6th CUTIS LAXA DAYS
SAVE THE DATES
The 6th Cutis Laxa Days will be held at the University Hospital of Ghent( Belgium)
on 14th, 15th and 16th September 2022
RARE SKIN DISORDERS AND COVID-19 : An observationnal study
RARE SKIN DISORDERS AND COVID-19
An observational study was initiated by the European Reference Network ERN-Skin and the French Health Network for Rare Skin Disorders (FIMARAD) :
« COVID-19 and rare skin diseases. European observational study (data research) during an epidemic”.
It concerns paediatric and adult patients with rare skin diseases and suspected or confirmed COVID-19 infection who consulted a medical team that is part of the ERN-Skin or FIMARAD. Professor Christine BODEMER (Hôpital Necker-Enfants Malades – Paris, France christine.bodemer@nck.ap-hop-paris.fr ) is the principal investigator..
The main objective of this European observational cohort study (research data) is to determine the impact of a COVID-19 virus infection in a cohort of patients with rare skin diseases and particularly whether these rare diseases and their treatments are risk factors of infection severity
Acquired Cutis Laxa associated with monoclonal gammapathy or multiple myeloma
A possible improvment of the symptoms in Acquired Cutis Laxa associated with monoclonal gammapethy or multiple myeloma:
A haematologist from Sao Paulo (Brasil) has had very satisfactory results in two cases with an autolog bone marrow transplant.
For those two patients the results were more than encouraging though we certainly cannot talk about treatment or cure yet.
Many studies and therapeutic trials are still necessary to get there.
Nevertheless this is a huge leap for those patients
RESEARCH ON ACQUIRED CUTIS LAXA
A scientific study on Acquired Cutis Laxa (ACL) is led by
Pr Bert CALLEWAERT
Center for Medical Genetics – Ghent University Hospital
De Pintelaan 185 – B-9000 Gent
Email : Bert.Callewaert@Ugent.be
This type of Cutis Laxa has never been studied before.
It is a great opportunity to learn more about it : how it appears, what are its causes and maybe a first step to treatment.
Worldwide patients with ACL can take part in it. The doors of hope are opening up for them.
ERN-Skin Annual Board Meeting 2020
2nd October 2020 : ERN-Skin annual Board Meeting was a great success : 4 new affiliated partners joined, coming from 4 countries not yet represented in our ERN ;
the results of the ongoing work,
and especially the annoucement that Cutis Laxa is one of the 10 disorders selected by the coordinators of the subthematic groups that will be prioritized for the developpment of clinical practice guidelines/clinical decision tools-
these show show the dynamism of ERN-Skin.
The patient representatives (ePAGs) presented their work too, especially the « Patient Journey » for several of the disorders concerned by ERN-Skin.
ERN-Skin Board Meeting
On 2nd october 2020, ERN-Skin held its annual Board meeting, online, due to the pandemic. We missed individual discussions but appreciated the very interesting presentations:
2020 success and clinical practice guidelines
Covid-19 observational study SPOT 2021 steps
Cutis Laxa success
Patient Representatives work in 2019/2020
ERN-SKIN TRAINING SESSION IN GHENT (Belgium)
16th December : ERN-Skin, training session in Ghent (Belgium).
Organised by Pr Bert Callewaert, this session included a whole chapter dedicated to Cutis Laxa and all the scientific progress about it. See below “What’s new about Cutis Laxa».
Other pathologies were also presented and patients representatives took part in a panel discussion « Patients’ burden : What healthcare professionals need to know ? ».
What’s new about Cutis Laxa
During the training session in Ghent, the first part of the morning was almost totally dedicated to Cutis Laxa.
Several cases were presented by young doctors.
An overview talk on Cutis Laxa presented the clinical classification of Cutis Laxa disorders. Cutis laxa has an extensive clinical and molecular heterogeneity.
Based on a flowchart addressing the presence or absence of the main clinical symptoms, over 90 % of the people suffering from Cutis Laxa are correctly classified.
The main symptoms are: arterial tortuosity, emphysema, wrinkled/lax skin, neurological issues with or without intrauterine growth retardation (IUGR). In addition to those main symptoms, minor criteria are suggested for each type: arachnodactyly, aortic aneurysm, aortic stenosis, respiratory distress, diverticula, hearing loss, large anterior fontanelle, joint contractures, hip dislocation or ataxia.
The classification was based on a ‘learning’ cohort of patients known to the Ghent University Hospital. Refinement of the classification is ongoing based on a confirmation cohort from literature (650 patients). Patients are classified based upon clinical examination and the main symptoms into major groups. Further refinement based on the minor criteria will eventually be able to predict the causal gen in over 95% of patients.
As an example, a patient with a lax skin, neurologic issues, intrauterine growth retardation as well as hip dislocation and ataxia, associated with ALDH18A1 mutation, will be diagnosed with Autosomal Recessive Cutis Laxa Type 3 or Syndrome De Barsy (ARCL3).
This new classification will help to a quicker diagnosis, interpretation of next-generation sequencing data and provide an opportunity of specific management and care for each type of Cutis Laxa.
Ghent University welcomed this session in its historic buildings.
Pure marvel, as is all the city of Ghent..….
EUROPEAN CONFERENCE ON RARE DISORDERS
European Conference on Rare Disorders (ECRD) on 14th and 15th May which gathered together over 1,500 people from 57 countries, was held online as many other event in 2020.
Even without face to face meetings and gathering it was a real success and we learnt so much.
Dill Extract Induces Elastic Fiber Neosynthesis
Dill Extract Induces Elastic Fiber Neosynthesis and Functional Improvement in the Ascending Aorta of Aged Mice with Reversal of Age-Dependent Cardiac
Hypertrophy and Involvement of Lysyl Oxidase-Like-1
Wassim Fhayli 1, Quentin Boëté 1, Nadjib Kihal 2, Valérie Cenizo 3, Pascal Sommer 4,
Walter A. Boyle 5, Marie-Paule Jacob 6 and Gilles Faury 1,*
1 Univ. Grenoble Alpes, Inserm, CHU Grenoble Alpes, HP2, 38000 Grenoble, France;
wassimfhayli@gmail.com (W.F.); boete.quentin@gmail.com (Q.B.)
2 Laboratoire de Phytochimie et de Pharmacologie, Département de Chimie, Université de Jijel, Jijel 18000,
Algeria; nadjib.kihal@icloud.com
3 L’Occitane en Provence, 04100 Manosque, France; val.cenizo@gmail.com
4 Institut de Biologie et Chimie des Protéines UMR5305—LBTI, CNRS, 69367 Lyon, France;
pascal.sommer@univ-amu.fr
5 Department of Anesthesiology and Critical Care Medicine Division, Washington University School of
Medicine, St Louis, MO 63110, USA; boylew@wustl.edu
6 INSERM, U1148, and Hopital Bichat-Claude Bernard, 75018 Paris, France; marie-paule.jacob@orange.fr
* Correspondence: gilles.faury@univ-grenoble-alpes.fr; Tel.: +33-4-76-63-75-39
The only article describing the stimulation in vivo of the protection and synthesis of elastic fibers.
Full article : http://www.cutislaxa.org/wp-content/uploads/2020/02/Fhayli-et-al-2020-biomolecules-Dill-mice1.pdf
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).