World population affected by a Rare Disease

New evaluation of the world population affected by a Rare Disease :

In an article published by Orphanet, Orphanet Ireland and Eurordis, the prevalence of rare diseases is of 3,5 to 5,9 % of the worldwide population.

Rare cancers, infectious diseases and poisoning are excluded from this prevalence.

Thus there is an approximate average number of people affected by a rare disease of 300 million worldwide.

(©orphanews 2019.10.08)

ERN-Skin Board Meeting 2019

ERN-Skin Board Meeting in Necker Hospital in Paris.

Two days of intense work, whether in plenary session or in thematic groups.

 

Patient representatives could express their wishes and dialogue with doctors and researchers to establish together the roadmap for the coming years.

There is a huge amount of work to do but our will and synergy will allow diagnosis, care and treatment for patients to improve at the European Union level

 

Rare dermatologic diseases are neglected in drug development

Rare dermatologic diseases are neglected in drug development

(© Orphanews 2019.04.12)

A new study on rare dermatologic disease show that they have been rather neglected compared to other conditions.

Indeed, out of 428 rare dermatologic diseases, the paper finds that only 41 diseases (10%) were undergoing a total of 255 active clinical trials.

Of those trials, 104 (41%) were industry-funded. As a whole, phase 2 and 3 clinical trials were conducted for 5% only of rare dermatologic diseases.

These extremely low numbers indicate that very few are likely to reach regulatory approval.

The authors explain this lack of investment from the pharmaceutical sector by expected lower economic benefits associated with rare dermatologic diseases, and the lack of knowledge regarding skin disease pathophysiology, which then results in greater difficulties in establishing research project and demonstrating its efficacy.

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).

Prevalence of Cutis Laxa

Orphanet has just issued the new figures of rare disorders prevalence (number of birth/ 100 000).

https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Below are the figures for Cutis Laxa (PN* means at birth in Europe).

A New Type of Cutis Laxa

In March, the American Journal of Medecine Genetics published an article showing that a mutation on the gene PTDSS1 leads to a very rare type of Cutis Laxa :  Lenz-Majewski Syndrome (LMS) . It includes Cutis Laxa with growth delay, dwarfism and intellectual delay. According to this study of 3 cases, this is a new type of Cutis Laxa that needs to be added to those already identified.

cmgg-Pr Bert CALLEWAERT

Research on Cutis Laxa in Europe

ERN-Skin’s aims are, among others, to improve patients’ follow-up and to help research. Within this framework, it is essential that patients, as well as doctors concerned by Cutis Laxa, help research projects. No research can be done without everyone’s involvement.
If you wish to take part in research on Cutis Laxa in Europe, please get in touch with the coordinator concerned with Cutis Laxa :

Pr Bert CALLEWAERT Read more

Dr Pascal Sommer took part in CNRS forum

Dr Pascal Sommer took part in CNRS (French National Centre for Scientific Research) forum « What remains to be discovered ? ». Everyone knows that our organism will diminish with aging. Why do physiological systems progressively diminish with time ? Are we genetically programed to age ? What are the links between cancer, neurodegenerative disorders and aging ? Why do certain species age more quickly than others ?

If researchers are trying to better grasp the causes and consequences of aging, they are also developing solutions to study, protect, stimulate and even replace elastic fibers of viscoelastic components of our body.

You can listen (in French) to the whole discussion from this forum on  :

New mutations (ATP6V1E1, ATP6V1A)

ATP6V1E1 or ATP6V1A, are the new mutations recently published by a team of researchers including, among others, les nouvelles mutations publiées par une équipe de chercheurs incluant, entre autres, Mmes Gardeitchik, Mohammed, De Paepe, Malfait and Morava as well as Messrs Kornak, Wevers and Callewaert, who are researchers we are in contact with.
Those mutations can be included in Autosomal Recessive Cutis Laxa type 2 (ARCL2). They lead to Glycosylation Abnormalities (CDGs).