Reverse Rett Matters - January 2024 by Reverse_Rett

Research Advocate Cure

Dear friends Welcome to the first Reverse Rett Matters of 2024. What a start we’ve had to the year with not just one but TWO gene therapy Clinical Trial Applications cleared by the UK regulator, the MHRA. This is a pivotal moment in Rett history. We know now that both adults and children have been dosed with Rett syndrome gene therapy products and that to date, there have been no safety issues reported. This is the best result we can hope for at this stage.

Contents Intro

Gene Therapy update: Neurogene

4-5

Gene Therapy update: Taysha Gene Therapies

6-7

Understanding expressions of interest

8-9

Can you Rise for Rett?

10-12

Oliver Freeman: New Trustee

The Reverse Rett Game-Changers

14-15

Top 10 Fundraising Tips

16-17

Flash, bang, wallop, what a picture…..

Reverse Rett Reverse Rett Beehive Mill Jersey Street Ancoats Manchester M4 6JG 07596139466 enquiries@reverserett.org.uk www.reverserett.org.uk Trustees Chair: John H Sharpe Vice-Chair: Helen Simmonds Staff team CEO: Rachael Stevenson Clinical Trial Lead/Supporter Care: Andy Stevenson Operations Manager: Catherine Sim Design/Marketing: Wesley Havill Patient Registry Co-ordinator: Ewelina Wasowska Reverse Rett Matters Designer: Wesley Havill Edited by: Rachael Stevenson

January 2024 • Reverse Rett Matters

Fifteen for fifteen

LEAP Education Day

20-21

Emerging Gene Therapies Bitesize sessions

Reverse Rett calendar 2024

Although all of us as parents are desperate to hear that these treatments are making a difference to the health and abilities of people with Rett syndrome, in the first instance the focus of clinical trials is always about safety. Later in the year, we hope to hear more news about ‘efficacy,’ how the products are working to make things better for the brave patients on the clinical trials. At Reverse Rett, we have always been focused on speeding the time it takes to bring about treatments for Rett but in the last few years, we have especially focused on ensuring that the UK is a positive and powerful location to hold clinical trials for potential treatments for Rett syndrome. Now, thanks to the reported MHRA approvals of CTAs for both Taysha and Neurogene, this year we will see another dream realised when the first UK gene therapy trials begin in children with Rett. As always we will share developments with you as they come in. We know that these are hopeful times for patients and families and how important it is that we are clear about what is happening, when and why. To that end, in the last quarter of 2023, we ran three consecutive monthly Emerging Gene Therapies Bitesize sessions and we’ll be continuing to run those monthly until May 2024.

We’re delighted that industry sponsorship means that we can run this conference at no cost to Reverse Rett and we can offer free accommodation to 10 families who would otherwise be unable to attend. These are critical times for the UK Rett community. However we prefer to paint it, Rett syndrome is a condition that takes a searing toll on affected children, young people and adults. It takes a toll on their families as well. At Reverse Rett, we have always been hopeful. We have always believed in the power of science and found strength in taking action to make the future different, if not for our own children, then for future generations. But potentially disease-modifying treatments are now within reach. Families now have more opportunity than ever before to see their own children benefit from this hard-wrought research progress. That’s why it’s more important than ever, that we use the information, tools and resources we have developed to help our much-loved people with Rett stay as well as possible so that they are able to benefit from the emerging treatments which could ultimately make such a difference to their lives. With infinite appreciation to everyone who has helped make this possible. Rachael Stevenson, Co-founder/CEO Reverse Rett

You can find the links to all the recorded Bitesize sessions to date and sign up for future Bitesize sessions on page 22. On page 23, you’ll see a full calendar of Reverse Rett events we have lined up so far for 2024. One of those is the LEAP Education Day. In June, we are holding an in person, (yes, in real life!) one day conference at the Brooklyn Hotel in Manchester when we will be welcoming leading clinicians, industry partners and families and carers from all over the UK and beyond, to . Manchester for this one day intensive program of learning, empowerment, advocacy and preparation (LEAP!) for what lies ahead for the UK Rett community.

