Reverse Rett Matters: October Edition by Reverse_Rett

October 2023

CONTENTS Intro Patient #2 dosed in Taysha trial Taysha Community Letter When we will hear news from Reverse Rett Beehive Lofts Jersey St Ancoats Manchester M4 6JG

Neurogene’s US children’s trial Next milestones to look for Gauging the temperature: UK interest in gene therapy trials October Awareness Month: What we need you to do

07596 139 466

CIPP Rett Centre Survey: You

info@reverserett.org.uk

asked, we answered

www.reverserett.org.uk TRUSTEES Chair: John H Sharpe Vice-Chair: Helen Simmonds Rita Ross Ortensia Martinotti Catherine McKinney Kate McMaster Joanna Snyder Dr Ruksana Ahmed Mike Jones Dr Jocelyn LeBlanc

Back to school The Art of Fundraising by Andy Stevenson The Fire & Ice Maidens: Mission Completed CIPP Rett Centre Summer Appeal The Big Give Christmas Challenge The Reverse Rett GameChangers Meet the Sea to Summit Team

STAFF TEAM CEO: Rachael Stevenson Operations Manager: Catherine Sim Clinical Trial Lead/Supporter Care: Andy Stevenson Design/Marketing: Wesley Havill Patient Registry Co-ordinator: Ewelina Wasowska Fundraising special events: Hazel Beiny

Reverse Rett Matters Designer: Wesley Havill Edited by: Rachael Stevenson

Reverse Rett Bitesize Sessions

The views expressed herein do not necessarily represent the views of the editor or of Reverse Rett Board of Trustees. Parts of this publication may be reproduced with permission, please email rachael@reverserett.org.uk

Dear Friends,

It’s almost time for our annual pre-Christmas Party, otherwise known as the Big Give Christmas Challenge. This is your once in a year chance to DOUBLE any donation you make to Reverse Rett through the Big Give website. It begins on Tuesday 28th November at Midday so all of you who have been saving up your pennies since the last one be ready to make twice the impact at the end of November.

I hope you’ve all had a wonderful summer and made it through the school holidays unscathed. Almost time for half term now. Despite it being a busy time for families we’ve had some amazing fundraisers taking on challenges and holding events. Personally, I was privileged to be part of the Fire and Ice Maidens team where we trekked through Iceland at the end of August (though it felt like December). The camaraderie between the team was exceptional though the challenge was tougher than any of us expected, we pulled through in the end and are bonded for life by our adventure.

The positive news still keeps coming in relation to gene therapy for Rett syndrome and you can catch up with the latest announcements in this issue. We began our latest Bitesize sessions recently which are focused on this issue, emerging gene therapies. We had a fantastic turn out for the first one with over 100 people signing up. We will be holding one a month until June next year and will welcome some really interesting guest presenters along the way. If you can’t make it live then you can still receive a recording of the session afterwards, but you must make sure you register with your email through Eventbrite.

As we head into Autumn preparations are underway for our busiest time of the year. As most of you will know October is Rett Syndrome Awareness Month and it’s now in full swing. We have been asking our supporters to help us find people with Rett syndrome who may have gone under the radar or have not yet been diagnosed. We also have many families taking on challenges and holding events to raise awareness and money, there’s still time to do something this month to help us continue our work.

I look forward to seeing you there.

son Rachael Steven

All best wishes,

To that end It’s almost time for the London Gala and I’m delighted to say that we have a full house. We have held the event at the Royal College of Physicians before and it seems fitting that we’re returning this year as we move closer to clinical treatment for Rett syndrome which we all hope will make a significant difference to the people we love. This is our 14th Gala and we are looking forward to another fantastic evening and seeing friends old and new.

Rettt erse Ret Reverse Rac CEO,, Rev on, CEO enson, Stevens haell Stev Rachae

Patient #2 dosed in Taysha trial On 27th September 2023, Taysha Gene Therapies announced that a 2nd adult patient has been dosed with TSHA-102 in their gene therapy trial in Canada.

Did you know?

Here are the key takeaways from the press release the company issued:

The US based Rett Syndrome Research Trust supported by Reverse Rett, the Israeli Foundation for Rett Syndrome, Rett Syndrome Deutschland, OpéRett and more, funded the original academic work that led to the Taysha Gene Therapies program.

Taysha plan to share available clinical data (how the patients are doing) from the first two adult patients who have received the gene therapy in mid November, once the Independent Data Monitoring Committee have reviewed.

This funding which has mostly come from families and communities of people with Rett syndrome, enabled the research to pass through the ‘valley of death’, which is the space between academic research and industry interest in developing the work into a commercial product.

