Cystinosis Research Foundation

During Day of Hope 2024, we got to hear Dr. Benjamin Freedman present an update on his kidney organoid project!

Taking urinary cells from people with cystinosis, his team reprograms them into stem cells, uses CRISPR gene editing to add a healthy copy of the cystinosis gene and transforms them into kidney cells. His work will hopefully lead to gene-edited organoids in humans to improve kidney function!

Read other research updates from Day of Hope 2024 in the latest edition of Cystinosis Magazine: https://ow.ly/zaaF50SzVc9

As if we weren't already rare enough - with two FDA approvals, cystinosis is in the mere 5% of rare diseases that have an FDA-approved treatment!

With our FDA approval in 2013 for a delayed-release form of cysteamine, Procysbi, and another FDA approval in 2018 for a clinical trial to test Dr. Cherqui's stem cell and gene therapy, we could not be more grateful to our generous donors and brilliant researchers who brought this dream to life!

"Laura (LaLa) advocated for [Josie] with other teachers, explaining the disease, reminding them about her need for extra water refills and potty breaks, and was there to help the school nurse with any questions. Because of LaLa, Josie finished her first year strong," - Katie Kanupke, Josie's mom

It truly does take a village! Thank you, Katie, for sharing a story we can all relate to. And thank you Laura for being an extraordinary auntie!

Looking back on 20+ years of research, progress and breakthroughs, there is really one thing that started it all - hope. The wish of one little girl to have her disease go away forever.

Without hope, and the support of an incredible community of donors and researchers, none of what CRF has accomplished would have been possible. CRF turned hope into action!

Together, we shine bright!

Since 2003, the Cystinosis Research Foundation has funded 246 multi-year grants and raised over $70 million for cystinosis research, over $2.5M of which was raised in 2023 alone! We have advanced the treatment of cystinosis but we have more work to do!

With 100% of all donations to CRF going directly to cystinosis research, every dollar truly makes a difference! Share this post or donate today to help us created a world without cystinosis! https://ow.ly/awf150StZtV

Bring the latest ✨digital✨ edition of the Cystinosis Magazine with you on your next summer vacation!

That's the beauty of a digital issue, you can easily carry it wherever you go - on the beach, in the air, to a doctor's appt - right in the palm of your hand!

Read the Summer edition now, full of inspirational family stories, research updates, event recaps and more:
https://ow.ly/CHq950StYWN

CRF Research: Turning Hope into Action

Researchers Francesco Emma, MD, and Anna Taranta, PhD, received a grant in 2022 for a study entitled “Impact of Diet Composition on Renal Function and Bone Disease of Ctns⁻/⁻ Mice.” The aim of their project is to define which dietary components are essential to develop a severe disease in mice, in order to test better potential treatments and to understand what dietary components cause damage to tissues, which could pave the way for developing new therapeutic approaches in the future.

Read their most recent progress report here: https://ow.ly/8Ijo50StZ15

Cystinosis Research Foundation CRF's mission is to support bench, clinical and translational cystinosis research to find better tre

This , we reflect on one of our country's most iconic ideals - bravery.

In the face of adversity, uncertainty, endless treatments, countless procedures and uncharted territories, our cystinosis community stands tall.

By the time our children with cystinosis are 10 years old, they have already endured more than most adults have in their entire lives, and most of the time with smiles on their faces and hope in their hearts.

from your CRF community, where we're proud to be the !

"While we wait for the cure that is hopefully coming soon, you will find us trusting God's plan, living life to the fullest, clinging to the joy and showing Stella she can do anything...even change the world with all the light she brings to it," - Nick and Karalee Zimmerman, Stella Sol's parents.

And how brightly she shines indeed! Thank you, Zimmerman family, for sharing your story with our community. Together, we truly shine bright!

"It feels like it was yesterday that we would lay on the floor every six hours trying to get Henry to drink a bottle filled with juice and cystagon. I don’t miss putting him through that, but I do miss those times together.

While I look back at the past 17 years, I’m so proud of the man Henry is becoming and his desire to try new things, whether it be management of his health, new tricks on his surfboard or his work ethic at school." - Brian, Henry’s dad.

What a difference 17 short years can make. Thank you, Sturgis family, for sharing your story and for your unwavering commitment to CRF!

"I remember the first time I held you. Because you were a little bit early, we learned about skin-to-skin time to help you overcome some early challenges for your little body. I will never forget how my love for you blossomed during those days.

I am writing this letter to you because Gramps and I want you to know that you are part of a large community that believes in you. You are a blessing to those who know you, and will continue to shine a special light wherever you are." - Sherry Taylor, Seth DeBruyn's grandma

Let's hear it for all our CRF grandparents out there! Your care and support mean more than you know!

