Team Sofie

04/10/2025

Attention Cystinosis Families, Patients, and Caregivers! 📝

We need your input to help improve the future of cystinosis treatment! 🌟 A Quality of Life Survey is now available, and your responses will directly impact clinical trials, including one focused on gene therapy for cystinosis.

This survey is a crucial tool in understanding how cystinosis affects daily life and will help shape the development of new treatments. Your voice matters and can make a real difference in advancing care for our community.

👉 Please take a few minutes to fill out the survey.

🔗 https://redcap-survey.fit.uke.de/surveys/

Are you a young person with cystinosis? Use code: PC8NEHPXE. Caregivers? Use code: TRRWXRRPW

Thank you for being a part of this important effort. Together, we can bring more hope and better treatments for those living with cystinosis. 💜

02/29/2024

What if nothing but an overly-narrow definition of efficacy stood between you and a treatment that could save or dramatically transform your life?

Everyone living with a rare disease should have access to treatment. That’s why I joined two other rare moms in writing a letter in the NYT calling on the FDA to adopt a more flexible view of the way outcomes are measured, including quality of life improvements to avoid denying life saving treatments to all of those in need.

The promise of gene therapy has given many of us in the rare disease community reasons to hope. We need the FDA, and pharmaceutical companies like Novartis, to fulfill this promise.

https://www.nytimes.com/2024/02/28/opinion/mothers-children-fda-plea.html?unlocked_article_code=1.ZE0.QZMA.C2K__vpxYlwD&smid=url-share

11/01/2022

Today is the day! We are so excited to formally launch Team Sofie, our family’s initiative to fight for Sofie, research, and a cure for cystinosis.

Join us at teamsofie.org!

Our MissionFighting for Sofie, research, and a cure for cystinosis. Make a donation. 100% of proceeds will go toward medical research thanks to the generosity of the Cystinosis Research Foundation. Donate What is Team Sofie?Team Sofie is a Philadelphia family’s fight to fund research and a cure fo...