The third adult patient is expected to be given the gene therapy in late 2023 which would potentially complete enrolment of the low-dose group. For clarity, the protocol as it stands says that the first three patients will receive a lower dose. All being well, the dose could be increased for subsequent patients.

Congratulations to Dr Steve Gray of UT Southwestern, now Chief Scientific Officer at Taysha Gene Therapies and to all the team at Taysha for all their ongoing work.

The first child will be dosed with TSHA-102 in the US paediatric clinical trial in the first quarter of 2024.

CLICK HERE FOR FULL PRESS RELEASE

Steve Gray,Chief Scientific Advisor

CLICK HERE FOR UPDATE RE PATIENT #1 FROM AUGUST 2023 4

Taysha Community Letter September 12th 2023 We are writing to share a series of updates that Taysha provided in a press release earlier today. Please find a summary of the updates below, as well as a list of answers to some questions you may have.

To date, the two dosed participants have been given the first dose level being assessed in the clinical trial

The second adult patient was dosed with the investigational gene therapy, TSHA-102, in the REVEAL Adult Study

The third participant will also receive the first dose level

Available clinical data from the first two adult patients dosed with TSHA-102 will be shared in an upcoming quarterly earnings call for investors in mid-November, following review of the data by the Independent Data Monitoring Committee (IDMC)

The study is currently being conducted at CHU Sainte-Justine, the Université de Montréalmother and Child University Hospital Centre in Montreal, Canada What is the REVEAL Pediatric Study? As announced in August 2023, the U.S. Food and Drug Administration (FDA) cleared an investigational new drug (IND) application for Taysha’s investigational gene therapy, TSHA-102, in female children with Rett syndrome

The third adult patient is expected to be dosed with TSHA-102 in the fourth quarter of 2023, which would potentially complete enrollment of the low-dose cohort in the REVEAL Adult Study Dosing of the first pediatric Rett syndrome patient with TSHA-102 in the REVEAL Pediatric Study in the United States (U.S.) is expected to take place in the first quarter of 2024

The REVEAL Pediatric Study will study TSHA-102 in female children 5-8 years old, with plans to expand to female children 3-8 years old in future parts of the study

What is the REVEAL Adult Study?

The REVEAL Pediatric Study is not yet open for enrollment

The REVEAL Adult Study is a Phase 1/2 open-label dose-escalation clinical trial designed to evaluate the potential safety, tolerability, and preliminary efficacy of a single administration of the investigational gene therapy, TSHA-102, in adult females 18 years and older with Rett syndrome

As soon as enrollment begins, Taysha will share a letter to the community with details about the clinical trial, including inclusion and exclusion criteria, study site locations, number of participants and other details about the protocol

The study is designed to evaluate two different dose levels to determine the optimal amount highest tolerable dose) of TSHA-102

Details will also be available on www.clinicaltrials.gov

What are Taysha’s plans for a clinical trial for females with Rett syndrome in the United Kingdom (UK)? Taysha submitted a clinical trial application to the UK Medicines and Healthcare products Regulatory Agency (MHRA) to study TSHA-102 in female children with Rett syndrome and expects to receive MHRA feedback in the second half of 2023 If you would like to connect with someone from the Taysha Patient Affairs team, please contact patientaffairs@tayshagtx.com. If your healthcare provider would like to connect with a member of our Taysha Medical Affairs team, please contact medinfo@tayshagtx.com. We would like to thank the entire Rett community and the Rett patient advocacy groups for your continued partnership. We would also like to acknowledge the individuals and families participating in the trial for contributing to this important research to better understand the potential of gene therapy for Rett syndrome.

Chelsea Karbocus, Patient Advocacy, Taysha Gene Therapies

We look forward to sharing more information as it is publicly available. Sincerely, The Taysha Patient Affairs Team

When we will hear news from Neurogene’s US children’s trial As Neurogene and Taysha Gene Therapies are two different companies with a different product, different ethos and operating in a different way, it is possible that Neurogene may not share every development along the clinical pathway with the community as Taysha Gene Therapies has.

Did you know? Through our longstanding partnership with RSRT, Reverse Rett has provided a significant level of funding for Professor Stuart Cobb, now the Chief Scientific Officer of Neurogene, whose work led to the Neurogene NGN 401 program.

This does not necessarily mean that the program is not progressing. If Serious Adverse Events occur, the company has a responsibility to share this information publicly.

The Cobb Lab alone has received over £1.4million from Reverse Rett over the last decade enabling this work to move from the laboratory bench to human clinical trials.

As and when we have updates from Neurogene, we will share with you. As a reminder: There are three US trial sites for the Neurogene gene therapy clinical trial of NGN 401

We are delighted for Stuart and send our congratulations to him, all his colleagues at the Cobb Lab at the University of Edinburgh and all the team at Neurogene.

