Novartis Stem Cell Clinical Trial is Open at Stanford University for Cohort 1!
The Novartis CYStem Clinical Trial is Open at Stanford University for Cohort 1! This is another milestone, another giant step forward for our small community. We have worked together, stayed united in our effort to find a cure and we have driven the research to ensure that this day would be a reality for our […]
Dr. Feng Progress Report: “Probing Protein Mutagenesis and Modulation in Cystinosis.”
Liang Feng, PhD, Associate Professor, Molecular and Cellular Physiology, Stanford University In this study, Dr. Liang Feng and his team want to gain a more detailed understanding of how genetic mutations involved in cystinosis affect the disease at a molecular level (e.g., how the mutations change the function or behavior of proteins or cells). They also […]
Progress Report by Maren Leifheit-Nestler, Hannover Medical School, Germany
Research Grant: Maren Leifheit-Nestler, PhD, Principal Investigator, and Malgorzata Szaroszyk, PhD, Co-Principal Investigator “Cystinosis-Associated Myopathy: Impact of Musclin Gene Therapy and Exercise.” This study investigates the role of the myokine musclin (encoded by OSTN) in cystinosis-associated myopathy, a common complication in patients with nephropathic cystinosis. Key Findings: Musclin levels are reduced in the skeletal muscles […]
Dr. Devuyst and Dr. Emma Complete ‘Maintenance of a Rat Colony’ Study
CRF-funded researchers, Dr. Olivier Devuyst and Dr. Francesco Emma, successfully completed their study, “Maintenance of a rat colony.” Thanks to their work, a rat strain is now available to all researchers through two major resource centers. The rat colony has already played a crucial role in several studies evaluating novel therapeutic strategies. CRF’s support of […]
Novartis CYStem Stem Cell and Gene Therapy Trial Is Moving Forward and Recruiting!
The Novartis stem cell trial is moving forward! We are excited to inform you that one arm of the Novartis CYStem stem cell and gene therapy trial is officially recruiting! This arm of the study is for Cohort 0 which is the group of patients that will NOT be treated with the stem cells. Cohort […]
Community Update: Novartis CYStem Phase I/II Clinical Trial in Cystinosis Posted on ClinicalTrials.gov
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 […]
Recordati Rare Diseases Announces CystaTouchTM Comfort Dropper
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 […]
Progress Report – Advancing the Understanding of Renal Fanconi Syndrome in Cystinosis
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. […]
Join CRF on Rare Disease Day February 28, 2025 and Celebrate Our Research Progress!
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 […]
Clinical Trial Now Recruiting Nephropathic Cystinosis and Distal Myopathy Patients!
Reza Seyedsadjadi, MD Assistant Professor of Neurology Harvard Medical School 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 and 70 years old, if you have […]
