Website and Blog for the Sam McMahon Trust

The Repligen Corporation announced today that it has lodged an application with the Food and Drug Administration (FDA) for a Phase 1 study of RG2833, a selective histone deacetylase 3 (HDAC-3) inhibitor. Pending FDA approval this will be this first step in the clinical development of RG2833 as a potential treatment for FA.

Repligen state that ‘preclinical studies in animal models and patients’ cells have shown that RG2833 crosses the blood brain barrier, activates the defective frataxin gene and increases the production of frataxin.’

To read the full press release you can go the FARA website here and go to News on the right hand side of the page.

Less than 3 weeks to go to the Andrew Rudd cookery demonstration fundraiser in St. Helen’s Radisson Hotel, Stillorgan, Dublin. Tickets cost 25 euro – everyone attending receives a goody bag and free entry into the raffle on the night with some great prizes including a nights stay at The Ritz and dinner in Gordon Ramsay restaurant for two. Tickets can be bought here.

The 2010 Flora Womens Mini Marathon takes palce on Bank Holiday Monday on June 7th.  The biggest all women’s event in the world, the event continues to grow year by year. Over the past number of days a number of people have expressed an interest in raising money for the Sam McMahon Trust. If you wish to obtain a sponsorship form then click here. Good luck with your training and thanks!

Another date has been added to the ‘Ride Ataxia’ calander for 2010. The Philadelphia event will take place on Sunday October 10th. Further details will be made available in the coming weeks. At the Symposium last November there were hopes that the 2010 Symposium would take place at the same weekend. Nothing has been confirmed yet but fingers crossed. Those of us who travel great distances to attend the Symposium might just get the chance to be part of the great Ride Ataxia event!!

Congratulations to all of those who were involved in the Ride Ataxia Tampa Bay on April 13th. With 75 riders and over $30,000 raised, the event was a great success. Kyle Bryant, the man behind Ride Ataxia was there to participate and inspire. Thanks Kyle! Check out Marc Dahl’s short film of the event here.

We wish we could be part of the Ride Ataxia events that are taking place across America this year, particularly the ‘Race Across America’ event. The Ride Ataxia Tampa Bay takes place on April 13th and the North California Ride will happen on May 15th and 16th.  With all of the miles between us all that we can do is to keep you up to date on the news and  encourage you to follow the team’s progress here. Of course you can always donate online on the Ride Ataxia site….

For more information about the ‘Race Across America’ and the four members of the FARA team click here.

In 1997 a group of parents who have children with Friedreich’s Ataxia began to email each other to share experiences, ideas and information. Since then the group has grown and stretched across continents and time zones. All parents with concerns, worries and insights into FA. The group allows parents the chance to ‘think out loud’, to receive advice and help, even though physically they are miles apart.

The FAPG website has been revamped and developed. It offers parents a new forum to share their experiences and knowledge. Information about FA, details of forthcoming fundraising events and photos of our children and families are included. One you register with FAPG you can include other information and photos. Click here to see the new site.

The Friedreich’s Ataxia Society of Ireland is hosting a Parents’ Information Meeting at the Stillorgan Park Hotel on Friday April 16th from 4.00 to 6.oo pm. There will be presentations by Dr David Webb, Debby Lambert (Genetic Counsellor) and Dr Alison Stevenson from Ataxia UK.

On Saturday 17th the society hosts its annual AGM at the same location from 12.00 to 5.oopm. For more information and contact details, click here.

Over the past number of months Sam’s mum Caroline has been working with the Special Education Support Service (SESS). Their role is to enhance the quality of teaching and learning in relation to special educational provision. The SESS works under the Teacher Education Section of the Department of Education and Science.

Some time ago the SESS published ‘Signposts’, in order to outline how differing categories of special educational need can affect teaching and learning. It also offers tips for teaching, along with additional resources and references. It is a well organised and informative guide for all involved in education.  Until now there was nothing about Friedreich’s Ataxia but all that has changed. Thanks to the vision of the SESS and Caroline’s willingness to put together the necessary information.

Feel free to download the guide here. A copy will be made available to all of the primary and secondary schools in Ireland. With understanding there is no reason why children and young people with FA can’t succeed in school and it is hoped that this guide will help to broaden understanding and further raise awareness.

Today, March 18th, Billy Tauzin, President and CEO of  Pharmeceutical Research and Manufacturers of America (PhRMA) honoured Ron and Raychel Bartek for their dedicated work in raising awareness about Friedreich’s Ataxia (FA).

The Barteks are co-founders of the Friedreich’s Ataxia Research Alliance (FARA). FARA works to find treatments and a cure for FA. But Raychel and Ron are not just advocates, they are the parents of Keith, who sadly died recently at the age of 24. Raychel and Ron have continued to work tirelessly for FARA. Their dedication to the fight to find a cure for FA is an inspiration to those who have been diagnosed with the condition and their families and friends. Without them the 6 clinical trials and the various other therapeutic approaches would not be underway.

Those touched by FA appreciate you Ron and Raychel. It’s great that the wider community has recognised your work too!