cystinosis.patientcrossroads.orgCure Cystinosis International Registry

Search Home Your Participation About Us Contact Us Publications CCIR World Map Clinical Trials Skip to content Explore and Learn Learn more about the cause of Cystinosis, genetics and genetic testing, carrier status, and care and management for you or your family member. Understand Clinical Trials Learn more about ongoing and upcoming clinical trials, the clinical trial process, and what is involved in participating in a clinical trial. Explore and Learn Learn more about the cause of Cystinosis, genetics and genetic testing, carrier status, and care and management for you or your family member. Are you a Professional? Access the Professional Portal to access current treatment/genetic testing data, perform assisted searches for study/trial development, and access educational materials. More... 01 Explore and Learn 02 Understand Clinical Trials 03 Explore and Learn 04 Are you a Professional? Pause Frontpage Slideshow (version 2.0.0) - Copyright © 2006-2008 by JoomlaWorks Register Now! Registration Overview Cystinosis is an "orphan" disease with about 500 people - mostly children - stricken with the disease in the United States and approximately 2,000 worldwide. Cystinosis is a metabolic disease in which the amino acid cystine accumulates within the cells. The cystine slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and the brain. With such a rare disease affecting such a small population, research money is scarce to nonexistent. Yet research on complicated diseases like cystinosis often leads to advancements in other rare diseases. As proteins are degraded within the lysosomes of cells, the individual amino acids that make up the proteins are transported from the lysosome to the cell’s cytoplasm via specific transporters. The transporter for cystine is defective in children with cystinosis and this defect causes the cystine to accumulate within tissue. The cystine content of the cell is 50-100 times the normal value. Cystinosis is an autosomal recessive genetic disease. This means that both parents are carriers of the abnormal gene that leads to this condition. The parents do not exhibit any of the symptoms of cystinosis. In such couples, the odds are that one-in-four of their children will have cystinosis. The gene for cystinosis, CTNS, was mapped to chromosome 17p13. Professionals - Visit the Research Portal English Français Español Português (Brasil) Nederlands Login Username Password Forgot login? Professional Research Portal CCIR Partners Additional clinical trials can be found at ClinicalTrials.gov Newsflash The NEW & IMPROVED cystinosis survey. Complete it today! There is always room for improvement and cystinosis experts felt that additional CCIR survey questions could help address gaps in our knowledge about the disease. This knowledge will be instrumental i... CYSTARAN for treatment of corneal cystine accumulation now available CYSTARAN, the first and only FDA approved therapy for the treatment of corneal cystine accumulation in patients with cystinosis, is now available. The CYSTARAN hotline (1-800-440-0473) is available to... PROCYSBI Receives FDA Approval in the U.S. CCIR is pleased to share with you breaking news from Raptor Pharmaceutical regarding U.S. FDA approval of the drug PROCYSBI. This is a delayed release formulation of cysteamine bitratrate for the trea... Research Study of Bone Marrow Transplant for Patients with Cystinosis from Matched Related Donor A research study is being done by physicians at the Ronald Reagan UCLA Medical Center in Los Angeles to determine if blood stem cell transplants, with bone marrow from matched related donors, are an e... CCIR Supporters Cystinose France Top Copyright © 2019 PatientCrossroads , Inc. / AltaVoice , all rights reserved. Terms and Conditions | Privacy Policy...