Texas Children’s Hospital is currently enrolling Sites in Colorado and Boston are not yet recruiting The trial is for five female patients ages 4-10 in the first instance Patients outside the USA cannot enrol at this time Neurogene is working with regulators to add trial sites outside the USA To read the full protocol please scan here (QR code from last time)

Professor Stuart Cobb

To read the full protocol please click here 7

Next milestones to look for At Reverse Rett, we are here to help individuals with Rett syndrome, their families and caregivers, understand research and clinical trials progress and if, how and when this may affect their lives. In March this year, we shared an infographic of milestones to look for. All of those next milestones to look for have now been reached.

June / July 2023

Taysha Gene Therapies update re top line results from adult trial of TSHA-102

July / August 2023

Neurogene's US clinical trial for NGN 401 in children going up on clinicaltrials.gov website

June / August 2023

Taysha Gene Therapies update re proposed application to UK regulator for TSHA-102 in children Here are the next milestones to look for in the coming months:

US Taysha Gene Therapies Clinical trial for TSHA-102 going up on clinicaltrials.gov

MHRA (UK regulator) response to UK Clinical Trial Application for children

Progress in the US Neurogene trial of7 NGN-401 in children. 3

Gauging the temperature: UK interest in gene therapy trials We started this campaign in June of 2023, starting with the very youngest people, the under 3's. When we wrote to this group, of those who responded, many, many people wrote back to let us know their child didn't have a test result yet or hadn't been tested at all, They suspected their child had Rett syndrome and, or they had received a clinical but not a genetic diagnosis and so were unable to mark a positive mutation. We followed up with them in the subsequent weeks to update as their results came in. We then moved to the next group, 4-8. We took into consideration people who would be rising 4 within the next 12 months, again we had respondents who didn't have a test result or had not been tested. Although a test result isn’t required to enter a trial as a test would form part of the screening process, it is better to be clear in advance to save moving the process along in those who may not actually be eligible.

Although we are not currently aware of any plans for a UK gene therapy clinical trial in adults with Rett syndrome, we know that the parameters for clinical trials can change quickly. It is therefore important that we gauge interest amongst that group. It also enables us to demonstrate to stake holders that adults with Rett and their families want to access new treatments, whether that comes through a clinical trial or through delivery of treatments after approval.

We supported these parents with letters of support to their medical team to ask for a copy of their results. Once a positive test result was received, we help the family interpret those results. The next 2 categories we wrote to was the 9-12, 13-18, this group mostly had a positive test result but we sometimes needed to interpret these results. The final category we will be writing to in the near future are the adults.

Is your person with Rett syndrome on the Rett Registry? 9

October Awareness Month: What we need you to do We’re on a mission this October and we need your help! We’ve been working to identify the actual number of individuals with Rett Syndrome living in the UK through freedom of information requests to local authorities and other statutory bodies. But due to antiquated systems and the lack of accurate data collection across UK government bodies, this is proving difficult.

RETT

E M O R D N SY

Why is this important? We want to register as many UK individuals with Rett syndrome as possible, so that, We can reach families/caregivers re clinical trial opportunities We can account for approximately 95% of UK patients prior to the regulatory processes and health technology assessments for emerging treatments We can identify concentrations of patients/locations for delivery of approved treatments

Can you help? 3. Could you ask your physio, OT, Speech Therapist, teacher, paediatrician, neurologist or any other specialist to share information about the Rett Registry UK directly with any other families or caregivers of individuals with Rett Syndrome that they know. If so, we can send leaflets out to you, email us here or call.

1. Do you know other families of children or adults with Rett Syndrome in your school, town, village or local authority? If so, please email us and tell us how many and whether they are under or over 18.

2. Can you share a Rett Registry UK leaflet with them directly? If so, we can send leaflets out to you, email us here or call.

4. Could you share information about the Rett Registry UK with your local local SEN Facebook/online groups, WhatsApp groups or similar?

If you can’t help us count and register other UK individuals with Rett, can you support us by fundraising? It may appear that we do a lot of fundraising here at Reverse Rett and we do, we have to because we have a lot of programs to sustain. We are the only UK charity funding the Rett Registry UK - a vital part of delivering UK clinical trials of new treatments and demonstrating need within the UK Rett community

Please help us this October Rett Syndrome Awareness Month in whatever way you can.

We are the only UK charity funding the CIPP Rett Centre based at King’s College Hospital - the only UK Rett provision seeing patients on a daily basis, with on average 6-7 patients a week. This centre is open and available to patients with Rett of all ages from anywhere in the UK.