Check your mailbox - scratch that - check your INBOX for the first-ever, fully digital edition of Cystinosis Magazine in our effort to reduce waste and go green!

This special, online edition is chock-full of inspirational family stories, research updates, event recaps, important dates and more!

Click the link below to read it now and share it with all of your family and friends!

https://www.cystinosisresearch.org/cystinosis-magazine/

"The support of the CRF has been critical to maintain the rat colony during this long procedure, which is now well advanced,” says Dr. Olivier Devuyst.

CRF is honored to support Dr. Devuyst’s CTNS rat colony in Zurich. CTNS rats are excellent and helpful animal models that can be used for drug development and testing new treatments. Now, Dr. Devuyst is sharing his rat strain with centers in Japan and in the United States. Sharing ideas and information and collaborating with other research centers will accelerate cystinosis research.

Read more about Dr. Devuyst's work here: https://ow.ly/TJLU50Snp4x

You can be strong, hopeful, kind, caring, powerful - and at the same time - not ALWAYS be okay.

Frustration, fear, disappointment, anger, sadness - these are all natural and healthy emotional reactions to living with a chronic, debilitating disease like cystinosis.

One way or another, negative emotions find their way to the surface. Allowing yourself to feel these feelings rather than suppress them will help give that feeling the attention it demands, so you can move on to better, more positive feelings in the future!

The first-ever, fully digital edition of the Cystinosis Magazine is coming soon! Don't miss it - sign up today to receive it in your inbox this summer: https://ow.ly/Vncp50S96C3

With deforestation continuing to destroy ecosystems across the planet, every effort – big and small – can help make a difference. As a foundation dedicated to making the world a better, healthier place, we are excited to officially bring Cystinosis Magazine into the digital space and do our part for the environment.

Plus, you’ll enjoy the convenience of having our magazine available at your fingertips, whenever and wherever you are! Sign up today!

"Before her 12th birthday, Natalie made a birthday wish, 'to have my disease go away forever.' That wish changed our lives. The day Natalie made her wish Jeff and I decided to raise money for research.

By the end of that year, we had amassed over $350,000 for research. Today, CRF has raised $70 million, and our pledge has been to underwrite all the expenses and operations of the foundation so that 100% of donations go directly to research." - Nancy Stack, President of CRF.

What started as a wish has grown into so much more - a community, a research powerhouse, a movement. Together, we shine bright!

Cystinosis Research Foundation CRF's mission is to support bench, clinical and translational cystinosis research to find better tre

Stem Cell & Gene Therapy Trial Update!

All patients in Dr. Cherqui's stem cell trial are doing well and are participating in a 15-year observational study. Novartis will announce the next phase of the clinical trial in the near future. We look forward to the next phase and then to final FDA approval, bringing this life-changing treatment to cystinosis patients all over the world!

Read more about this update from Dr. Cherqui in our upcoming edition of the Cystinosis Magazine! Sign up to receive it today: https://www.cystinosisresearch.org/cystinosis-magazine-sign-up/

Today is , an observance dedicated to raising awareness for issues children face and encouraging fierce advocacy on their behalf.

As parents and caretakers of children with a disease as rare and serious as cystinosis, we are their voice, their representatives, their protectors. Where they are unable to advocate for themselves, we must be their shield. Asking the difficult questions, being the skeptic and doing the research make you a cystinosis hero.

So today, here's to the cystinosis heroes! We appreciate all you do for your children!

Though our community may be small, our impact can be felt all over the globe! We come from all over the world and from all walks of life, but come together with passion for finding new treatments and a cure for cystinosis.

Help us spread awareness of our community! Tag us in your photos and use the hashtag so more people can see our community in action, and learn about the work we do for cystinosis research!

Pictured: Seth and Leif deBruyn, Sherry Taylor

Our community never ceases to amaze us! Thank you all for your generous contributions to the 2024 Natalie's Wish Fundraiser - This year, we raised an incredible $1.1 million!

Over the last 21 years, Natalie’s Wish has become bigger than one girl's inspiring wish – it's a community, a support system, a research powerhouse and a movement to create a world without cystinosis. Without each of you, none of this would be possible.

Thank you for your tireless dedication to the cystinosis community and for igniting hope for future generations. Together, we shine bright!

Fundraising Spotlight: Long-time friend and advocate for the Jenna and Patrick’s Foundation of Hope, Shannon Deary-Bell, CEO of Nor-Cal Beverage, once again participated in the 2023 L5 Capital Cup Golf Tournament to raise money for cystinosis research.

The three-day competition challenged 32 of Sacramento’s most prominent CEOs to compete in a Ryder Cup to raise funds for charity. This was the seventh time Shannon has played in honor of Jenna and Patrick, this year raising $62,000! The Partington family and CRF are honored and grateful to the Sacramento community for their generous support of cystinosis research!

