Zoe Solsby

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

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.

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

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

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

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