Cystinosis Foundation UK

There’s still time to share your voice to help decision-makers understand the day-to day impact of cystinosis and its treatment.

Anyone living with or caring for someone with cystinosis can participate, irrespective of where you live.

👉Visit https://tinyurl.com/CystinosisTreatment to complete the survey.

Not a fan of online questionnaires? No problem. Contact Metabolic Support UK by calling 0845 241 2173 to complete the questions over the phone or request a paper version (EU only).

Your answers will be treated confidentially. This questionnaire will close on Sunday the 8th of September 2024.

Our work on this project is in collaboration with Kidney Research UK, the leading kidney research charity in the UK, which is on a mission to end kidney disease, and Metabolic Support UK, the leading organisation for those affected by Inherited Metabolic Disorders (IMDs).

A grant was received from Chiesi Ltd to support this project.

Do you have experience of cystagon (mercaptamine), procysbi (cysteamine bitartrate), or both?

Take part in our questionnaire to help decision-makers understand the impact cystinosis and its treatment has on the day-to-day quality of life of people living with cystinosis, as well as their parents and carers. Anyone living with or caring for someone with cystinosis can participate, irrespective of where you live.

Not a fan of online questionnaires? No problem. Contact Metabolic Support UK by calling 0845 241 2173 to complete the questions over the phone or request a paper version (EU only).

Your answers will be treated confidentially. This questionnaire will close on Sunday the 8th of September 2024.

👉 Visit https://tinyurl.com/CystinosisTreatment to complete the survey.

Our work on this project is in collaboration with Kidney Research UK, the leading kidney research charity in the UK, which is on a mission to end kidney disease, and Metabolic Support UK, the leading organisation for those affected by Inherited Metabolic Disorders (IMDs).

A grant was received from Chiesi Ltd to support this project.

We can't wait to welcome you all to Manchester from tomorrow for the CNE International Cystinosis Conference.

Whether you live in the UK or are travelling from abroad we look forward to meeting you! Be sure to look out for our trustees and introduce yourself.

What are you most excited about the conference? Is there a particular talk? Or perhaps the opportunity to meet other families?

There's only 2 weeks to go until we welcome you all to Manchester for the CNE International Conference. Now is a great time to check out the agenda and decide which panels you want to attend.
https://www.cystinosis-europe.eu/s/outline-agenda-CNE-International-Conference-2024-29022024-hxty.pdf

Have you completed this survey yet? They are still looking for participants from the following groups:

- parents of children aged 0-4
- parents of children aged 5-7
- parents of young adults aged 18-26
- children aged 8-12
- teenagers aged 13-17

Participants are needed for the testing of a newly developed questionnaire to measure the quality of life of patients with cystinosis.

https://www.cystinosis.org.uk/news/qualify-us-study/

Participants are needed for the testing of a newly developed questionnaire to measure the quality of life of patients with cystinosis.

https://www.cystinosis.org.uk/news/qualify-us-study/

Well done Mark! He successfully completed the London Marathon, raising over £4,000 for us including gift aid, in memory of his friend's son, Jack who sadly passed away.

Mark and supporters are pictured here after finishing the marathon on Sunday.

We'd like to wish a massive good luck (and thank you!) to Mark Taylor who is running the TCS London Marathon tomorrow to fundraise for us. Take a look at his JustGiving page to find out why he has chosen us and please consider making a donation.

Mark Taylor’s fundraiser for Cystinosis Foundation UK Help Kelly Church raise money to support Cystinosis Foundation UK

📣 It's today, join us in spreading awareness and understanding about .

💊 Living with kidney disease means a lifelong commitment. Taking daily medication is just one of the many challenges kidney disease brings...

▶️ Learn more about life with kidney disease via: https://www.worldkidneyday.co.uk/are-you-kidney-aware/

There is still time to vote in the poll to understand the lived experience of cystinosis in the UK (and if you have voted you can visit again and vote on new statements).

https://polis.crowdwisdomproject.org/4jhhtjbfbk

The images below show some of the top-level results so far.

💗 Today is , an opportunity to raise awareness of the 300 million people worldwide living with a rare disease, and of their families and carers.

🫶 Staff from The Centre of Rare Diseases, based at Queen Elizabeth Hospital Birmingham, held an atrium stand this afternoon to highlight the incredible work they do. The centre was funded by Queen Elizabeth Hospital Birmingham Charity and offers a ‘one-stop-shop’ where patients can receive all of their specialist care, seeing patients from all over the UK. Since launching in 2015, the Centre has held more that 65,000 appointments with patients with rare diseases across 100 different clinics.