January 2024 • Reverse Rett Matters

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Gene Therapy News Neurogene On 5 January 2024, Neurogene announced a business update and 2024 outlook. This news included the announcement of MHRA clearance for a UK clinical trial of Neurogene’s NGN-401. We will share more information as soon as we are able. In the meantime, here are the key takeaways: The UK regulator, the MHRA has approved Neurogene’s clinical trial application for NGN-401 in children with Rett syndrome. This means that the company is able to expand the current clinical trial outside the USA to include children with Rett syndrome in the UK. This is part of a wider strategy to expand the clinical trial globally. The ongoing trial of NGN-401 currently specifies a cohort, or group of five patients who will each receive a lower dose of the gene therapy straight into the brain. In the first half of 2024, Neurogene plans to expand the trial to include more patients to go into this first group receiving the lower dose of the gene therapy and a higher dose cohort or group so that they can make sure that they are getting the best possible results out of the product whilst still ensuring that they have strong safety data to take to regulators. Neurogene also announced that it has extended its research collaboration with the University of Edinburgh for an additional three years allowing them to continue to advance a number of products for different diseases using the same proprietary technology as they are using in NGN-401.

January 2024 • Reverse Rett Matters

What to look for in 2024 Expanding the ongoing phase 1/2 clinical trial for NGN-401 for Rett syndrome in the first half of 2024 to include more patients. Reporting of the interim data for NGN-401 for Rett syndrome in the last quarter of 2024. From left to right: Dr Rachel McMinn with Prof.Stuart Cobb

Did you know? Through our longstanding partnership with the US based 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.

We are pleased that the MHRA has approved our clinical trial application for NGN-401, allowing us to enrol paediatric patients with Rett syndrome in the UK.

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.

We recognize the urgency of our mission and are grateful for this opportunity in the UK, which furthers our collective pursuit of a brighter future for those affected by Rett syndrome.

We are delighted for Stuart and send our congratulations to him, all his colleagues at the University of Edinburgh and our deepest thanks to Neurogene Founder, Rachel McMinn and all the team at Neurogene!

Rachel McMinn, Ph.D, Founder and Chief Executive Officer, Neurogene Full press release here

January 2024 • Reverse Rett Matters

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Gene Therapy News Taysha Gene Therapies On 10 January 2024, Taysha Gene Therapies announced a press release sharing the news that the UK regulator, the MHRA has approved their Clinical Trial Application (CTA) for a UK clinical trial of Taysha’s product TSHA-102 in children with Rett syndrome. Please see below for the full press release, key takeaways and Taysha’s community letter.

Key takeaways The first child with Rett syndrome has been dosed with TSHA-102 in the USA. The MHRA has authorised a CTA to expand the ongoing US children’s trial to the UK. There are two parts to the study. The first part will include patients age 5-8. Three patients will receive the low dose. The next three patients will receive a higher dose. The second part of the study will expand to include up to 21 patients age 3-8, dose is yet to be confirmed.

Did you know? Through our longstanding partnership with the US based RSRT, Reverse Rett has provided a significant level of funding for the MECP2 and Gene Therapy Consortia whose work led to the development of TSHA-102. The MECP2 and MECP2 Gene Therapy Consortia received over $2,220,000 from Reverse Rett over the last fourteen years which helped enable this work to move from the laboratory bench to human clinical trials. We are delighted for Sir Professor Adrian Bird and Dr Steve Gray and send them and all their colleagues at the University of Edinburgh, UT Southwestern (previously University of North Carolina, Chapel Hill) and Taysha Gene Therapies our deepest thanks and congratulations!

Read Tayshas community letter here

In the relentless pursuit of life-changing treatments for Rett syndrome, it’s essential that we continue to contribute to research projects focused on developing better, less risky, more effective treatments for everyone with Rett syndrome. You can help by starting a fundraiser today. Email andy@reverserett.org.uk to find out how you can help.

