematic group concerned with Cutis Laxa
18th January : last meeting to establish the criteria on which ERNs will be re-assessed and 15th June : final document.
21st January meeting of the Organising Committee and 31st January Good Practice webinar
27th to 30thJune European Conference on Rare Disorders
18th May Annual General Meeting
The 1st WCRSD (First International Congress on Rare Skin Disorders) was held in Paris
7th to 9th June 2022.
Organised by ERN-Skin, René Touraine Foundation, Fimarad as well as Patients Representatives and Globalskin for the Patient Session, it was a huge success !!
With a successful Patient Forum,
Presentation on Cutis Laxa new classification,
It was also the occasion to meet with other organisations.
Le Monde – Tribune Grand Angle :
What about recognition for rare disorders representatives ?
Le Trombinoscope :
Calling for recognition of rare disorders representatives
28th February 2022 :
Grand Angle : Journal Radiorg (Belgium)
Testimony with Amber’s mother on the occasion of Rare Disease Day
Winter 2022 :
La Gazette Bonsoise : Associations’ Life : Cutis Laxa Special
Cutis Laxa Internationale now gathers 501 patients coming from all parts of the world:
Kim, Amina, Nura Bay, Linda, Dawson, Riley, Cecelia, Rai, Sutton, Bodhi, Katia, Heather, Inter, Melany and her daughter Lilian, Husseini, Xenia as well as Samardashi, Arthur, Stacy, Amber and Ole joined us lately.
Our Big Cutis Laxa Family is glad to welcome them and give them all the help and support they need.
16th December2021 The United Nations General Assembly voted the First Reloution for People Living With a Rare Disorder
After a first adoption by consensus in November, the final text became an official United Nations Resolution with the vote during the General Assembly on 16th December.
Rare Disease International, together with Eurordis and the Non Governemental Organisations (NGO) Committee for Rare Disorders advocated relentlessly with United Nations members to elaborate the resolution “Addressing the Challenges of Persons Living with a Rare Disorder and their Families”. This hard work has now been rewarded.
and elsewhere
Australia : Government is funding the « RArEST » initiative for 3 years with an amount of $ (AUD) 1.9 million. This initiative is led by Universities and the Federation « Rare Voices Australia », to improve Education, Support and Training courses for Rare Diseases . (©Orphanews 16th November 2021)
The UN calls on France to completely change its idea of disability. They especially tackle too « medical » approach and « systematic » institutionalisation. (© Hospimédia)
Ratification of the African Medicines Agency (AMA) Treaty. One of its priorities will be to act against sub-standard and fake medicines.
And also, the First African Summit on Rare Diseases was held in Accra (Ghana) on 1-3 December. The main theme was to engage in a dialogue between all stakeholders in the national and regional rare disease eco-system in Africa. (©Orphanews 2nd December 2021)
In the USA : Establishment of 31 Centres of Excellence for Rare Disorders. They will cover several specialties and provide rare disease patient education, training courses for physicians, and will contribute to enhanced research on rare disorders by promoting collaboration in this field. (©Orphanews 02 Décembre 2021)
In Italy : Adoption of a National Law for Rare Diseases. This law provides a definition of rare diseases as one with a prevalence of less than five patients per 10 thousand. This definition fits in with the one used at the European level. The law also provides for the establishment of a National Committee for Rare Diseases within the Ministry of Health. (©Orphanews 2nd December 2021)
4 new genetic mutations were recently found:
LOX : This gene of the 5-Lysyl oxidase family is involved in initiating of cross-linking of Elastin and Collagen. The mutation leads to cardiovascular, respiratory and bone symptoms, especially fractures. This is why it was initially considered to be a new type of osteogenesis imperfecta (glass bones disorder). But the discovery of fragmented elastic fibers allowed this mutation to be included in Cutis Laxa Syndroms. It is a recessive form.
EFEMP1 (Fibulin3): The consequences, besides lax skin, of this mutation are multiple hernias and joint hypermobility as well as mild intellectual/learning disability. It is a new recessive type of Cutis Laxa.
LTBP1 : This mutation is distinguished by lax skin, inguinal hernias, craniofacial dysmorphology, various heart defects and prominent skeletal features (short stature, brachydactyly, craniosynostosis,..). It is another new recessive type of Cutis Laxa.
PI4K2A : This 4th new mutation is characterised by the following clinical signs : lax skin, involuntary movements (neurological issue), dysmorphism and intellectual/learning disability. It is also a recessive type.
A 5th new mutation has recently been found and we are longing for it to be published so we can tell you about it.
Thanks to all the researchers for their amazing work in basic knowledge of Cutis Laxa. All these findings are essential to give patients better care and offer them a better quality of life.
The workgroup of FIMARAD (Rare Dermatologic Disorders French Network), of which Marie-Claude Boiteux is a member, is interested in Diagnosis Odyssey. An important piece of work for Cutis Laxa was presented during the FIMARAD meeting in November.
Due to the great diversity of types and symptoms, the quality of the healthcare journey for CL patients is intimately linked to diagnosis. So, it is not enough to diagnose a Cutis Laxa one needs to be really precise about which type of CL with the help of a molecular analysis (genetic testing).
The quality of the patient’s healthcare as well as the quality of their life depend on the swiftness of the molecular diagnosis. In France, a number of systematic tests are carried out immediately after birth to evaluate the newborn’s health (hernias, tone, mobility, hips,etc)..
A table has been created associating these systematic examinations with various CL symptoms to allow a faster clinical and molecular diagnosis. So, for instance, if the systematic examination of a newborn shows hip dysplasia, the next simple step is to see if the skin is lax and the newborn has hernias to suspect ARCL2A or Geroderma Osteodysplastica. The diagnosis can then be confirmed with a genetic test. Concordance of symptoms is the first step to a faster diagnosis.