Senior Sister Kelly-Anne Goodwin said, “At the Centre for Rare Diseases, patients can have all their tests and consultations in one day, which saves time and reduces stress. Today we’re raising awareness of the Centre and letting people know what we do.”

For more information about the Centre for Rare Diseases and how you can support it, visit ➡ hospitalcharity.org/centreforrarediseases

It's great to see bigger charities raising awareness of cystinosis.

🚨 IT'S OFFICIALLY RARE DISEASE DAY ACROSS THE GLOBE 🚨

Join us in marking Rare Disease Day 2024 now that it's finally here! Let's unite in solidarity with the millions worldwide living with rare diseases. 🌍 Spread awareness, share stories, and show support for them.

Together, we can make a lasting impact and shine a light on these often overlooked!

Let's make today count by raising awareness and advocating for those who need it most. Every voice matters in the fight for understanding and support.

Visit our website to find out more:https://www.rarediseaseday.org/

Tomorrow is Rare Disease Day globally! Make sure to join the Global Chain of Lights! 🌍💡

The rare disease community will come together for Rare Disease Day to spread hope and solidarity across the world by lighting up for rare! Monuments, offices, schools and homes will be illuminated in the Rare Disease Day colours (green, blue, purple and pink) to raise awareness for the 300 million people living with a rare disease and their families. 🏛️🏢🏫🏠

Make sure to join in on 29 February, at 7 PM in your local time!

Next Thursday (Rare Disease Day) we're hosting our virtual meet-up, Cystinosis Connect. We'll be discussing our plans for the upcoming conference in Manchester. Book your free place at the link below.

Cystinosis Connect - February 2024 Join us (virtually) for a Cystinosis Connect online meeting at 7.30pm on Thursday 29 February - Rare Disease Day!

Dear Friends,

Cystinosis Network Europe and Cystinosis Foundation UK are delighted to announce the 2024 International Conference is open for registrations! You can find out more on our dedicated webpage:

https://www.cystinosis-europe.eu/our-conference

We are looking forward to an exciting and interesting family conference, beginning with a welcome session on the evening of 25th July and full day sessions on 26th and 27th July, finishing with a fun filled hoolie! Some of our key speakers include:

- Jordan Janz, the first patient on Dr Stephanie Cherqui’s gene therapy clinical trial;

- Prof Herbie Newell, principle investigator of the CF10 drug development project at Sunderland University;

- Dr David Game, local Principal Investigator for RaDaR, the national registry for rare renal diseases in UK and NHS lead on rare disease treatment hubs;

- Dr Paul Grimm, cystinosis and renal health clinician and researcher.

The conference will offer complimentary child care for our younger attendees aged 0-12 years and activities for teenagers and adults are provided so you can bring all the family. Family accommodation is also subsidised by the organisers to support families attending.

Translation will be provided from English to Dutch, French, German, Italian, Russian, Spanish and Turkish.

The family meeting will have sessions including introductions to what cystinosis is; living well with cystinosis; updates on research and developments in therapies; and lots of opportunities to ask questions and learn more!

Please note, financial travel grants are also available to families on a request basis. To find out more, please email [email protected].

We look forward to seeing you in July!

Could this be you? We're looking for 4 volunteers to help tease out the most important issues raised from the recent consensus poll. We are hoping for an in-person meeting (all expenses paid) for the panel in Birmingham in mid March. If you are interested in being part of the panel please get in touch for further information, email [email protected] or send us a private Facebook message.

**Have you voted yet? ** Make sure you have your say on this fascinating poll of cystinosis statements. If you're one of the 42 who've had their say thank you for your votes and the extra statements added. Really interesting to go back in and vote again. The poll is due to close on Monday.

Understanding the lived experience of cystinosis in UK Recordati Rare Diseases UK (RRD) are a pharmaceutical company focused on rare diseases. We believe that each person with a rare disease has the right to the best treatment. To understand better and support this aim RRD have funded and initiated this anonymous cystinosis survey for people in the UK w...

We have been working with Recordati Rare Diseases UK to produce an online survey to help understand the lived experience of cystinosis. Although some questions relate specifically to the UK there are many that relate to anyone with cystinosis anywhere. The survey simply asks you to vote (agree, disagree or pass) on a number of statements. What makes it special is that you can add your own statements if you think a particular issue hasn't been mentioned. The survey will run from Sat 3rd Feb to Monday 12 Feb so it's worth logging back in towards the end to vote on the statements that others have added. All votes are anonymous, so say what you think!