Rachael Stevenson, CEO, Co-Founder, Reverse Rett

Full press release here

January 2024 • Reverse Rett Matters

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Call-out for expressions of interest by Catherine Sim and Rachael Stevenson

In June of 2023 we started writing out to the parents and carers of patients on the Rett Registry UK to ask whether they would be interested in their family member taking part in gene therapy clinical trials. This is what is known as a ‘call-out for expressions of interest.’ Once we get these responses from families and caregivers, their response is recorded within their family member’s record on the Rett Registry UK. This forms an internal ‘list’ of patients whose families may be interested in volunteering for upcoming gene therapy trials. We are then able to sort the list into age groups and by other criteria as needed. This information is useful for the pharmaceutical companies running the clinical trials and for the doctors who are likely to be involved. They need to know that when clinical trials start in the UK, there will be no delay in bringing patients forth whose families would like them to be screened for the trials. We started sending the expressions of interest emails in the under 3 age group. At the time, we only had 8 registered patients in this group. 3 families replied saying yes which constitutes 37.5%. Even though the UK trials currently projected to start this year are not in this age group, entry into clinical trials is typically staggered over a period of time. Taysha Gene Therapies’ current protocol states that the company plans to expand the multi centre international trial to patients 3-8, therefore as children grow and get older, it is important for us to know how many ‘rising’ 3-year-olds we have out there as well. We then went to the 4-8-year-olds in this group we sent out 87 emails and have had 47 yes, responses (54%). The next group was the 9- to 12-year-olds. We sent 58 emails and had 26 yes responses (45%). In the 13-18-year-olds, 74 were sent out and 33 responded with a yes (44%). Our final group was the over 18’s we sent 131 emails and have had 54 yes responses to date (41%). January 2024 • Reverse Rett Matters

As a mother to a 28-year-old woman with Rett syndrome, I am not surprised at the number of positive responses we have received. To ensure we can demonstrate the clinical need for gene therapy in the UK it is vital that we have as many patients on the Rett Registry UK as possible. And even if you are not interested in gene therapy, we still need to know your loved one exists so that we can tell the regulators how many people are affected by Rett in the UK so that they can work out how they will fund new treatments and organise clinical centres capable of delivering them.

More about the Count Me In project and why it is important Demonstrating viability for UK gene therapy trials is important, but perhaps even more important is demonstrating the overall need for treatment for Rett syndrome in the UK. A critical element of that is showing that the number of patients registered, marries up with disease incidence so that when NICE/SMC come to review expensive treatments for Rett syndrome, they can be confident that they know how many patients will need it.

You can help! Do you know any other parents with a child with Rett syndrome? Can you ask them if they are on the Rett Registry UK?

Send them this link! rettregistry.uk

At Reverse Rett, we have made tremendous progress in helping to bring gene therapy trials to the UK. To ensure these potentially disease-modifying treatments can become available to everyone, we need to show the true picture of Rett in the UK populati we We have lost too many loved ones with Rett. Others continue to struggle with painful surgeries and debilitating symptoms. This is why bringing treatments that can clinically stabilise children and adults with Rett syndrome without delay is of the utmost importance.

45 Scotland 7 Northern Ireland 8 North East 40 North West 23 Yorkshire and The Humber 28 East Midlands 27 West Midlands 13 Wales 32 East of England 38 London 68 South East 36 South West

As part of the work to ensure we know how many UK individuals we have with Rett syndrome, we have also been making freedom of information requests to local authorities asking about the patients they may have on their records. This work is part of the Count Me In project which has been funded through the 2022 Big Give Christmas Challenge. The Freedom of Information request outreach is a big project in and of itself, as there are over 400 Local Authorities in the UK. Local Authorities have 20 working days to respond. So far, we have had a mixed bag when it comes to responses some authorities are extremely helpful and others say due to the nature of their system, the work involved would take longer than the allocated hours allowed. Typically this is due to older databases and recording systems.

