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.

I AM 28, BUT MY SKIN LOOKS LIKE 65

L’illustré, swiss newspaper (in French)

2019.02.06

Watch the video : https://www.facebook.com/1081337022/posts/10215330750396949/

Read the article : http://www.cutislaxa.org/wp-content/uploads/2020/02/lillustre-2019.02.06.pdf

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).

Helplines for Rare Disorders worldwide

Helplines for rare disorders worldwide
Country Organisation      Helpline & other modes of contact
Canada Rare Disease Information and Resource Centre +385 12441393  –  info@rqmo.org
www.rqmo.org/rare-disease-information-and-resource-centre/
Croatia   * Croatian Help Line for Rare Diseases +385 12441393  –  rijetke.bolesti@gmail.com
www.rijetke-bolesti.hr/rare-diseases-croatia
Facebook group
Denmark * Rare Diseases Denmark +45 33140010  –  helpline@sjaeldnediagnoser.dk
sjaeldnediagnoser.dk/helpline/
France * Maladies Rares Info Services (MRIS) + 33 156538136  –  info-services@maladiesrares.org
www.maladiesraresinfo.org
Germany ACHSE Betroffenen- und Angehörigenberatung +49 3033007080  –  www.achse-online.de
Hungary * Lifebelt +36 617904533  –  mentoov@rirosz.hu  –  mentoov.rirosz.hu/
Ireland * National Rare Diseases Office (NRDO) +353 1800 24 03 65 or + 353 18545065
rare.diseases@mater.ie  –  www.hse.ie/eng/services
Italy * Università di Padova, Coordinating Centre for Rare Diseases, Veneto Region + 39 049 82 15 700  –  malattierare@pediatria.unipd.it
Italy * Telefono Verde Malattie Rare +39 800896949  – https://www.iss.it/?p=171
Italy * Centro di ascolto malattie rare +39 800 880101  –  http://www.regione.toscana.it/-/centro-di-ascolto-per-le-malattie-rare
Italy * Centro di ascolto per le malattie rare del Piemonte e della Valle d’Aosta +39346.1059486  +39339.5203554 –  segreteria@a-rare.it
Mexico AcceSalud accesalud@femexer.org
Norway Norwegian National Advisory Unit on Rare Disorders Oslo University Hospital +47 23 02 69 75  –  liegen@ous-hf.no
Helsenorge.no/Sjeldnediagnoser
Portugal * Linha Rara +351 300505700  –  info@rarissimas.pt
Romania * Romanian National Alliance for Rare Disease (NoRo Help Line) +40 260611214  –  office@apwromania.ro
Romania * Romanian Myasthenia Gravis Info Centre +40 744704399  –  asociatia.miastenia@gmail.com
Serbia * NORBS +381 800333103  –  office@norbs.rs  – www.norbs.rs/
Spain * SIO Feder +34 918221725  –  sio@enfermedades-raras.org
Switzerland * Infos Maladies Rares +41 848314372  –  contact@infomaladiesrares.ch
www.info-maladies-rares.ch/
Switzerland * Seltene Krankheiten +41 442663535  –  selten@kispi.uzh.ch  –  www.kispi.uzh.ch
USA GARD Genetic and Rare Diseases Information Center +1 8882052311
Wolrdwide ThinkGenetic https://www.thinkgenetic.com/

medical advice from Genetic counselors :  https://www.thinkgenetic.com/contact-counselor

“He is a real scamp”

12th January 2018 :

Article in Voralberg’ newspaper (Germany) about Mohammed after the video report.

Read the whole article at :

https://www.vn.at/lokal/vorarlberg/2019/01/11/er-ist-ein-richtiger-lausbub.vn

Mohammed’s new life in Germany

28 Décembre 2018 :

Mohammed’s new life in Germany (Mohammed is a Syrian refugee suffering from CL)

(broadcast in Arabic and English in some parts)

https://m.facebook.com/story.php?story_fbid=10217703840526118&id=1183293593

Chiara, RAI2 (Italian television), broadcast DettoFatto

16th November 2018 :

RAI2 (Italian television), broadcast DettoFatto, report on Chiara’s face reconstruction surgery.

See the report on

https://www.facebook.com/DettoFattoRai2/videos/181625632784663/

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).

« Marie-Claude Boiteux, a volunteer mother fighting for her daughter suffering from an orphan disorder »

Le Dauphiné Libéré 2018.02.07

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.