Sponsored walk

We are the only UK charity who have funded Rett Syndrome research since 2007 with over £7 million delivered over the last 13 years.

Gather friends, pitch up at a park, take a picture, post about it and add the link to the donate page on our website https://donations.reverserett.org.uk

At Reverse Rett, our focus is on bringing life changing treatments for Rett Syndrome into the homes and lives of everyone affected in the UK. But we need your help to continue our work.

Come Dine with Me for Reverse Rett Can you cook a good meal? If so, why not hold a gathering for your friends. Charge for entry or do it TV style and ask them to donate the amount after based on their experience.

Every fundraiser, from those climbing Kilimanjaro to those holding a bake sale, from the lemonade stand to rowing the Atlantic, every one of you counts.

Sponsored soak This doesn’t sound too bad after the weather we’ve had this last week but there’s nothing like a cold plunge whether it’s a bucket over the head or some other form of cold exposure. Set a minimum amount, get the donations in first and then deliver. Video evidence essential.

Every one of you is moving us forward to a time when Rett Syndrome will not be the life sentence it is today.

Dress Down Day at work or school Come to work or school in your own clothes and ask everyone to donate anything they like but a minimum of £1.

We are so grateful for your ongoing help to continue our work. 11

CIPP Rett Centre Survey: We asked, you answered Thank you to those who took the time to complete our recent CIPP Rett Centre Survey, we asked, you answered. Of the survey responses received, 47% of patients referred to the centre were actioned by Reverse Rett, 26% were self-referrals, 9% by Rett UK and 18% by other professionals. As with all services across the NHS, the strain on the CIPP Rett Centre has been immense over the past 3 years. With so many services cancelled during pandemic lockdowns, specialities across the NHS have huge waiting lists. At the same time, operations and treatments have been delayed or cancelled, so have equipment assessments and reassessments and therapies were missed for extended periods of time. For individuals with Rett Syndrome, this typically means a deterioration in their symptoms, adding complexity to their day-to-day life and affecting their overall prognosis. Whilst our usual speciality appointments such as Neurology, Gastro-enterology, Respiratory and many more have been delayed, the demand on the CIPP Rett Centre has grown with families and caregivers able to make direct contact with the team. This has meant that the CIPP Rett Centre has to triage requests for support and respond first where the clinical need is acute. A bit like in A&E, this can sometimes mean that families and caregivers perceive that others are being seen quicker than them.

At Reverse Rett, we provide 100% of the core funding for the CIPP Rett Centre. We are always available to help families and caregivers by chasing referrals as needed. PPle Please contact

catherine@reverserett.org.uk if you have any questions

CIPP Rett intake process Initial contact from the CIPP Rett Centre is typically sent in the form of a questionnaire. This is how the centre triages the patients according to clinical need. If you have been referred to the CIPP Rett Centre but you have not heard anything back, please check your junk mail. Sometimes this is where the email goes to. Whilst it can be exhausting filling in questionnaires in an already overwhelmed world, without your responses about your person’s symptoms, the Centre cannot move your referral forwards. We did receive some feedback expressing concern with response times. Our survey showed that 50% of referrals to the CIPP Rett Centre were answered within 4 weeks. Whilst this is not typical of an NHS consultant referral, which can take significantly longer, it is an inconsistent response. We have listened and put in place a process to ensure the initial contact from the CIPP Rett Centre is made within a timely manner. If the referral has been made via Reverse Rett, we will follow up with you after two weeks to make sure you have been contacted.

Thank you for sharing your feedback with us. Here are a few examples of things you said:

of patients under the CIPP Rett Centre are under 18

“Extremely helpful. My daughter is monitored regularly. We couldn't be without them!“

“The staff were lovely. Whilst we had to do both our appointments by TEAMS they had obviously prepped very thoroughly to really understand my daughter.”

“It was like nothing else I’ve ever experienced in all the years of support A has needed. I couldn’t stop crying.“

“They are very attentive and listen to parents fears and answers to all questions, they give good advice and follow up to make sure everything is ok.”

of respondents felt that the CIPP Rett Centre responded to their initial referral in a timely manner

of respondents were satisfied that their issues were addressed by the CIPP Rett Centre

of respondents would recomment the CIPP Rett Centre to another family or caregiver

Prof Santosh, Dr Chishti and King’s Clinical Research Facility team

This school year, we asked parents to share photos of their awesome people with Rett Syndrome going back to school. Here are some of those photos.

#LIFE WITH RETT SYNDROME IS STILL LIFE

The Art of Fundraising By Andy Stevenson

Fundraising can be a daunting experience, whether you’re doing it for the first time or having been doing it for years, especially during a time when many people are struggling with the cost of living crisis.