Demonstrating where there are concentrations of children, young people and adults with Rett syndrome in the UK is also important in terms of thinking about where these treatments should be delivered, once they are proven to be safe and effective As you can see from the map below, we still have work to do!

From left to right: Georgina with her sister Charlotte and mum Catherine, Operations Manager at Reverse Rett.

In the first instance, UK gene therapy clinical trials will only be open to a very small number of patients. Responding to a call out for expressions of interest at Reverse Rett does not mean that you are consenting to take part in a trial. It means that we are able to reach out to you with further information as and when sites request additional patients from the Rett Registry UK.

January 2024 • Reverse Rett Matters

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Can you Rise for Rett? 2024 is already proving to be an exciting year for the UK Rett Community with two Rett gene therapy trials approved to start right here in the UK. But until the trials are able to demonstrate that these new treatments are safe, effective and ultimately recommended for funding by NICE/SMC, our work continues. And before we can even get to that point, there are some key things that we need to do: We need to find and register at least 70% of the estimated UK Rett population on the Rett Registry UK. This is because NICE/SMC want to see that the actual patient population marries up with the disease incidence. We need to continue working with the pharmaceutical companies working on emerging treatments for Rett to ensure that the UK is recognised as a premium location to hold clinical trials of disease-modifying treatments. We need to build tools and resources to support the campaign for UK regulators and payers to recommend funding for these treatments when they are proven to work so that there is minimum delay to the wider population accessing emerging treatments as and when they are proven to be safe and effective. We need to help develop a cohesive network of trial sites and clinical teams to deliver emerging treatments once they are demonstrated to be safe and effective through clinical trials. We need to continue funding the CIPP Rett Centre who are the only clinical treatment centre dedicated to managing neurobehavioral health in Rett syndrome in the UK. The CIPP Rett team will be vital in making the most of clinical outcomes in older and or more complex patients with Rett syndrome, post access to emerging disease modifying treatments and critical now, in helping patients stay healthy until these treatments become accessible to them.

January 2024 • Reverse Rett Matters

We need to continue to share the latest information and resources about staying healthy with Rett syndrome to ensure that as many of our children, young people and adults with Rett as possible are here to benefit from these emerging disease modifying treatments as they become available. At Reverse Rett, we are a small team but we achieve a lot with the funds we raise. However, unlike other rare disease charities, we have to raise more than our running costs so that we are able to invest in programs like the CIPP Rett Centre, the Rett Registry UK, our outreach work and ongoing lab research via RSRT. We do not receive any government funding and we do not have a dedicated Trusts and Foundations Fundraiser. The majority of funds we raise come from smaller events and challenges, people having cupcake sales, or asking for birthday donations from Facebook. In the past two years, we’ve started doing a lot of trekking challenges including challenges in the Sahara, Iceland, the Lake District, the Jurassic Coast and the Glasgow Kiltwalk.

We have four Reverse Rett team challenges taking place this year and we already have lots of families and supporters joining. Newly diagnosed families are joining forces with families who have been battling Rett for years and both are bringing their wider family and friends along with them to build a formidable force. Lake District Ultra Challenge on the weekend of June 8th. Different distance options available. People have signed up for both the 100k continuoption (RR CoFounder, Andy Stevenson and team) and the 50k one day distance. South West Coast Challenge 50K on the 3rd August Kath Thorne, Alba’s auntie and friends, people are welcome to join! South Coast Ultra Challenge, 100K over two days 7th/8th September (RR Co-founder, Rachael Stevenson and team welcome new trekkers and walkers please join!) If you prefer to run, we have guaranteed places for the Royal Parks Half Marathon on Sunday 13th October. It’s a race that always sells out quickly so if you want a place please get in touch with Andy Stevenson at andy@reverserett.org.uk ASAP.