Together, we are creating a brighter future for everyone with cystinosis!

You have the power to help create better treatments for cystinosis! Join the Registry today to help our researchers better understand this disease.

“The data collected by this questionnaire will be critical in advancing our understanding of the disease progression, which will be particularly of importance to evaluate new therapeutic interventions for cystinosis such the stem cell gene therapy approach.” – Dr. Stephanie Cherqui

Join the 171 other families from around the world and enroll in the patient registry today: https://ow.ly/wL4r50RvgvC

"As a community, we have become so strong and hopeful. The cystinosis community truly is a strong threshold in the face of cystinosis. Hearing other people’s struggles with the same disease you have gives you the strength to continue," - Tina Flerchinger.

Thank you, Tina, for sharing such inspiring words with us. Your strength in the face of cystinosis gives us - and the entire CRF community - hope for the future!

Cystinosis Research Foundation CRF's mission is to support bench, clinical and translational cystinosis research to find better tre

PROGRESS REPORT BY Dr. Laforêt, MD, PhD, Raymond Poincaré University Hospital, Garches, France

“Improving characterization of neuromuscular involvement in adults with cystinosis”

The main manifestations of neuromuscular involvement include hand muscle weakness, respiratory insufficiency, and swallowing impairment. However, the long-term consequences and natural history of these symptoms remain an important issue. Dr. Laforêt will explore the neuromuscular complications of cystinosis, focusing on skeletal and respiratory muscle weakness to improve the knowledge of neuromuscular manifestations of cystinosis. This study should improve the care of the patients by leading to a better and more specific management of these complications. This study should also help to identify outcomes measures which could be used in future clinical trials to assess the response of skeletal muscles to innovative therapies.

Learn more: https://ow.ly/E19i50RvgRX

"The girls were faced with watching their grandma who was always active not being able to do any of the things she loved anymore. Instead of grandma helping take care of them, they helped me take care of her. Through this experience, I have watched my daughters develop a new understanding of what it means to love unconditionally and to live selflessly. Life with cystinosis has already taught us many of these lessons, but as they matured it was more apparent."

Thank you, Alexander family, for sharing the powerful legacy of your late mother and grandmother. Today, we are thankful for all our mothers, who care for us, love us unconditionally, and make the world a brighter place.

Happy from your friends at CRF!

Today we're shining a light on one of our CRF Stars, Dr. Lauren Albrecht, University of California, Irvine!

Dr. Albrecht is researching lysosomes in affected cystinosis cells, which have higher protein methylation levels that current treatments can't fix. This discovery suggests a new treatment target. Additionally, the increased methylation is linked to higher nitric oxide synthase activity, causing disruptions in cell metabolism.

Dr. Albrecht's commitment to understanding these processes could lead to new treatments for cystinosis!

Did You Know: You can subscribe to CRF's "Star Facts," an exclusive e-newsletter designed specifically for CRF families, complete with all the latest community news, research updates and family fundraisers!

And it's so easy to do - just click the link below and provide your email to get in the loop today!

https://ow.ly/fG2B50Rvfzt

"In order to cure cystinosis, you need to fix the gene. One potential way to do this is genemediated autologous stem cell transplantation. Blood stem cells are removed from a person with cystinosis and genetically modified using a virus to insert the correct cystinosin gene into the cells’ DNA. These stem cells are then transplanted back into the person with cystinosis," writes Stephen Jenkins, MD.

Thank you, Stephen, for giving this fascinating presentation about the building blocks of cystinosis - knowledge isn't just power, it's hope!

Read Stephen's presenter abstract and watch his presentation: https://ow.ly/HX6h50RvfsV

Cystinosis Research Foundation CRF's mission is to support bench, clinical and translational cystinosis research to find better tre

Today marks the grand finale of Natalie's Wish month-long fundraiser! Let's finish strong and show what a powerful impact we, our small but mighty community, can make on the world!

"CRF was started by our family, but today we are clearly not alone. We are surrounded by this extraordinary community of families and friends around the world who have one purpose – to support those they know and love with cystinosis. We have soared to new heights; we have given hope to families and patients. The goodness that you have exhibited is another ripple in the cystinosis world, touching lives and ensuring hope is never far from our minds and hearts. We have experienced a life of gratitude, community and purpose because of you." - Nancy Stack.

Donate today: https://ow.ly/UBR650RmuuX

You have the power to help create better treatments for cystinosis! Join the Registry today to help our researchers better understand this disease.

“The data collected by this questionnaire will be critical in advancing our understanding of the disease progression, which will be particularly of importance to evaluate new therapeutic interventions for cystinosis such the stem cell gene therapy approach.” – Dr. Stephanie Cherqui

Join the 171 other families from around the world and enroll in the patient registry today: https://ow.ly/2Z9L50RmsKT