Pregnancy and Family Planning in Rare Disorders

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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.

cmgg-Pr Bert CALLEWAERT

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

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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

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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/)

FIMARAD Annual Meeting

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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

Cutis Laxa : What’s new

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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..

Infographics

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 5 % of the global population are suffering from a rare disorder

Equity for people living with a rare disorder means equitable access to diagnosis, treatments, care, social protection and opportunities

300 million people worldwide live with a rare disorder. That is equivalent to the population of the 3rd biggest country.

CONECT PROJECT

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After two years of hard work, the CONECT project (Cardio-Ocular Network for Connective Tissue disorders) has come to the end of its funding.

It was important to meet to thing about the future of CONECT and the funding it requires, but also about common projects that may concern some of  CONECT’s members. This is why we gathered together in Philadelphia 24th to 26th July.

Besides the pleasure to see us without any screen and sharing special moments, we had a whole day of work and reflection about future projects.

 

They are still in preparation, but I will certainly have the opportunity to let you know about them in future issues of CLI-News. It also was very important to exchange and see how our lives follow similar and parallel pathways.

The growing role of patient groups in healthcare research.

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Patient groups contribute to research in three different ways :

  • In clinical trials and real world evidence : The groups offer a unique perspective and act as research subjects, advisors, reviewers, and even researchers. They can be involved at any stage of clinical trials from the pre-approval and design to making sure the research results reach their patient community.
  • In Health Technology Assessment (HTA) : This is a systematic process that evaluates technologies like medicines and medical devices. The assessment determines if they are clinically effective, cost effective or have any social/ethical impact. Patients and patient groups are increasingly involved in the process, providing insight into their condition and the impact of new technologies.
  • In Regulatory decisions : Patient groups are involved in regulatory processes offering real-world evidence for better medical regulation. In Europe, their views are crucial for transparent communication on medicines and valuable input into the review of information on medicines like package leaflets and safety communications.

Read the article published by Patientview in February 2024 (in English)