Dr. Karolien Aelbrecht (Ghent, Belgium) : Patient participation : a cornerstone !

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Although the concept of patient participation still lacks of a clear definition, there is a well-supported consensus that it is the cornerstone of the bio-psycho-social perspective of our healthcare system and thus of a patient-centered approach in healthcare.

In this presentation, we will give an overview of what patient participation entails, what the importance is,

but also its challenges,

and how our multidisciplinary team implements the concept of patient participation in practice and research.

Mrs Elif Yilmaz Gulec, MD (Istanbul, Turkey) : Cutis Laxa in Turkey : Challenges, Opportunities and Collaborations

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Our Cutis Laxa patients are usually referred to us during neonatal period or early infancy. Many are confused with progeria, a rarer but more famous syndrome, before admission.

Cutis Laxa needs a multidisciplinary approach, as soon as the diagnosis is made, the patient is referred to screening for possible accompanying organ disorders.

Since the molecular defects determines organ pathologies and prognosis, molecular diagnosis is made as soon as possible.

 

Mrs Marie-Claude Boiteux (Chair Cutis Laxa Internationale – France) : Patients’ and Caregivers’ Perspectives : Patient Journeys

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The « Patient Journey » is a personal testimony that reflects the natural history/needs of patients with a rare disease.

It represents the collective perspective on the burden of the disease and the needs of people with first-hand experience of living with a rare disease.

It is a baseline reference document for clinicians to develop a healthcare pathway and guidelines to address the identified needs.

Cutis Laxa is such an heterogeneous disease that we could not make only one « Patient Journey » but two to represent the specific needs of the patients with the different types of Cutis Laxa.

Prof. Dr. Zsolt Urban (Pittsburgh, USA) : American Cutis Laxa Clinics

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The study lead by Mrs Pooja Solanki from Pr Urban’s team is based on conversations she has had with patients who are members of the Cutis Laxa Facebook group.

The prerequisite being that interviewed people should speak English, the number of participants was therefore limited.

It is a qualitative study on the main issues faced by patients suffering from Cutis Laxa.

Dr. Björn Fischer-Zirnsak (Berlin, Germany) : The Mitonchondrion and CL

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The best known function of mithocondria is energy production (ATP synthesis) via the respiratory chain.

However, this organelle is also central in several metabolic processes like the tricarboxylic acid (TCA) cycle, the urea cycle and important for cellular stress response processes and programmed cell death.

This presentation will focus on the clinical differences between and within the single entities, discussed in relation to known and novel findings from cellular and animal models.

By this, an overview about the research on the mitochondria related cutis laxa disorders will be given.

Dr. Thatjana Gardeitchik, MD (Nijmegen, the Netherlands) : Neurometabolic Defects in CL

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The underlying molecular defects in Cutis Laxa Sybdromes can also be roughly divided in two groups,

based on type of involved pathomechanism : defects in genes coding a « structural » ECM-component or in genes in which mutations can inborn errors of metabolism (IEM) presenting with Cutis Laxa.

The exact way these divergent molecular lead to elastin abnormalities remain unclarified.

Prof. Dr. Uwe Kornak, MD (Göttingen, Germany): The Secretory Pathway, Glycosylation, and Cutis Laxa

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Secreted proteins and membrane proteins have to pass through the secretory pathway, which is not only responsible for the transport to the correct cellular compartment, but also for the maturation and modification of these proteins. A central part of the secretory pathway is the Golgi compartment, which consists of several « pancake-like » membrane sacks (cisternae).

One important modification is glycosylation, which has been found altered in a whole group of Cutis Laxa disorders, that are also named congenital disorders of glycosylation (CDG).

Mrs Aude Beyens, MD (Ghent, Belgium): Structural defects of Connective Tissue Proteins and CL

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Elastic fiber assembly, or elastogenesis, is a complex process that is precisely regulated in a spatiotemporal manner and depends on proper growth factor signaling and mechanosensing.

 

The underlying molecular defect in cutis laxa syndromes affect the synthesis and/or association associated extracellular matrix proteins.

Prof. Gerhard Sengle (Köln, Germany): Matrix Biology – What can we learn from animal modelling ?

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Understanding how the fine tune mechanisms of elastic fibers formation is perturbed in the different types of Cutis Laxa is crucial to design molecular therapies in preclinical trials using animal models.

Other Events in 2022

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1st February: Pharmaceuticals Seminar

10th April : Our Little Stars” stall and entertainment

6th July : Pierre Fabre Contest, Marie-Claude Boiteux was a member of the Grand Jury that awarded the Price of the Best Patient-Centered project presented by the international chapters of the Pierre Fabre Group.

30th September and  1st October :  CHAM 2022 gathered together all stakeholders of tomorrow’s health : Politicians, Health Professionals, Institutional bodies, Pharma Industries and Patient Organisations.