Achievements in 2014
Our 25th year
The Society’s 25th year has been a very busy one. Although we are very small, we are active on many fronts and we thought it would be useful to bring together in one place some of our main achievements in 2014.
Information and family support
Provided, information, a listening ear, often a home visit and always warm support to some 20 people going through the uncertainty and pain of a diagnosis of A-T.
Awarded £18,000 worth of support grants to support people living with A-T with breaks, wheelchairs, computers, equipment for and access to activities, transport, counselling and more.
Undertook 45 advocacy support cases to help people living with A-T access the services, allowances and health, social and educational care that they need - that's almost one family helped each week.
Organised a very successful Family Weekend attended by 50 families living with A-T and featuring information sessions on sporting activities for disabled people, A-T research and talking to children about A-T, as well as an opportunity to socialise and share experiences.
Organised a highly successful Activity Break for adults with A-T giving 16 adults the opportunity to meet and socialise with peers, gain new skills and confidence from participating in a range activities at an outdoors centre and attend the theatre.
Improving health care for people with A-T
Coordinated, edited, produced and distributed the world’s first clinical guidance document on the multi-disciplinary treatment of A-T in children. This document sets out a framework for clinical care, therapy and diet which when implemented could lead to significant improvements in health and quality and length of life.
Provided practical and financial support to attend one of the two national A-T clinics for 65 individuals with A-T and their families and carers. We also ensured that a staff-member or volunteer always attended to talk to people and deal with issues that arise.
Organised and chaired a joint meeting of the two clinics to improve the joint service, strengthen communications and take forward joint initiatives.
A-T research projects in the UK
In 2014 we continued to make good progress on our plan to increase the amount of active A-T research in the UK. More specifically, we significantly advanced our project to create a hub of research interest in A-T in Cambridge, where we funded and/ or otherwise supported three separate projects during the year. The partnership working between Prof Jackson and Dr Nik-Zainal is particularly encouraging and the availability of induced pluripotent stem cells from people with A-T and other related condtions from 2015 should enable us to encourage the development of new projects and partnerships.
Gave a year’s extension to our funding to a ground-breaking project carried out by Josep Forment under the supervision of Prof Steve Jackson at the Gurdon Institute, Cambridge, looking at synthetic rescue as a potential treatment for A-T and other conditions caused by defective DNA-repair genes, including breast cancer.
Worked in partnership with Dr Serena Nik-Zainal at the Sanger Institute, Cambridge to provide samples from people with A-T and other DNA-repair disorders for genome-sequencing and to create lines of iPSCs (induced pluripotent stem cells) which will be available for further research.
Provided funding to Dr Gemma Cummins at the University of Cambridge for her research into the cognitive and psychological impact of A-T on adults with A-T.
Continued to provide non-financial support to the CATNAP imaging project in Nottingham for which we managed to secure funding from the A-T Children's Project and Action for A-T in 2013. This included help with devising and carrying out a patient survey and ensuring ongoing communications with potential participants.
Organised and attended a pilot filming session with Dr William Whitehouse at the Nottingham A-T centre as part of the project to validate the A-T NEST as a tool for assessing and measuring the neurological symptoms of A-T.
International A-T research projects
Continued funding the project by Prof Ignacio Molina at the University of Granada to test the effectiveness of a gene therapy vector and minigene in rescuing ATM-deficient cells both in the laboratory and in an animal model. This funding is jointly provided with Action for A-T and Sparks.
Agreed to fund a project by Prof Luciana Chessa at the University La Sapienza, Rome,and Prof Mauro Magnani at the University of Urbino seeking to understand why steroids have a positive effect on the neurological symptoms of A-T and to test the hypothesis that this is because the drugs enable the production of a shortened but functional ATM protein. This funding is jointly provided with Action for A-T and Sparks.
Began to fund a project by Prof Claudio Pignata at the University of Naples to seek to understand how the lysosomal pathway is affected by the loss of ATM and whether it might be this function that is restored by steroid treatment. This funding is jointly provided with Action for A-T and Sparks.
Made significant advances in the project to establish an International A-T patient registry. We established and hosted the first meeting of a steering committee in June, submitted a joint application for European Horizon 2020 funding in October and in November secured broad consensus at the Nijmegen conference on a concrete plan to develop a broader A-T registry based on the database of the European Society for Imunodeficiencies (ESID).
Actively engaged with and supported the project to establish a phase 3 international clinical trial of Erydex with the aim of ensuring that a trial does take place and that the UK is part of this. This includes being a member of the project’s Advisory Board, playing an active role in a joint application for European funding from the Horizon 2020 programme, ensuring that the trials organisers were invited to both Family Weekend and Nijmegen Clinical Research Conference and ensuring active communications with people living with A-T about progress.
Approached the pharmaceutical company Biogen with a proposal to establish a small study of Fampyra in adults with A-T. After several discussions the company decided that they were not willing to support such a study for the present time.
Sponsored and supported the organisers of the A-T Clinical Research Conference 2014 in Nimegen, which we had commissioned in 2013 to follow on from the 2012 conference in Cambridge. The conference, which had a strong clinical focus, was felt to have been very valuable by participants. Our chief executive William Davis chaired the final morning of the conference and is now in negotiation with clinicians in a number of other countries to host the next event in 2016.
In partnership with the A-T Children's Project circulated 4 editions of the A-T Clinical Research Bulletin with news of events, funding calls and similar to over 100 clinicians and researchers. We also significantly increased the circulation list at the Nijmegen conference.