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).

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.

12 different mutations have been identified

As of today, 12 different mutations have been identified leading to Cutis Laxa. That is why Cutis Laxa classification will soon be reviewed.

  • Elastine (ELN) (2 mutations) – ADCL
  • Fibuline5 (FBLN5) – ARCL1A
  • Fibuline4 (FBLN4) – ARCL1B
  • LTBP4 – ARCL1C
  • ATP6V0A2 – ARCL2A
  • PYCR1 – ARCL2B
  • ATP6V1E1 / ATP6V1A – ARCL2C
  • ALDH18A1 – ARCL3 (De Barsy Syndrom)
  • SCYL1BP1 (Géroderma Osteodysplastica)
  • ATP7A (Occipital Horn Syndrom)
  • RIN2 (MACS Syndrom)

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