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22/03/2019

Reverse Rett Weekly Blog

We produce a weekly blog to share what we’ve been up to, information from the rare disease community and pieces from families living with Rett Syndrome.

We want to bring the UK Rett community stories of our activities, things we’ve found interesting, and updates from research as well as the real life thoughts and experiences of families living with Rett Syndrome.

We’ll be posting the blog every Friday. If you’d like to share your own story on our blog, please contact rachael@reverserett.org.uk

Much of this week at Reverse Rett has been spent on editing the soon to be published Rett Syndrome Health Checklist; a project which has been developed over the last couple of years by the UK Rett Disorders Alliance and the Rett Disorders Working Group.

I have been working closely on this with Becky Jenner, CEO of Rett UK as the two of us agreed some time ago to take responsibility for editing the work. Wesley has also been working on the design of the checklist and has been patiently incorporating many amends into the document, as they have come in over the last couple of weeks.

Planning for a second UK clinical trial is also underway, which both organisations are involved with. We are unable to share further information about this at the moment but encourage families who are interested in participating in upcoming clinical trials to register their family member with Rett Syndrome on the UK Rett Syndrome Patient Registry here.

I’ve also been working on projects focused on access to emerging treatments, so that as and when clinical trial results become available, we are ready to help industry partners drive treatments through the regulatory processes. Reverse Rett Chairman, John Sharpe and I had a conference call yesterday with the Campaigns and Policy Officer of another national rare disease charity who have recently been successfully involved in ensuring approval of a treatment for children and young people with their particular disease. This was a connection made through the recent Findacure meeting held on February 27th.

Moving forward, our smaller rare disease groups will be working together to ensure that wherever possible we share knowledge, information and experience gained from going through these processes for a variety of different treatments and disease groups.

Speaking of the Findacure Conference, if you haven’t heard it yet, you can listen to the presentation which Becky and I made at the meeting here.

Beth and I have been working on finalizing the agenda for the upcoming Discovery Day which is taking place on May 11th 2019 at the Livability national office in London. This event is free to attend and we have some excellent workshops lined up including both gene therapy and clinical research updates from world renowned Gene Therapy Scientist, Dr Stuart Cobb of the University of Edinburgh and Professor Santosh of King’s College London who is Primary Investigator on the UK arm of the Sarizotan trial. If you have not booked your place yet, the time is now as there are only a handful of spaces left.

Beth, Charlie Talbot and our Reverse Rett #London10 Gala committee are working hard to make this year’s gala the best yet. The date is set for 15th November 2019 and the gala is being held once again at Church House, Westminster. If you or anyone you know would like to get involved with the gala committee or discuss sponsorship for the event, please email beth@reverserett.org.uk

We took delivery of these wristbands this week too. We’re selling them for £4.50 plus p&p-all proceeds to our research projects. They are adjustable and fit little people. I love mine and am wearing it with pride! Order yours here.

Last but not least, we made our quarterly research transfer to the international research program at the Rett Syndrome Research Trust (RSRT) this week too. This quarter’s payment was £100,000 to the labs of Dr Stuart Cobb and Professor Adrian Bird at the University of Edinburgh, plus £15,508 going to MECP2 Duplication projects in the USA. RSRT made this short animation recently to share information about the human gene therapy trial, sponsored by AveXis, which is expected to start this year. Previous work by the RSRT Gene Therapy Consortium financially supported by Reverse Rett via RSRT has generated the data which led to this trial.

We don’t know exactly when the trial will begin or how successful it will be. But it’s happening. In the meantime, we live in hope.

More next week.
Rachael Stevenson, Co-Founder, Executive Director, Reverse Rett