Link to survey:
https://polis.crowdwisdomproject.org/4jhhtjbfbk

We are also looking for 4 volunteers (individuals with cystinosis and carers) to help form a Patient Panel that can look more closely at the results of the survey and help tease out the most important issues. We are hoping for an in-person meeting for the panel in Birmingham in mid March. If you are interested in being part of the panel please get in touch for further information, email [email protected] or send us a private Facebook message.

One month to go…

There’s only one month to go until 2024. Learn all about our theme for this year and see how you can get involved now.
👉 https://ow.ly/WVub50Qvpbg

We are looking forward with excitement to the CNE International Conference in Manchester that we are hosting on 26 and 27 July 2024. The conference will be based at a central Manchester hotel and we are delighted to announce that confirmed speakers include:

• Jordan Janz, adult with cystinosis and first participant in Dr Stephanie Cherqui’s gene therapy trial
• Prof Dr Elena Levtchenko, Emma Children’s Hospital, Amsterdam UMC – international expert clinician and researcher in cystinosis
• Prof Herbie Newell, Professor of Drug Development at the University of Sunderland, UK – developing a new prodrug, CF10, for cystinosis
• Prof Anuj Chauhan, Professor Chemical and Biological Engineering at the Colorado School of Mines, US – contact lens drug delivery for cystinosis
• Dr Katharina Hohenfellner, RoMed Clinic, Germany – clinician and researcher in cystinosis and coordinator of an expert centre in cystinosis
• Dr Paul Grimm, Professor of Pediatrics, Medical Director, Pediatric Kidney Transplant Program, Stanford , US – clinician and researcher in cystinosis with specialism in kidney health and transplant

As well as expert speakers giving updates on research and developments in the understanding and potential treatment of cystinosis, we will have sessions for families, parents, teenagers and adults with cystinosis. We will also offer supervised childcare for the younger attendees and simultaneous translation from English to Dutch, French, German, Italian, Russian, Spanish and Turkish.

The booking portal will open in January where you will be able to book for the conference and accommodation. Our conference booking partner will also be able to help with travel options.

Best wishes to all in our community for a safe and happy festive season, and a bright new year,

Will Newman
On behalf of the organising committee

We have received this message from Novartis regarding their gene therapy program for cystinosis:

"Dear Cystinosis Community

In May 2023, Novartis acquired the investigational autologous hematopoietic stem cell (HSC) gene therapy program for the treatment of cystinosis from AVROBIO. We look forward to continuing the development of this program and bringing new hope to patients with cystinosis.

We thank you for your patience as we work quickly to transfer the knowledge base built by AVROBIO and build the infrastructure to support this new clinical program. This process is well underway but will mean that previously communicated timelines by AVROBIO for the next phases of the program will change.

Novartis Gene Therapies is committed to working with our partners in the cystinosis community by collaborating with each advocacy group to hear the community voice and further understand what is important to you as we develop this new therapy. The cystinosis advocacy community are strong allies who we are partnering with to deepen our understanding of this disease as we advance promising science with transformative potential for cystinosis.

We look forward to continuing our close collaboration with the cystinosis community and commit to providing you with updates on a regular basis as we have more information available to share.

Sincerely,

The Novartis Gene Therapies Cystinosis Development Team
Medical Information (US/LACAN): [email protected], 1-833-828-3947
Medical Information (Europe, International): [email protected], +353 (1) 566-2364"

🚨MAJOR ANNOUNCEMENT🚨

The Cystinosis Network Europe (CNE) International Conference will be hosted by Cystinosis Foundation UK in Manchester, England, from 25th to 27th July 2024. The scientific meeting will be held on 25th July, with the family meeting on 26th and 27th July. Please save the date!

We are delighted that Dr Graham Lipkin, consultant nephrologist at Queen Elizabeth Hospital Birmingham, is leading our scientific organising committee, working with other experts in the clinical and scientific fields as well as our family and community representatives to put together an agenda that will be engaging, informative and fun. As always, the meeting will have child, adolescent, adult and parent sessions with childcare and translation to multiple languages provided.

More details will be announced on the conference website www.cystinosis-europe.eu as they are confirmed.

Watch this space! Exciting news coming soon.

We'd like to wish good luck and say thank you to Mark, Lee and Jordan who are fundraising for us by taking part in the Epic Man 70.3 Triathlon today, consisting of 1.2mile swim in Ulls Water Lake, a 56 mile bike ride, followed by a 13.1 mile run.

Fundraising page:

EPIC MAN 70.3 Mark Jordan and Lee, organized by Amy Ordish Do you want to join me in making a difference? I'm raising money in aid of CYSTINOSIS FO… Amy Ordish needs your support for EPIC MAN 70.3 Mark Jordan and Lee