Pregnancy and Family Planning in Rare Disorders

/in , , /by

Orphanet Journal of  Rare Diseases published the results of the survey for healthcare professionals « Pregnancy and Family Planning in Rare Diseases”

(read the publication)

 Written by the European Reference Networks (ERNs) transversal working group that brings together patient representatives (EPAGs) (of which Marie-Claude Boiteux) and healthcare professionals (HCP) from 20 ERNs . After identifying 7 transversal domains to be explored in the survey (Fertility preservation, Pre-conceptional counseling, Family Planning counseling, Pre-implantation diagnosis, Prenatal diagnosis, Pregnancy monitoring, Post pregnancy monitoring/ lactation monitoring/counseling/newborn management), the group established closed and open-ended questions for each domain. These questions explored the level of importance, the activities performed by the center, the clinical challenges, the good practice and the educational activities related to the selected topics.

HCP, from 24 different countries answered the survey.

“Pre-conceptional counselling” and “pregnancy monitoring” were mentioned as important/very important at 83.3% and 75.6%, respectively. And « Family Planning Counselling » was considered very important/important at 71,6%.

The conclusions of this survey are pointing unmet needs for HCPs, including the need to improve communication between different HCPs, the lack of predefined organizational pathways, the lack of availability of expert HCPs for some pregnancy-related issues and the need to streamline the care provided among different European countries.

In addition, the survey underlined the need to improve the educational activities provided to ra

re disease patients.

Overall, the results pointed out the need to educate both physicians and patients on the basis of the emerging unmet needs. Online resources can be an excellent educational tool, they may help in disseminating and standardizing educational activities in order to homogenize the information for HCPs and patients.

Therefore, initiatives in this direction by scientific societies, ERNs and patient associations should be promoted and encouraged

A second questionnaire had been sent to patients. The answers are being analysed and should be soon published. It will then be possible to compare HCPs’ and patients’ views.

ERN-Skin Activities

/in , , , /by

16th January 2025 : Executive Committee (on line)

This annual meeting highlights the main aims, and projects for the coming years

2nd-3rd July 2025 : Scientific Days

The latest research on each pathology, clinical cases and the work of young researchers were presented so we would be updated on the work and projects led in our European network.

The work done by patient representatives was also honored with Marie-Claude Boiteux’s presentation of the publication « Pregnancy and Family Planning in Rare Disorders – A Heathcare Professionals survey » (see the post on this survey)

cmgg-Pr Bert CALLEWAERT

Astrazeneca awarded its « Scientific Prize 2024 » to Pr Bert Callewaert .

/in , , , /by

On 12th December 2024, Astrazeneca awarded its « Scientific Prize 2024 » to Pr Bert Callewaert .

We are very happy and proud that Pr Callewaert is one of the rare worldwide experts on Cutis Laxa. He is awarded the prize for his research on congenital rare diseases of elastic fibers, including Cutis Laxa and profibrotic diseases such as Myhre’s syndrome. His research has contributed to the molecular and clinical characterization of these diseases.

Together with his team, he works on very rare forms of Cutis Laxa and identified several new genes and entities within the Cutis Laxa spectrum.

« Elastic fibers play a crucial role in the elasticity and mechanical properties of tissues such as the skin, lungs and blood vessels. We studied cutis laxa, a group of conditions characterized by loose and excessive skin folds, and Myhre’s syndrome, in which tissues harden or heal, to understand the structure and function of elastic fibers. This knowledge offers the possibility of finding treatments for age-related disorders. » (Pr Bert Callewaert ©Fondation AstraZeneca)

The AstraZeneca Award recognizes the innovative nature of his work and his contribution to the advancement of science.

🏆

Thesis on cases of Cutis Laxa

/in , , /by

Dr Thatjana Gardeitchik was a successful candidate with her thesis defence on 9th September 2024.

The title is: « Curious cases of Cutis Laxa , Insights into the diagnostics and patho-mechanisms of metabolic cutis laxa syndromes”.

You can find it online, in English only

(https://www.globalacademicpress.com/ebooks/thatjana_gardeitchik/)

Dermatology Days of Paris

/in , , , /by

03rd-06th December 2024

Dermatology Days of Paris (JDP)

Thanks to our stand during the JDP, I have had the great joy, more than 30 years later, to see again Dr Karim CHERTI.

At that time, he was a junior doctor in the genodermatosis unit at Hôpital Saint Louis in Paris. He was a member of the team who diagnosed my daughter, Cécile, and wrote his thesis on her case.

It was a very moving moment for both of us.

FIMARAD Annual Meeting

/in , , , , /by

08th November 2024

FIMARAD Annual Meeting

Patient organisation representatives attended the Annual Meeting of the French Network for Rare Skin Disorders.

On this occasion, they especially mentioned the progress of the working group  « Diagnosis roving and impasse » with the analysis of the patient survey. The results of this survey are planned for publication

European Elastin Meeting

/in , , , /by

28th-31st October 2024

European Elastin Meeting (EEM 2024) in Reims.

All the scientists working on Elastin were gathered together on the initiative of the teams at Reims University.

These days were fascinating, instructive and created therapeutic hope.

To top it all, it was a great joy to meet Pr Zsolt URBAN from Pittsburgh as well as researchers from Pr Romain DEBRET’s team in Lyon.

All the exchanges, shared moments, the possibility to give patients’ point of view, as well as relaxing times: these were the keys to the success for these 3 days. We also know that future collaborations will  result from them.

It was really important to be there.

ERN-Skin Board Meeting

/in , , , /by

24th-25th October 2024

ERN-Skin Board Meeting at “Institut Imagine” in Necker Hospital in Paris.

This important annual gathering allow us not only to meet again and make time for face-to-face exchanges on future projects, but also to take stock of what we have achieved during the past year.

Cutis Laxa : What’s new

/in , , , /by

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..