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Orphanet website Ireland entry point

Orphanet Ireland
Orphanet international services
  • An inventory and classification of rare diseases
  • An encyclopaedia
  • A directory of services: clinics, laboratories, research projects, registries, clinical trials, patient organisations
  • An inventory of orphan drugs
  • Guidelines, reports
  • A newsletter
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Welcome to the Orphanet Ireland national website! 

 

This page presents the news, events and documents of national significance.
  • To register your activity click on "Register online" on the left tab
  • To provide an article regarding your activity contact idoia.gomez-paramio@manchester.ac.uk
  • To access all information on rare diseases, orphan drugs and expert services visit the main Orphanet portal (www.orpha.net).

 

 

News in Ireland

 

 

 

IRDiRC delivers a successful and inspiring conference: a common goal emphasised

 

 

The first IRDiRC conference was held on April 16-17 2013 in the charming city of Dublin, Ireland. Thought leaders from all over the world captured the audience with stimulating, inspirational and highly informative talks on the past, present and future of rare disease research. IRDiRC was unanimously hailed as need of the time to advance the cause of rare disease research. IRDIRC promises to contribute in development of 200 therapies for rare disease and means to diagnose all of them by 2020. Rare disease stakeholders discussed the ways and means to help reach these goals. They provided examples of success stories as well as suggestions of the innovative ways in which stakeholders can come together to fulfill this goal.


This truly international conference was attended by more than 400 participants representing Europe, North America, Australia and Asia. It was recognised by one and all that expertise in rare disease, like the patients, are scattered across the globe. It is thus imperative for the global rare disease community to put their heads together to solve the great big jigsaw of rare disease, of which everyone holds a piece. This meeting boasted of attendance from policy makers, industry leaders, academicians as well as patient organisations from around the world. Representatives from regulatory bodies such as FDA, EMA, the Canadian and Australian regulatory agencies shared their expertise and pushed the need for more regulatory success for orphan drugs. Patient organisations such as Rare Voices Australia, Eurordis and Genetic Alliance US, gave an overview of the current need of patients and how coming together with a common agenda is urgent, but also achievable. Industry partners emphatically expressed the need to work with academicians, patient organisations and regulatory bodies to significantly increase the number and quality of drugs that is accessible to all. The buzz word was collaboration, collaboration, collaboration.* Read more

 

 

 

 

 

European AKU consortium launches first clinical study this spring 

 

 


This year the AKU Society will embark on international clinical trials for the drug nitisinone. Nitisinone is currently licensed for another rare disease but it has not yet been approved for treating patients with AKU. Previous findings have shown that nitisinone could be effective: clinical research in the US showed that levels of homogentisic acid (HGA), the molecule that causes all the damage in AKU, were reduced by up to 95%.

The first trial will take place at two centres: the Royal University Liverpool Hospital, UK, and Piestany, Slovakia. It will start in Spring and last four weeks. Patients will only need to visit their trial centre twice. Patients will be randomly divided into five groups that will each receive different doses of nitisinone. This is in order to determine the best dose of nitisinone in AKU patients to be used in a second, longer trial in late 2013. All travel costs will be covered for patients within Europe, with accommodation being provided at the trial centres.

If you are would like more information, please contact our Clinical Trials Coordinator, Hana Ayoob, on +44(0)1223 322897 or by email at hana@akusociety.org" target="_blank">hana@akusociety.org.

 

 

News on Orphanet

 

 

New emergency guidelines in English


Central Diabetes Insipidus

https://www.orpha.net/data/patho/Pro/en/Emergency_CentralDiabetesInsipidus-enPro17999.pdf

 

Duchenne muscular dystrophy

https://www.orpha.net/data/patho/Pro/en/Emergency_DuchenneMuscularDystrophy-enPro13913.pdf

 

Steinert myotonic dystrophy

https://www.orpha.net/data/patho/Pro/en/Emergency_SteinertMyotonicDystrophy-enPro77.pdf

 

Type IV Ehlers-Danlos Syndrome

https://www.orpha.net/data/patho/Pro/en/Emergency_Ehlers-DanlosTypeIV-enPro4042.pdf

 

Malignant hyperthermia

https://www.orpha.net/data/patho/Pro/en/Emergency_MalignantHyperthermia-enPro649.pdf

 

 

 

 

Orphanet has just released its mobile application!

 

 


Available on iPhone and compatible with iPad, the first version of the Orphanet application gives access to main services of Orphanet (encyclopaedia of rare diseases, expert centres and emergency guidelines) in English and French. A second version will soon be available in more languages (German, Italian, Spanish and Portuguese). The Orphanet application is freely downloadable on the Apple store. Please do not hesitate to contact us for any feedback on the application supportmobile.orphanet@inserm.fr" target="_blank">(supportmobile.orphanet@inserm.fr). *
 

 

 

*Source: OrphaNews Europe

 

 

 

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Last update: 30/05/13




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