Many of you have taken part in different runs and the participants have overwhelmingly enjoyed them. The camaraderie has been fantastic and the chance to meet and spend time with other parents living with Rett has been hugely therapeutic for everyone involved.

January 2024 • Reverse Rett Matters

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If you’d prefer to do your own thing or choose your own challenge to do with family and friends then please check out the Events page on the Reverse Rett website. It doesn’t have to be a physical challenge. Plenty of Reverse Rett fundraisers find other creative ways, using their own individual skills and interests to rise for Rett. Here are some examples below: Aden and his dad, Brendon spent last Summer walking the length of the Thames in stages in honour of Shona. Ray Holden has held a yearly Charity Golf Day at his Golf club since 2012 in honour of Beth. Anna held a raffle at college in honour of Edith. Becky Whinnerah designed Reverse Rett Christmas cards in honour of her daughter, Ava. The future has never looked brighter for everyone who is committed to bringing about treatments for this devastating condition. If you aren’t already, now is the time to Rise for Rett! If you are new to fundraising or need some new ideas to help you get started or to maximise your fundraising then please check out the ‘Art of Fundraising’ workshop with Andy Stevenson on YouTube and feel free to get in touch if you have questions or need some help or inspiration.

Oliver Freeman joins the Reverse Rett Board of Trustees We are delighted to welcome, Oly Freeman to the board of Trustees at Reverse Rett. Oly is dad to Alfie, who has MECP2 Duplication syndrome (MDS) We are delighted to welcome, Oly Freeman to the board of Trustees at Reverse Rett. Oly is dad to Alfie, who has MECP2 Duplication syndrome. MECP2 Duplication Syndrome is caused by the same gene as Rett syndrome. In Rett syndrome, there are mutations or deletions in the MECP2 gene, whereas in MECP2 Duplication syndrome, the gene is mistakenly duplicated or in some cases triplicated. For more than 10 years, funds raised by UK MDS families in honour of their loved ones have been delivered to Cure MDS formerly the 401 Project via Reverse Rett. After the epic fundraising efforts of Jenny Howe, who single handedly kick started MDS fundraising in the UK, the MDS fundraising baton has now been picked up by Oly, his wife, Katie and other UK MDS families.

Rachael Stevenson CEO of Reverse Rett says: “We are delighted to welcome Oly to the board of Reverse Rett. Although MDS and Rett syndrome are two distinct disorders, they are caused by problems in the same gene. Children and young people with MDS also struggle with many of the same symptoms as those with Rett syndrome but sadly the prognosis in terms of longevity is worse. Bringing Oly onto the Board at Reverse Rett concretes our longstanding commitment to supporting the efforts of MDS families in the UK and providing the necessary infrastructure, resource and capacity to deliver disease-modifying treatments to children and young people with MDS as quickly as possible.”

From left to right: Alfie and dad Oly Freeman, Cure MDS UK and Trustee, Reverse Rett

We look forward to working alongside Oly and the other UK families to raise the profile of Cure MDS UK and to support the implementation of UK MDS clinical trials. Oly said “Our family was first supported by Reverse Rett in 2018, soon after our eldest son Alfie was diagnosed with MECP2 Duplication Syndrome at 6 weeks old. I've watched with admiration, the achievements of Reverse Rett and the Rett community within the UK in the quest for transformational clinical trials. Although fewer in number, I'm proud to be a part of a group of highly motivated families and their friends, whose loved ones have been diagnosed with MDS or other related MECP2 disorders, working just as hard to reach that same goal. It's a huge privilege to be appointed to the board of trustees of Reverse Rett. I hope to represent the MDS & related disorders within the charity and support the ongoing work of Reverse Rett as we all strive for life changing treatments for our loved ones."