Andy Tanya White had never fundraised before. Her daughter, Layla was only diagnosed in May this year and she was desperate to do something but wasn’t sure how. After facing her fears and choosing to jump out of a plane she set up a Just Giving and began telling her friends on Facebook and Instagram all about Rett Syndrome and the issues Layla and her family face. Despite setting an initial target of £1000 (which she raised in the first couple of hours) she is now closing in on £10,000 raised.

The last few years have been extremely challenging for charities especially small, rare disease ones like Reverse Rett. Although people are still not back to taking on challenges or holding events in the numbers they were pre pandemic the good news is people are donating more than ever, despite the times. Parents and their friends who are passionate about research should take heart from this so if that includes you it might be time to put yourself out there and raise some money in honour of the person you care about with Rett syndrome.

Donna Hunt has fundraised for Reverse Rett many times in the past in honour of her daughter, Danni. She decided to get a team together to walk part of the Norfolk Coastal Path. She and 18 family members and friends took on this challenge and raised £7398.44.

layla

Both of these incredible women had one thing in common. They both made sure they told their story in an open and honest way. Laying bare their own emotions and the struggles Layla and Danni face everyday. They showed honesty and made sure their friends learnt how devastating Rett Syndrome is. They also remained positive, explaining how close we are to a cure with gene therapy trials underway and the data from the first patient being so promising. Their family and friends were made to feel invested and I truly believe that they donated because they were inspired by Tanya and Donna and wanted to do what they can to help.

Whether you are brand new to fundraising or have been doing it for many years like I have there is an art to it. There are hundreds of fundraising pages filling up people’s news feeds so you have to make yours stand out in the crowd. It doesn’t matter what the challenge is, it can be big or small but the key is to make sure people know how important the cause is to you, people donate to people but they don’t know how much it means to you to have their support if you don’t tell them! Andy will be holding his first ‘Art of Fundraising’ workshop in January 2024, date TBC. In the meantime please feel free to Contact Andy@reverserett.org.uk with fundraising questions or just to chat about your ideas!

Catherine Sim is another example of successful fundraising though she did it in a different way. Catherine was part of the Fire & Ice Maidens team that took on a trek in Iceland recently. Catherine lives in Spain, is not prolific on social media and was worried about raising money.

Fundraisers old and new are welcome.

She decided to hold some events in her local area and put the money raised onto her Just Giving page. She held a BBQ, had a line dancing night at her local taverna and held two bag packs in local supermarkets. She smashed her £2000 target and raised almost £3000.

Scan to listen

Lake District Team

Donna Danni & Mum

a & Georgin Catherine

The Ice Maidens: Mission Completed Congratulations to the Fire & Ice Maidens for conquering their Icelandic Challenge in September. Their journey through the land of fire and ice has been nothing short of remarkable. Here are some of their final thoughts: Joanna Snyder Said, “It’s difficult to describe the out of this world, incredibly diverse Icelandic scenery and burtal, breath-taking (literally) weather.. 3 days of trekking & camping – tho’ a ferocious storm with winds gusting up to 150km/hr forced us (gratefully!) to take refuge in a cosy hut on the last night. Even Going to the bathroom was nervewracking - would I be blown away?!

The Ice Miadens Iceland: Completed

What got me and our determined Fire and Ice group through it all was our sense of absolute purpose, determination & camaraderie. Tears of pain, helping hands up steep, slippery slopes, interlocked arms thru’ raging, glacial rivers, smiles, laughter (and chocolate).

I landed in Manchester a few hours ago and I’ve just woke up on the sofa feeling worse than I did during the trek. My feet and calves are swollen, I’ve got ulcers on my tongue, my bones are creaking, my face and hands are weathered and I’m feeling emotionally battered.

An epic adventure - incredibly brave mothers & friends. The wonderful new friendships made and our chance to spread awareness about Rett Syndrome - we will never stop challenging ourselves until we conquer this devastating disease!”

I’ve watched people cry and break down and want to give up when it’s over 40 miles of valley after valley and ice cold rivers after ice cold river. Despite all of this, I have no regrets and would do it all over again - the people I’ve met on this challenge are some of the most genuine, bravest and resilient people I’ve ever had the privilege of meeting. YOU’RE ALL MAGIC!” - Wesley Havill

Jo Wesley

Did you know?

“I am so proud to call this bunch of beautiful humans, my friends. WE DID IT!!! All 74km of it, through rain, hail, high winds and a smattering of snow.

Reverse Rett receives no government funding. We are on the edge of transformative treatment for children, young people and adults with Rett Syndrome but we have to raise 100% of the money to continue our work to drive this forward into the lives and homes of people with Rett through challenges like these.

