Ataxia Foundation Ireland are getting more involved in research, attending research conferences and contributing to research. In February 2022 we particapted in Ulysses Neuroscience Rare Disease Day conference in Trinity college. Our chairman John Kelleher talked about life with Ataxia. In February 2023 Dr. Petya from TUH gave a very detailed presentation on Ataxias this was followed by Ken Caulfield talking about living with and ataxia.
We are working with Dr. Mary Kearney to bring clinical trials to Ireland in conjunction with FARA Ireland.
A common question we are often asked is about voice banking. Speak unique
https://www.speakunique.co.uk/about-us/
Speech can deteriorate and become very unclear for people with degenerative conditions meaning that they will need a speech generating device. When people lose their voice, they often lose part of their identity. Speak unique makes it easier for people to bank their voice. The client can choose from a variety of stories on the website and read for approx. 1-2 hours (this doesn’t have to be completed all in one sitting). These stories include all the speech sounds so it will be able to generate any sentence that the client wants to say once they start using a speech device. The client will be able to hear samples of their voice and if the client is happy with their synthetic voice, it is only then Speak unique request payment. It is great to hear that you provide funding for iPad and speech app. For someone who has their voice banked, it will mean that when they make a sentence using the speech app that their voice will sound like them and will be easily recognisable to family and friends. If someone didn’t have the opportunity to bank their voice they will have to use a generic voice that doesn’t sound like them.
AFI support people with all types of ataxia below are some useful links.
Update on the approval of "OMAV" from Prof Sinead Murphy, Ataxia Clinic, Tallaght University Hospital.
On 28 February 2023, the US Food & Drugs Administration approved Reata Pharmaceuticals 'SKYCLARYS' (Omaveloxolone) for the treatment of adults and adolescents aged 16 years and older with Friedreich's Ataxia (FA). The clinical trial using SKYCLARYS showed:
1) that after 11 months on SKYCLARYS, individuals on SKYCLARYS compared to those who received a placebo (sugar coated pill with no medicine in it) had an improvement in neurological symptoms
2) After the above 11 months, participants were given omav for 3 years in what is called an open-label extension study; Results showed that taking 'SKYCLARYS' showed greater than 50% slowing of progressive compared to closely matched individuals in the FA natural history study (which is similar to EFACTS research in Europe which is available to those with FA in Ireland at Tallaght University Hospital)
3) SKYCLARYS was well tolerated and was safe to take during the 11 months of the clinical trial and the open-label extension study.
SKYCLARYS will only be available through specialist pharmacies in the USA and will not be available to those outside the USA at this time. Reata pharmaceuticals have lodged an application to have this drug approved in Europe by the European Medicines Agency (EMA). No result from this process is expected until 2024.
The results of a study on LIving with Ataxias are now available and Dr Mary would also,like to use this opportunity to thank you again for your participation in this important work and tell you the important findings from this work
A Note from Dr. Kearney
I have received my login and becoming familiar with the EFACTS programme. Even though I have only recently become a research fellow at Tallaght University Hospital (TUH), I am quite familiar with the EFACTS programme which was set up in 2011/12 through personal experience. I was secretary of the European patient group Euro-ataxia just after the turn of the century.
As you will know, approximately 20 Irish people who have Friedreich’s Ataxia (FA) were enrolled, initially, in 2012 in EFACTS centre in University College London (UCL) where Dr P Guinti and Dr Michael Parkinson take the lead. They travelled to London on one occasion and the Neurology team at UCL subsequently came to Tallaght, Dublin until 2006.
Many of these patients have now approached me and want to have their EFACTS details transferred to Dublin. They have given me written consent and Prof Sinead Murphy & Prof Richard Walsh, Tallaght hospital are happy to have these people with FA included in their EFACTS programme.
How can these people have their records transferred to the Dublin site? Already, some of these people have given written consent to me for this transfer, who would I send these forms to? These people are not prepared to travel to London at this time for many reasons including expense and COVID virus and given that they have not been seen for over 5 years, it seems unlikely that the team from UCL will travel to Tallaght, Dublin.
I look forward to hearing from you as we in TUH are keen to facilitate the needs of Irish people.
Sincerely
Mary Kearney Research Fellow at Tallaght University Hospital,
Tallaght, Dublin 24, D24 NR0A.
Registered Charity Number 20001605 Revenue Charity No. CHY 982
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