ARTERYLASTIC : First real therapeutic hope

ARTERYLASTIC : First real therapeutic hope for vascular issue in Dominant Cutis Laxa.

 

ARTERYLASTIC derives from researches lead in Lyon (France) by Dr Romain Debret. Originating from the idea that if one can make prosthetics for a joint, maybe we could make prosthestics for a failing elastin, this project is funded by the French National Agency for Research. Selected in 2018, it will start in January 2019.

The project involves 3 laboratories from the Rhône-Alpes area: Laboratory for Tissue Biology and Therapeutic Engineering (National Center for Scientific Research, Lyon), Laboratory for Hypoxia and Cardiovascular and Respiratory Physiopathologies (National Institute of Health and Medical Research, Grenoble), and Sainbiose Laboratory (National Institute of Health and Medical Research, Saint-Etienne).

The main aim of the project is to develop a synthetic elastic protein as medicine agent to improve or restore the vascular elasticity when it is failing in genetic disorders such as Cutis Laxa and Williams Syndrome, but also in non syndromic pathologies such as sleeping apneia.

This project aims to analyse the way the synthetic protein is acting and evaluate its efficiency in pertinent biological models.

The « DHERMIC » project, which preceded ARTERYLASTIC, already provided a wide set of solid data regarding the skin for the synthetic elastic protein. Recent preliminary results regarding the integration in blood vessels walls in fishes and mice are very promising.

An important part of the work will also be dedicated to the pharmacological formulation and certification to allow for the implementation of Clinical Trials at the end of the project (late 2021).

Welcome

NEW CONTACTS, FAMILIES’ NEWS

Since last July, Mina (Irak), Aimee (USA), Gül (Turquie), Rhett (USA), Benjamin (USA), Linda (USA), Graça Maria (Brésil), Raghad (Syrie/Turquie), Françoise (France), Mara (Roumanie), Heather (USA) and Daniel (Italy) joined us.

That is now 385 patients spread over 59 countries across 5 continents, suffering from Cutis Laxa and members of Cutis Laxa Internationale.

Welcome to all of you, to our big Cutis Laxa Family.

Once again we send our deepest sympathy to the family of Naomi, 4, gone too soon….……

“He is a real scamp”

12th January 2018 :

Article in Voralberg’ newspaper (Germany) about Mohammed after the video report.

Read the whole article at :

https://www.vn.at/lokal/vorarlberg/2019/01/11/er-ist-ein-richtiger-lausbub.vn

28th February 2019 : Rare Disease Day

Show your Rare, Show you care

28th February will be the International Rare Disease Day.

The 2019 theme will be “Bridging health and social care”. This special day will focus on bridging the gap between medical, social and support services in order to tackle the challenges encountered by people living with rare diseases and their families.

And also in 2018………

19th November 2018 in Sireuil (Charente – France), the Triathlon handed over a cheque for €900 to CLI. Many thanks to all the volunteers.

28th November 2018 in Grenoble (Isère – France), Preview  of the Film  « Announcing Disabilities »

8th December 2018  Telethon, The Walk for Rare Disorders in Paris (France) had been cancelled  for security reasons, but Sireuil (Charente – France) had its « Color-Run

        

8th December 2018 in Annecy (Haute-Savoie, France) Show and Sale of Malakof-Médéric

Mohammed’s new life in Germany

28 Décembre 2018 :

Mohammed’s new life in Germany (Mohammed is a Syrian refugee suffering from CL)

(broadcast in Arabic and English in some parts)

https://m.facebook.com/story.php?story_fbid=10217703840526118&id=1183293593

Paris Dermatological Days (JDP)

13th December 2018 in Paris, we ended the year on a high note, with Paris Dermatological Days (JDP).

It was a great opportunity for the French Federation for Skin to go back to work with a new Board of Directors,

new Committee

and new projects that are common to all dermatological diseases.

A great energy to lead us and carry patients’ voice high and strong.

UN Special Rapporteur calls for support for Rare Disease community

UN Special Rapporteur calls for support for Rare Disease community in report to UN General Assembly

Catalina Devandas, UN Special Rapporteur for the Rights of Persons with Disabilities, presented her report to the UN General Assembly. In particular, it states that the lack of accurate diagnosis and effective treatments for the majority of rare diseases is a global challenge. It calls on states to develop and implement policies and practices that target the most marginalised groups of people with disabilities (for example, people with multiple or severe disabilities and rare diseases) in order to improve equity in term of access to care.

(© Orphanews 2018.12.04)

Cross-border care : 10 patient errors

European Commission publishes 10 patient errors in cross-border care

This follows the European Commission’s recent report on cross-border care, which showed that there is still room for improvement in patient awareness of the existence of cross-border care and especially of national contact points. This top 10 includes:

  1. Not being informed on their rights to treatment abroad under EU law
  2. Not planning their trip thoroughly
  3. Leaving without prior authorisation
  4. Not being informed on the financial implications
  5. Traveling without first contacting the National Contact Point
  6. Traveling without the transfer of medical records
  7. Not taking possible language barriers into consideration
  8. Not arranging suitable medical follow-up
  9. Not presenting the required documentation needed to obtain reimbursement
  10. Not being informed on where and how to file a complaint

(© Orphanews 2018.12.04)