January 2024 • Reverse Rett Matters

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The Reverse Rett GameChangers Bravo to all the awesome people who have been fundraising through Autumn and the first part of Winter. Angela Murray Ballymore Charity Craft Group Becky Whinnerah Chris Kelly Cooper Green and friends Todd, Max, William, Seb, Holly, Zach, and Willow Darren Brown David, Emma and Martha Ford Fiona and Andy Walton Gary and Carol Gruber Global-e Commerce Hannah Prebble Jayne and Georgie Fullbrook Jill Kaye

Lee Marchant and the Westbourne Orchestra Nick Jackson Oscar Shepherd Our Reverse Rett London Gala Guests Sean Bruce Simon and Lisa Tiplady The Members of Doric Lodge The Patrons of Turpin’s Pub, Anfield Violet Mathers Winton Brewery Fleming Agri Products LTD All of our Big Give Christmas Challenge donors

Hannah Prebble swan the length of the English Channel (21 miles / 34km) for her niece, Poppy and raised £2,3831

From left to right: Hannah Prebble and her niece, Poppy

This year School Lane Christmas Lights chose Reverse Rett as their charity to celebrate the life of beautiful Ciara Fowler. Anyone who follows the work of Reverse Rett will know of Ciara through the extraordinary fundraising efforts of her family and all at Team Ciara which has been running since 2012. Heartbreakingly, Ciara died last year from complications following scoliosis surgery.

From left to right: Ciara and her devoted mum, Gayle

In a special tribute to Ciara, this year, neighbours Simon and Lisa Tiplady presented ‘School Lane Christmas Lights’ in Ciara’s honour. Ciara’s family live just round the corner from the Tiplady’s house. As Ciara oved everything Disney, especially Frozen, her favourite Disney song, ‘Let it Go,’ was added to the light display. This display was not your average Christmas Lights, people travelled from all over the North West to enjoy the magical show which raised almost £2000 for Reverse Rett in honour of Ciara. The button to set off the lights was pressed over 300 times and the Let it Go sequence that played every time someone donated by card was played over 100 times. Thank you so much to Simon, Lisa and family for doing such a lovely thing for an inspirational girl and her amazing family.

January 2024 • Reverse Rett Matters

View ‘School Lane Christmas Lights’ JustGiving page here January 2024 • Reverse Rett Matters

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Top 10 Fundraising Tips

9, Fundraising fatigue – Most people who start fundraising feel empowered by it. Most though end up worrying about asking and mention people getting fundraising fatigue. There is nothing to worry about, people will donate or they won’t donate, it’s that simple. Reverse Rett have sent £8M to research since launching and that money was raised by families, their friends and connections doing what they can. The amount raised is irrelevant because added together it’s got us to the point we are at today. So, if you raised £500 last time but only £100 this it doesn’t matter, it all ends up in the same pot and collectively it’s made a difference. If all else fails then look at the person you are fundraising for and ask yourself ‘does she or he have Rett syndrome fatigue’ the answer is undoubtedly YES and that alone will get you setting up your next Just Giving page.

by Andy Stevenson

I recently held my first fundraising workshop on Zoom. Titled ‘The Art of Fundraising’ where I shared my experience of 25 years of taking on challenges for charity. It was aimed at both people new to fundraising who were maybe a little daunted and people who have been fundraising for years but were looking for a fresh approach. I was joined by two parents of children with Rett syndrome, Tanya White, whose daughter, Layla was diagnosed in May last year and Catherine Sim whose daughter, Georgina is 28. Both had very different approaches to making their challenges a success during 2023.

4, Not active on social media? - It’s hard to escape it but if you avoid social media like the plague then you need to think about the best way to approach people. The old-fashioned sponsor form is still a great way to fundraise. If you work from home and don’t see many people face to face then email or text them your link with the reasons you need their help, not many people fail to respond to a personal plea.

You can watch the session at the Reverse Rett YouTube channel by following this link but for now here are my Top 10 fundraising tips.

5, Mix up your posts - Tell them about your training. Be honest, none of us are athletes and we are trying to fit this in alongside everything else in life, explain individual symtoms that our children have to live with. Even if you don’t get a donation from every post you are still making people aware of Rett syndrome and all it brings.

