The Cystinosis Research Foundation is honored to share an important and deeply meaningful update from the family of the first child to undergo the stem cell and gene therapy treatment for cystinosis. Their courage, transparency, and willingness to lead the way embody the very heart of our community.
For nearly two decades, CRF has invested in the science that has made this clinical trial possible: funding Dr. Stéphanie Cherqui’s groundbreaking research since 2007, supporting the early adult participants whose bravery paved the way, and standing shoulder‑to‑shoulder with families who have believed in this work from the very beginning. Every donor, every volunteer, every advocate, and every researcher has helped carry this mission forward.
Today, we are witnessing the earliest signs of what our community has worked toward for so long: significant decreases in cystine levels in a child patient with cystinosis. Her journey through this clinical trial has been extraordinarily difficult, and her family’s strength through each step reflects the resilience of every parent who has ever fought for their child’s future.
The update below is shared with profound gratitude and deep respect. It is a testament to the power of science, the dedication of Dr. Cherqui’s medical team, and the unwavering belief of our global cystinosis community. While it is still early, these initial results offer something we have all held onto for years — hope grounded in data, courage, and possibility.
We invite you to read their message, hold this family in your hearts, and join us in celebrating this historic milestone for our community:
“A few months ago, we shared the news that our daughter had become the first child to undergo the stem cell and gene therapy treatment for cystinosis. We wanted to provide an update on her journey so far.
The entire process—from admission, surgery, chemotherapy, transplant, and now recovery—has been incredibly difficult for our daughter and, as parents, equally difficult for us to witness.
Watching her lose her hair and become profoundly neutropenic was heartbreaking. She developed severe mucositis that made it difficult to eat or drink, suffered frequent nosebleeds, persistent nausea and vomiting, significant digestive issues, and completely lost her appetite. Seeing our normally energetic little girl become so physically fragile and dependent on others was, without question, the hardest part of this journey for us as parents.
Thankfully, the most difficult phase of her treatment lasted approximately two weeks. Since then, she has steadily regained her strength, and about three weeks ago she was discharged from the hospital to continue her recovery while remaining in protective isolation at a nearby hotel.
Today, we are incredibly encouraged by her progress.
Her blood counts have recovered exceptionally well and continue to exceed her medical team’s expectations. Even more encouraging, her most recent laboratory testing shows that her cystine levels have decreased by almost a factor of ten.
While it is still far too early to know the long-term outcome of this treatment, these early results are incredibly encouraging and give us hope—not only for our daughter, but for every family affected by cystinosis.
We would once again like to express our deepest gratitude to the extraordinary medical team at Stanford, whose dedication, expertise, and compassion have guided us through every step of this journey. We are equally grateful to our local nephrology team for their unwavering support before, during, and after the transplant.
Finally, we would like to thank the Cystinosis Research Foundation, every donor, every volunteer, every advocate, the Facebook support groups, and everyone who has contributed to making this clinical trial possible. Without your years of dedication and belief in this research, our daughter would never have had this opportunity.
Our thoughts are with the next family beginning this journey, as well as all the families who will follow. We hope these early results offer hope to parents who may have just received a diagnosis, just as others gave us hope when we first began this journey”
Sincerely,
The Family of the First Child Transplant Patient