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07/06/2019

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

These weekly blogs always seem to start with, ‘this has been a busy week at Reverse Rett.’ Maybe there is no other kind of week here. Busy is good though, busy means things are happening for people with Rett Syndrome and that is the whole point of the work we do at this organisation.

Last week we received notice that the next UK clinical trial was opening for recruitment which meant hustling to prepare to announce this in a co-ordinated manner with UK family support organisation, Rett UK.

Reverse Rett has been contracted by GW Pharmaceuticals who are the sponsors of the GWP-42003-P clinical trial, to recruit patients for the three trial sites and to organise logistical arrangements for individual families attending screening and study visits.

The way we recruit patients for clinical trials at Reverse Rett, is by, in the first instance, pulling patients in the required age group from the UK Patient Registry at Reverse Rett.

Prior to the trial being announced, we were able to form a list of patients who had expressed interest in an upcoming trial for patients in their child’s age group, who also met other basic criteria such as being MECP2 mutation positive.

Once the announcement about the trial went out on Tuesday this week, we received very many enquiries from families by email, facebook messenger, phone, what’s app, facebook post responses, re the trial and more detailed questions about eligibility.

When this happens, the first thing we do for unregistered patients, is to direct those families to register on the UK Rett Syndrome Patient Registry. Due to GDPR legislation and ethics regulations, we cannot contact families directly about clinical trial/research opportunities unless they are registered. Here is an article about accessing UK trials which we wrote earlier this week.

Much work has also been done this week to edit the Rett Syndrome Health Checklist which has been developed by the UK Rett Disorders Alliance and is due to be published on June 25th 2019. Becky Jenner, CEO of Rett UK and I have been working collaborative to collate and edit the checklist. The Checklist has been designed by Wesley Havill, who is our Patient Registry Co-ordinator at Reverse Rett, but he has a dual role working on all our in-house design. There have been a large number of edits made to the Health Checklist to ensure that all the contributors are satisfied with the final document which means Wesley is editing and re-editing, virtually every day at the moment.

A long conference call for the Board of Trustees of Reverse Rett on Wednesday evening was followed by a busy day on Thursday, with members of the Reverse Rett team from London in the office. Just before our meetings were about to start, we noticed one of the offices upstairs from us, being cleared of lots of office equipment and supplies which were all heading off to the tip. Very kindly, some of the staff involved in moving these things, allowed us to go and have a look if there was anything that would be useful to Reverse Rett in the offices which have been closed down. Happily, there was and it was handy to have the extra bodies here to carry down all the things we have been needing but haven’t purchased new, from five floors up.

Today the team meets again to develop plans for autumn fundraising leading into the New Year. We will be joined by Hazel, who works on Reverse Rett events and fundraising initiatives in North London and by Reverse Rett Chairman, John Sharpe, by Skype.

Speaking of autumn fundraising, planning for the 10th Reverse Rett London Gala is also on-going here. On June 9th  Reverse Rett turns NINE years old but the Gala will be our 10th. That’s because when we launched the organisation in 2010, we launched with the first Gala already planned for that November. (We did not know what we were in for!) We plan to make the 2019 gala a real celebration of the work of Reverse Rett; highlighting where we have come from and what’s been achieved since we started.

With a band, magician and comedian on the evening programme, we hope it will be a brilliant night for everyone. We have already sold half the tickets for this event, much earlier than we usually do, so if you do want to come, please get your tickets/ask us to reserve asap.

Despite it being such a hectic week this week, I have appreciated being able to speak to parents who have called the office wanting their children to take part in the GW trial. One parent in particular struck me with his desperation to access some kind of help for his 11 yr old daughter. After venting his frustration and listening to me explain some preliminary trial criteria and next steps in terms of recruitment, he asked if he could ask me a personal question. This is what it was:

‘I spoke to you years ago when my daughter was first diagnosed. Don’t you ever feel annoyed that nothing is happening in the research. All this time we’ve been living with this and watching our daughter deteriorate. You have a daughter too. Don’t you feel frustrated that nothing is happening?’

The answer to this is categorically, NO. There are a lot of annoying, frustrating and wearing things about working in this role for Reverse Rett, but a lack of progress is not one of them.

This week we have supported the launch of a second UK trial for an emerging treatment for Rett.

Later this year (projected October 2019) results of the first drug trial (Sarizotan) will be announced.

The AveXis gene therapy trial is due to start any day; we are waiting for an announcement from the company which we are expecting imminently.

On the clinical side, we have nearly completed the Rett Syndrome Health Checklist for UK patients with Rett which will provide families and clinicians with detailed information about all the symptoms of Rett Syndrome and recommended treatment pathways, written by clinicians who constitute a gathering of the best knowledge, experience and expertise of Rett Syndrome in the UK.

Reverse Rett continues to financially support the work of Professor Santosh and team at KCL who are working on clinical trials for Rett as well as outcome measures and biomarkers for the condition; a vital element not only of treating Rett Syndrome in individuals, but also a component of demonstrating that emerging treatments are effective and worthy of funding by regulatory bodies.

Annoyed? Yes. I have seen so many families I know personally lose their children in the last couple of years. Every day, I speak to families in desperate situations, who are pushing every day to find solutions to keep the person they love alive and well.

I want things to happen faster; always, always we are pushing, moving, driving aggressively to make change happen, but even with the time it is all taking, there can be no doubt that progress is being made.