1, Tell your Story – This is the key to making your fundraiser a success. Tell your potential supporters why you are taking on the challenge and why it’s important to you. Share photos and information of the person with Rett syndrome that you care about. 2, Rett syndrome research – There is a lot to be excited about with the imminent start of two gene therapy clinical trials here in the UK. People love being involved in a success story and who wouldn’t want to contribute towards making Rett the first neurological disease to be cured. 3, Play to your strengths on Facebook – if you are active on social media then be sure to share your story regularly. Due to the algorithms only around 20% of your friends will see your first post on their news feed. Make it stand out so they don’t just scroll past, use a photo, a happy, smiley one works the best and put your fundraising link at the bottom of the text. NEVER just share a link as that is taking people away from the platform, this ensures most of your friends won’t see it. The more you share the more people you’ll reach so don’t be shy.

January 2024 • Reverse Rett Matters

6, Think outside of the box – If getting people to donate is difficult for you then offer them something instead. Hold a cake bake at work, a quiz night in the local pub or approach your child’s school and ask if they can hold a nonuniform day in support of your efforts.

10, FINALLY and most importantly – Change your mindset, believe it when people tell you that you inspire them or that your person with Rett does. Rather than think ‘I can’t ask again’ think ‘I’m giving people an opportunity to support me.’ We all know that much of the time people can’t help with anything practical when you have a child with Rett syndrome but they can support your fundraising. They are also inspired by you taking on something like this and are usually happy it’s you doing it rather than them.

7, Always say thank you – It should go without saying but often people allow the automated message to express their gratitude for them. Always give an individual thank you to each person who stands with you and donates to your cause.

Watch ‘The Art of Fundraising’ workshop here

8, Examine your own behaviour – What makes you stop scrolling and grabs your attention, making you donate to a friend’s fundraiser? Don’t be afraid to copy, it’s the ultimate form of flattery.

If you’re stuck for ideas, get in touch with Andy Stevenson at andy@reverserett.org.uk

January 2024 • Reverse Rett Matters

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Flash, bang, wallop, what a picture….. During the back end of 2023, we introduced a new feature that adds a personal touch to the Rett Registry UK. This addition allows parents or carers of individuals with Rett or MECP2 Duplication syndrome to include a photo of their loved one, alongside their registry information. This is really important to us at Reverse Rett. We want to see the people who we are doing this work for. We want to be able, as much as we can to recall information about each individual as we are making any necessary changes to the record. It is much easier to do this, if we can put a face to the name. You might not believe this, (depending on your child’s name!) but as the Registry is growing, we frequently have multiple individuals with the same first name.

So where once we could individualise that way, this is often not possible any more. We are starting to see beautiful pictures appearing on the registry, but we would like to see more, We will never share these registry pictures for any reason without your express permission. if you have a picture of your child or adult (let's be honest, we’ve all got loads) then log into the registry and upload it or send it straight to Ewelina to add for you. Email: ewelina@reverserett.org.uk

Fifteen for fifteen Can you help make 2024 the best year ever for our 15th Annual Reverse Rett London Gala? Never mind climbing mountains or hiking around volcanoes, the Annual Reverse Rett Gala has the potential to raise a tremendous amount of money on just one glamourous, moving, and funfilled night. But the only way we can make this event happen, the only way we have ever made it happen is with the help of our event committee. These are usually London-based families or friends of someone with Rett syndrome and their main role is to invite their wider network to the Gala in support of Reverse Rett. As part of the event committee, your input will be welcomed on planning the event, making this, our 15th Annual Reverse Rett London Gala the best yet!

As this is the 15th Gala, we are looking for 15 people to make an impact. Could this be you? Or perhaps you know someone who would like to get involved? Get in touch with catherine@reverserett.org.uk

January 2024 • Reverse Rett Matters

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Reverse Rett LEAP Education Day Learn Empower Advocate Prepare At this one-day conference held in our home city of Manchester, we’ll be sharing all the latest information about gene therapy clinical trials and emerging treatments for Rett syndrome. We are delighted to say that the program is now as SOLD OUT as a free conference can be.