Up and down mountains (the descents are very painful , as it turns out) crossing ice fields, freezing rivers and lush green meadows. Ending with the most vivid double rainbow. I seem to have acquired hobbit feet, swollen ankles and toes, a generous portion of blisters and a toe nail ready to bite the dust, the bruise count is ongoing ......Yet...I am so glad that I got the opportunity to experience the wonders of Iceland. I have made friends for life, without whom, i have no doubt, i would have given up ! I have laughed and cried, hugged and been hugged (never under estimate the power of a 'cwtch').

“Each time we hit the top of a hill you could see another down followed by another hill. Each with its own different landscape. At times it was like walking on the moon with the dark highly mineralised rocks. Towards the mid point we walked across a snow field before getting to the Beacon which was the highest point of the day. By this point my knee was really painful, I strapped myself up before setting off again to go down to the next camp. The trail was very undulating even though we were starting to descend so more hills and downs. I slipped at the bottom of one and landed on my bum. I got myself up and then was being told take a step back, move back. Turns out I was stood on an ice shelf which could have given way and I was totally oblivious.

I left a little piece of my heart back in Iceland, and each one of these people took a little piece too.” - Emma, mum to Daisy-May

It was wonderful to be met at the airport by Georgia. She hasn’t stopped smiling at me since I’ve been home. I hope she’s proud of me as I would do anything for her.

Team Iceland

A big thank you to everyone who donated, and help me smash my target. It’s now time to rest and recuperate before contemplating another challenge.”

Emma

- Louise mum to Georgia

Louise

Georiga with Mum

“Arriving in a foreign country to undertake this challenge was exciting and overwhelming all at the same time. I’ve made new life long friends and I will forever be grateful for the love and support given at times of complete breakdown when I just didn’t think I could take one more step.” - Catherine, Mum to Georgina

e Louise & Catherin

“A special thank you to our dear friends, Bryndís María Leifsdóttir, Friðrik Friðriksson, Fridrick, Guðrún Sædal and Elisa, who made us so welcome in their home putting on a full Icelandic Christmas dinner for us on the night after we finished our trek.

Racahel & Amal

All of us felt so special and cared for after the challenges we had faced. Thank you for soothing our bodies and souls after the immense challenge we had been through. You are the most beautiful and kind family who showed that the love of our children with Rett surpasses culture, climate, geography, everything. It was so beautiful to be part of your lives just for one short slice of time.” - Rachael, Mum to Amber

ún Sædal iðrik, Fridrick, Guðr Louise, Bryndís, Fr Wesley Emma, Catherine & and Elisa, Rachael,

CIPP Rett Centre Summer Appeal Throughout the summer we launched a fundraising campaign to help Reverse Rett to continue funding the CIPP Rett Centre. For the past 4 years, the CIPP Rett Centre has been a lifeline for families throughout the UK. The Centre cares for children, young people and adults of all ages who have Rett Syndrome, it is 100% funded by Reverse Rett. We have been overwhelmed by your support which has shown just how important the centre is to our families. Including gift aid you have raised £37,997.20 in just three months.

37,997 raised

We had an incredible donation from one of our longstanding supporters in honour of her granddaughter which made all the difference to this campaign and ensured our continued funding of the centre. On behalf of Reverse Rett and Professor Santosh and his team, thank you all so much.

Did you know? The CIPP Rett Centre is funded 100% by Reverse Rett. Since September 2019 Reverse Rett has delivered over 1.5 million to this UK treatment and research centre which looks after some of the UK’s most complex patients with Rett, runs a national longitudinal study monitoring the health of patients of all ages up and down the UK, runs clinical trials and shares best practise in clinical management of people with Rett syndrome across the world. Thank you to everyone who supported the recent CIPP Rett Centre Appeal which will help to keep this vital service going at this critical time for everyone living with Rett.

Click here to donate 20

CHRISTMAS CHALLENGE 2023

TUESDAY 28TH NOVEMBER AT MIDDAY

This year’s Big Give Christmas Challenge will be our 14th in a row! Each year our supporters pull together and DOUBLE any donation they make through the Big Give website. This campaign has raised in excess of £1.2 million for Reverse Rett since we first starting taken part. This has enabled us to fund a number of research projects over the years, including gene therapy research at the Cobb Lab which has now moved into a commercial gene therapy program through Neurogene. Neurogene recently announced that they have received FDA approval for their Rett syndrome gene therapy product NGN-401 clinical trial to start recruiting for children ages 5-10 in the USA.

CIPP RETT CENTRE APPEAL The Big Give Christmas Challenge has also enabled Reverse Rett to fund the CIPP Rett Centre in London. Focused on alleviating emotional, behavioural and autonomic problems in Rett, the Centre works to impact the day to day lives, health and longevity of some of the most complex patients with Rett in the UK.

