by Andy Stevenson
When we launched Reverse Rett 10 years ago our name was Rett Syndrome Research Trust UK or RSRTUK for short. Hardly anyone could remember it and almost always got it wrong. Banking cheques was a challenge, one that sticks in my mind was addressed to ‘Rita’s Rett Charity.’
Reverse Rett are now funding the world’s first Centre for Personalised Medicine in Rett Syndrome at King’s College Hospital in London or ‘CPMRS’ as it’s officially titled.
I’ve come to the conclusion, after being asked what it stands for numerous times, that maybe many people don’t actually know what it means and more importantly don’t fully understand what the Centre actually does.
We are currently in the middle of a fundraising campaign centred around the charity’s 10th birthday. All the money raised will go directly to the CPMRS (Centre for Personalised Medicine in Rett Syndrome) so it seems like a good time to give my personal understanding of how the new centre will benefit our children and adults with Rett Syndrome.
The new centre is going to help improve the lives of people struggling badly with the symptoms of Rett Syndrome. For too long we have lost patients to this condition because of a fundamental lack of understanding about Rett.
Whilst there have been some doctors treating symptoms, their efforts haven’t been formalised into ‘clinical research’ and results have not been shared to help patients on a wider scale.
Over the past 20 years, I have been to what feels like hundreds of appointments with a variety of different health professionals from different specialities.
Often, patients with Rett are treated for one individual symptom at a time by one doctor and prescribed medications without any discussion with the other doctors involved in their care. No one is looking at the bigger picture, how these drugs might interact with each other or cause another symptom to get worse.
CPMRS takes a different approach; their focus is on giving ‘personalised care’ which means looking at the patient as a whole. All the patient’s medications are reviewed ‘under one roof’ and cross checked. The team communicate directly with local teams to manage the overall health of a patient without the family having to be the go-between.
Although CPMRS has first focused on assessment and treatment of high risk patients, they do monitor less complex patients nationally, through a digital program called HealthTracker, which has been developed specifically for patients with Rett Syndrome with funding from Reverse Rett into what we now call the REST questionnaire.
Using REST in this way helps the team quickly identify and high-risk patients and flag up even subtle changes in symptoms that can be looked at early to help make sure the patient stays well.
CPMRS team were the first UK group to run a clinical trial for Rett which started in 2017. Two more trials aimed at treating symptoms of Rett Syndrome are due to start at CPMRS in the next 4-6 weeks.
Just a few years ago we had a conversation with a pharmaceutical company who told us there was no chance of holding Rett clinical trials in the UK as there were no UK ‘treating clinicians’ able, or in a position to deliver them. Thankfully, that has changed dramatically since, with sites for the two upcoming trials dotted around the UK and CPMRS leading the way.
But CPMRS are not only looking after patients and running clinical trials.
Managing so many patients with Rett of all ages, both digitally and in person with a focus on clinical research, enables the team to find and publish information how to address symptoms with existing medications.
Monitoring more patients enables them to more clearly show patterns which show that particular symptoms are changing or improving which is really important for clinical trials.
Most importantly, what we need to help people with Rett today is for findings from CPMRS to be published as soon as humanly possible so that the learning that comes from this work can benefit the wider Rett population. As we wait impatiently for a cure to end this disease we have to find ways to keep the people we care about with Rett healthy and give them a better quality of life.
CPMRS are doing that now.
This month Reverse Rett is 10 years old. Science has progressed rapidly in that time but not quickly enough for parents.
We have committed £1M to fund the CPMRS over the next three years, a large commitment for a charity the size of Reverse Rett. All the money raised from our £10 for 10 years campaign will go directly to the centre. Please support us by donating between £2 and £10 and/or by sharing on social media.