We are thrilled to share news about the next phase of the stem cell and gene therapy trial. This phase of the trial will bring us closer to a cure for all children and adults with cystinosis. The CYStem Phase I/II clinical trial is open to children aged 2 to 5 years with nephropathic cystinosis […]
Good news if you take Cystadrops or if you are considering taking them! They have improved the eye dropper. Here is information from Recordati about the new dropper. Recordati Rare Diseases is excited to introduce the CystaTouchTM Comfort Dropper for use with CYSTADROPS® (cysteamine ophthalmic solution) 37%. The redesigned dropper was developed to make it
Recordati Rare Diseases Announces CystaTouchTM Comfort Dropper Read More »
One very important area of cystinosis research is understanding renal Fanconi syndrome in cystinosis. Dr. Stéphanie Cherqui is working on unraveling the molecular mechanism of Fanconi syndrome to advance our understanding of the cause of renal Fanconi syndrome. The studies are conducted in vitro in yeast and human kidney cell models and in vivo in the Ctns-/-mice.
Progress Report – Advancing the Understanding of Renal Fanconi Syndrome in Cystinosis Read More »
Our community might be small in numbers, but our determination to cure cystinosis is unstoppable! We have more work to do, and with your help, we will find better treatments and a cure for cystinosis. Although we are rare, we dare to do the remarkable. Approximately 7,000 rare diseases affect over 30 million people in
Join CRF on Rare Disease Day February 28, 2025 and Celebrate Our Research Progress! Read More »
Dr. Reza Seyedsadjadi is looking for participants to volunteer for an interventional study to characterize the mechanism of muscular involvement in swallowing in patients with cystinosis who are experiencing myopathy. If you are between the ages of 16 years old and 70 years old, if you have nephropathic cystinosis and distal myopathy, and meet the
Clinical Trial Now Recruiting Nephropathic Cystinosis and Distal Myopathy Patients! Read More »
Final Research Grant Report Olivier Devuyst, MD, PhD, Principal Investigator, and Marine Berquez, PhD, Co-Principal Investigator, University of Zurich, Switzerland Role of Nutrient Sensing and mTORC1 Signaling in Cystinosis Cystinosis is a lysosomal storage disease caused by loss-of-function mutations in the CTNS gene coding for the proton-driven transporter cystinosin (CTNS) that exports cystine out of
October 24, 2024 Dear Cystinosis Community, We hope that you are enjoying the fall. The Novartis teams have been hard at work collaborating with the cystinosis community, cystinosis patient advocacy groups, cystinosis experts and health authorities to move the program forward since the Novartis acquisition of the investigational autologous hematopoietic stem cell (HSC) gene therapy
Novartis Statement to the Cystinosis Community Read More »
For those of you who attended the Day of Hope this year, we introduced you to Dr. Donny Suh from UC Irvine. He is an expert on ocular cystinosis. He held an eye clinic at the family conference and thanks to you examined 36 patients with cystinosis. We are excited that he will be joining
Stéphanie Cherqui, PhD, Principal Investigator, University of California, San Diego “Advancing the Understanding of Renal Fanconi Syndrome in Cystinosis” Over the last few years, CRF has awarded $656,485 in research grants to Dr. Cherqui for this important study to better understand how cystinosis affects the kidneys. Even though cystinosin, the protein involved in cystinosis, is
Jennifer Hollywood, PhD, University College Cork, Ireland, and Alan Davidson, PhD, University of Auckland, New Zealand Drs. Hollywood and Davidson are using rodent models to test a better variant of cysteamine and to find alternative therapies that target other pathways to improve the lives of patients with cystinosis. Since 2020, CRF has awarded $430,422 to
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