Even before these combined national crises, families often struggled to find clinicians with either experience of managing the complex health of people with Rett syndrome or the will to learn, investigate and generate best practise through rigorous clinical research and publication which can inform the broader community.

THIS YEAR, FUNDING FOR THE CIPP RETT CENTRE HAS BEEN UNDER THREAT

The CIPP Rett Centre is based at King’s College Hospital in London and is currently 100% funded by Reverse Rett. The Centre receives no government funding and is not funded by any other charities or patient organisations. Reverse Rett funding of the CIPP Rett Centre enables children, young people and adults with Rett Syndrome from across the UK, who have an identified clinical need to have their health care managed by the Centre at no cost to them, without delay.

Whilst there are no approved (Tarquinio et al, 2015) treatments for Rett syndrome in the UK or EU, we know from research that if carefully managed, many children with Rett syndrome can live into adulthood and beyond. Living in the shadow of the Covid pandemic, national lockdowns, economic instability and tremendous pressures on the NHS, the reality is that many UK children, young people and adults with Rett are not receiving adequate healthcare.

ONE YEAR OF FUNDING FOR THE CIPP RETT CENTRE COSTS £338,000.

Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK. The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. Pediatr Neurol. 2015 Nov;53(5):402-11. doi: 10.1016/j.pediatrneurol.2015.06.003. Epub 2015 Jun 26. PMID: 26278631; PMCID: PMC4609589.

With gene therapies in clinical trials, we are moving closer to a time when treatments for Rett could significantly improve lives but without adequate health care, expertise and co-ordinated clinical management, many individuals with Rett syndrome will not live to benefit from these treatments. Please help us continue our vital work by supporting the Reverse Rett Big Give Christmas Challenge.

This year the challenge will begin on Tuesday 28th November at Midday. We really hope you will join us again and DOUBLE any donation you can make, big or small through the Big Give website.

“Reverse Rett referred us to the CIPP Rett Centre in London just after Alba was diagnosed. We felt a huge wave of 'finally someone gets it' and can help. They called us weekly to check on Alba and made sure to note any concerns we had.To have access this clinic feels like such a safety net.” - Megan, mum to 3 year old Alba

“The CIPP Rett team made a plan personalised to Lauren’s complexities. This has already proved invaluable for someone with the tangled symptoms and volume of different medicines that she takes. The CIPP Rett Centre has really made a huge difference to our lives.” - Helen, mum to 16 year old Lauren

“The focus of the CIPP Rett Centre is to be a beacon of care and support for patients with Rett Syndrome all across the UK. We strive for clinical excellence and will continue to impact the lives not only of the individual patients and families we care for but also, of the wider Rett community.” - Professor Paramala Santosh, Clinical Lead at the CIPP Rett Centre

Reverse Rett is the only UK charity to fund:

DIDYOU KNOW?

The CIPP Rett Centre Rett Registry UK Laboratory research which has led to current gene therapy programs Taysha Gene Therapies and Neurogene Every year we have to raise a minimum of £750,000 to keep the projects we support going. We need your help to continue our work

The Reverse Rett Game-Changers Bravo to the awesome people who have been making change happen this Summer. Adam Lea Amal Woodhouse Anna Soccard Bann Hire and Sales Ben Thorne Beth Marshall Bonnie McKendrick Brendon and Aden Mackenzie Caroline Preston Catherine and Ross McKinney Catherine Savidge, Emma Savidge and Team Beth Catherine Sim Charlotte Grey Chloe Leila Chris Green Chris Lowe Christina Keskini Claire and Mark Walls Clare Millichap Dan Thorne David Fisher Deo Gratias Choir

sters & The McMa neys The Mickin

Chris Green

Donna Hunt with Team Dan ni

Donna Hunt, Darren Hunt, Jordan Hunt and Team Danni Elicia Davies Elisha Cameron Emily Marsden & Dave Gilbert, Team Daisy Emma Parker Erin Eaves Harry Nesbitt Harry Thompson Helen Mortimer Hobbs House Bakery Ian Harcourt Jackie Larmer James Stewart Janice Dawes Jessica Chambers Joanna Cobley Joanna Snyder Joanne Mair Julia Low Karin Ivamy Kate and Scott McMaster

Graham Stuart & Mary

Roger Barrow & Adam Lea

Laura Quinn Lenta Space Lindsay Sparkes Lis Christopher Louise Billingsley Louise Wainwright Lucy Graham Mark ‘Mavis’ Reilly Mary Graham Megan Shepherd Mid-Ulster Granite and Stone Co Nicola Beesley Owen Parry Pam Monti Peter Johnston Rachael Stevenson Ray Holden Robbie Anderson Roger Barrow Rupert Hodges Samantha Smith Sarah and Michael Taylor Simon Tiplady Stephen McCall Stevie Mackenzie Summer Balch Tanya White Teresa Thomas The Sea to Summit Team Wesley Havill Winton Brewery