If there is enough interest, we will also arrange filming and share the sessions digitally afterwards, so please let us know if this is important to you! At this one-day, in person conference, we’ll be hearing from the doctors and pharmaceutical companies running current clinical trials of potential treatments for Rett syndrome. Topics we will cover include understanding gene therapies, including the status of current clinical trials and what’s involved in obtaining UK funding approvals once a given therapy is demonstrated to be safe and effective through clinical trials.

We’ll also be holding sessions sharing the latest information and best practises regarding keeping our people with Rett as healthy and safe as possible until disease modifying treatments become available. If you are keen to join and haven’t managed to get a ticket, you can still be added to a waiting list. Email catherine@reverserett.org.uk for more information.

When: June 1st, 2024, Time: 09:00am - 16.15pm Where: The Brooklyn Hotel, Manchester

From left to right: Prof Santosh, Rachael Stevenson, John Sharpe, Andy Stevenson, Dr Dan Lumsden, Dr Jay Shetty and Dr Aimee Donald.

Confirmed speakers: Dr Dan Lumsden, Prof Santosh, Dr Jay Shetty, Dr Aimee Donald, John H. Sharpe, Rachael Stevenson

January 2024 • Reverse Rett Matters

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Reverse Rett Emerging Gene Therapies Bitesize sessions In September 2023, we started holding Reverse Rett Emerging Gene Therapies Bitesize sessions to inform families, carers and professionals working with people with Rett syndrome about the gene therapies which are currently in clinical trials. These sessions have been very popular with 431 people signing up for the sessions and 578 views. Sessions are recorded and all presentations are followed by Q&A. If you are unable to attend, we encourage you to sign up anyway and the recording will be sent to you by email after the session. Click the buttons below to reserve your spot for the available bitesize sessions, and stay tuned for updates on additional sessions coming in April and May. Reverse Rett Emerging Gene Therapies Bitesize sessions 2024:

Check out and subscribe to the Reverse Rett YouTube channel where you can watch all the Reverse Rett Emerging Gene Therapies Bitesize sessions since we started the program in September 2023. Here’s what’s on offer: September - Intro to gene therapy, Rachael Stevenson October - Gene therapy clinical trials, Rachael Stevenson November - Dr Dan Lumsden

Stay Engaged with Us! Take a glance at our Reverse Rett calendar for upcoming events and challenges. If there's anything you'd like to learn more about, please don't hesitate to email us at info@reverserett.org.uk.

January

February

March

18th Emerging Gene Therapies Bitesize with Taysha Gene Therapies 11th Art of Fundraising Workshop with Andy Stevenson

22nd Emerging Gene Therapies Bitesize with Dr. Jatinder Singh

28th Emerging Gene Therapies Bitesize with Dr Jay Shetty

April

May

June

Emerging Gene Therapies Bitesize speaker tbc! 14th Manchester Marathon 21st London Marathon

Emerging Gene Therapies Bitesize, speaker tbc! 18th - 19th Jurassic Ultra Challenge 100K, registration still open

1st LEAP Education Day, Manchester 2nd Mark ‘Mavis‘ Reilly‘s Amazon Ultra 8th Lake District Ultra Challenge

July

August

September

Family Picnic Photoshoot, Manchester All Abilities Cycling tbc 6th - 7th Peak District 50Kregistration still open

3rd South West 50K Ultra Challenge -registration still open

8th Great North Run-4 places left! 7th-8th South Coast Ultra Challenge

October

November

December

Rett Syndrome Awareness Month 13th Royal Parks Half-marathonplaces still available

15th The 15th Annual Reverse Rett London Gala

3th -10th The Big Give Christmas Challenge

January 2024 • Reverse Rett Matters