Team Alba

Team Edith

Team Daisy 24

Meet the Sea to Summit Team Who are this group of fearless individuals driven by a shared mission to make a positive impact.? Read more about this team who have set off on a emarkable journey to climb Kilimanjaro syndrome. “Hi, I’m Alison. I work in the pharmaceutical industry and I have 2 children. I love enjoying and appreciating nature in lots of ways, including walking amongst it. I am excited about having this opportunity to travel to Africa to hike up Mt. Kilimanjaro and raise awareness of this wonderful charity.”

Alison "I’m Jo and love being outside. I have taken part in various physical challenges over the last few years. I started with 6km sea swim in Italy. Then a triathlon with a sea swim (I was so slow the kids were cheering “hurry up” and I came 3rd from last but I enjoyed taking part) and last year a 100km cycle last year. When the chance to climb Kilimanjaro and raise money for Reverse Rett came up, it sounded like a great adventure. When I’m not enjoying myself, I work as a GP and have 2 kids.”

Emma Jo

“I’m Laura, a PA and mum of 3. I have known Catherine for 14 years since before we had our first kids. I have supported Reverse Rett in many small ways over the years since Eliza was diagnosed, but jumped at the chance to climb Kilimanjaro when Catherine suggested I join.

Laura

My husband and I enjoyed views of the mountain from a sun lounger in Arusha on honeymoon many years ago, but never thought I would attempt to get to the top! Can’t wait to return to Tanzania and take on the challenge to support this amazing charity.”

“Hi, I’m Catherine - I’m a mum of four, Reverse Rett trustee and teaching assistant at a school for children with autism. My family has organised several fundraising events since our 12-year-old daughter Eliza was diagnosed in 2014, and last year my husband Ross rowed across the Atlantic with Five in a Row. Before we had kids, we did a lot of travelling and hiking, and I have always wanted to climb Kilimanjaro. I decided that this was my year for a big challenge! Word spread about the climb and I’m delighted that this great group of women decided not only to join me, but also to help raise money for Reverse Rett.”

Chloe

Catherine

Sarah

“Hi, I’m Sarah and I am a neuropsychologist at the Royal Infirmary of Edinburgh. I have three kids and love being outdoors. I feel grateful that I have the fitness and ability to climb Mount Kilimanjaro. I want to raise money for girls like Eliza who don’t have that opportunity - and to inspire girls without Rett to go on adventures and take on any challenge they want in life.”

“Hi, I’m Penny. I'm a primary school teacher, wife, and mum of two children. I love adventures, so when an opportunity to climb a big hill with friends, as well as raise money for an amazing charity came up, i jumped at it!”

Penny

Catherine & Georgina

“I'm Fee, lover of all things outdoors and mum of two adventurous boys.I'm doing Kilimanjaro as a personal challenge, an amazing opportunity for an adventure while raising funds for the inspirational girls & their families living with Rett syndrome. Bring it on!!”

Fee

Soraya

Sea to Summit Team Amal with Amber

Kilimanjaro

Click here to follow thier journey

For Eliza 26

BITESIZE Upcoming bitesize sessions Emerging Gene Therapies Bitesize October 26th 2023 @1pm Presented by Rachael Stevenson, CEO Reverse Rett What is the process for gene therapy clinical trials? Are there stages? What is involved in the regulatory process once a product is shown to be effective? Join us for our second Emerging Gene Therapies Bitesize session for a deeper dive into all of the above as well as a closer look at the Rett gene therapy trials protocols.

Rachael Stevenson

Emerging Gene Therapies Bitesize November 17th 2023 @1pm Presented by Dr Daniel Lumsden, Consultant Paediatric Neurologist and Lead Clinician, Rett syndrome clinic, Evelina Children’s Hospital With updates expected from Taysha Gene Therapies in late October/early November, join us for this session with Dr Daniel Lumsden who will help break down the latest publicly available Rett gene therapy information followed by Q&A. Register here to join this event

Dr Daniel Lumsden

www.reverserett.org.uk

New Address: Reverse Rett Beehive Lofts Jersey St Ancoats Manchester M4 6JG 07596 139 466

Find us on Facebook, Twitter, Instagram and Vimeo under 'Reverse Rett'

info@reverserett.org.uk Registered charity in England & Wales, charity number 1136809 and in Scotland, charity number SC046735. A company limited by guarantee number registered in England & Wales, company number 07278507.