Next UCSD Cystinosis Clinic to be held February 1

The next multidisciplinary clinic for cystinosis patients (all ages accepted) will be held at UCSD Rady Children's Hospital outpatient clinic on Monday, February 1, 2016, in Suite 200 at 7910 Frost Street. To schedule appointments, patients should call Crystal at 619-543-7800. The physicians and specialists at the University of California San Diego have started a multi-specialty Cystinosis Clinic, including, among other specialists, Dr. Bruce Barshop and Dr. AnnetteFeigenbaum (Biochemical Genetics), Dr. Nadine Benador (Nephrology), Dr. Ranjan Dohil (Gastroenterology), Dr. Doris Trauner (Neurology), Dr. Ron Newfield (Endocrinology), Dr. David Granet (Ophthalmology), and Dr. Stephanie Cherqui (Laboratory Scientist). The clinics will be held on Monday mornings (every 3 months at present), at the UCSD/Rady Children’s Hospital Medical/Research Offices at 7910 Frost Street, San Diego. If you are interested, please contact Denise Young, RN, at 858-576-1700 X4642, or send email to This email address is being protected from spambots. You need JavaScript enabled to view it. or to This email address is being protected from spambots. You need JavaScript enabled to view it.. We will require information ahead of time, for insurance authorization to be arranged and for arrangements for medical records to be released and forwarded.

2015 Fall/Winter Newsletter Released

The CRN 2015 Fall/Winter edition of the newsletter, The Cystinosis Advocate, is available now. Please go to the News/Newsletter link to view it.

Watch the 2015 Family Conference/Dream, Achieve, Inspire Art Exhibit Video

Cystinosis Research Network releases a new video from the 2015 Family Conference. Click here to watch!

Contact: Christy Greeley
Executive Director
Phone: 847-204-6004
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Art Exhibit Created in Memory of Man with Rare Disease Art Traveling World to Raise Awareness

Lake Forest, IL – October 5, 2015 – The Cystinosis Research Network (CRN), a 501(c)(3) charitable organization, is using broad strokes to raise awareness for cystinosis, a rare, genetic-metabolic disease. Katie Larimore, mom to a 10-year-old daughter with cystinosis, was motivated by Billy Croce, an artist and young man with cystinosis. She says, “[Billy] convinced me… if I could dream of a healthy, full life for my daughter, I could achieve it. And perhaps, I was meant to inspire other people.” Billy passed away earlier this year. In memory of his life and those continuing to fight the disease, an art collection was born.

billy croce
The "Dream, Achieve, Inspire" art exhibit was created in memory of Billy Croce (above) and individuals living with cystinosis across the world.

The exhibit titled: “Dream, Achieve, Inspire,” showcases art from 107 artists living with cystinosis from 30 countries. The collection was unveiled at the Chicago CRN Family Conference in July to the largest attendance in conference history. To keep the momentum going and elevate global awareness, the exhibit will be hosted by cystinosis advocacy groups in Brazil, Europe, and Mexico throughout the next year.

This video provides a glimpse of the artwork and commentary from some of the artists: click here to view video.

The CRN encourages sharing the link with hashtag #CystinosisAware

Cystinosis is a rare, genetic, metabolic disease impacting approximately 2,000 people worldwide. Cystinosis causes an amino acid, cystine, to accumulate in the kidneys, eyes, liver, muscles, pancreas, brain, and white blood cells. Without treatment, children with cystinosis can develop end stage kidney failure at approximately age nine. This disease has devastating outcomes when untreated. The CRN is comprised of family, friends, and medical researchers dedicated to finding a cure, developing treatments, and enhancing the quality of life for those affected by cystinosis.


For more information, contact Christy Greeley at This email address is being protected from spambots. You need JavaScript enabled to view it. or 847-204-6004 or Katie Larimore at This email address is being protected from spambots. You need JavaScript enabled to view it. or 803-873-2139. Follow up interviews available. You can find the CRN at, on Facebook at, Twitter @CystinosisCRN, and Instagram @CystinosisResearchNetwork.

CRN Announces 2016 Research Grant Awardees

CRN has funded three new research projects for 2016 as a result of its recent call for proposals. These grants represent nearly a quarter of a million dollars in new research funding. Read more about them by clicking here.

Cystinosis Transition Management Tool Now Available

CRN is proud to announce the publication of this user friendly concise tool with management guidelines. It was developed by pediatric and adult providers with experience in the care of patients with Cystinosis to assist physicians less experienced in this rare disease to improve transition of care. You can access the guide from our article library or download it directly by clicking here.

Raptor Pharmaceutical Receives FDA Approval of Expanded Label for PROCYSBI® to Treat Children Aged 2-6 Years with Nephropathic Cystinosis

NOVATO, Calif., August 17, 2015 – Raptor Pharmaceutical Corp. (NASDAQ: RPTP) today announced that the U.S. Food and Drug Administration (FDA) approved the expanded use of PROCYSBI® (cysteamine bitartrate) delayed-release capsules to treat children two to six years of age with nephropathic cystinosis. The approved supplement was based on efficacy and safety data from an ongoing long-term extension study in which a cohort of children aged 2 to 6 years were enrolled and treated with PROCYSBI for 12 months. Additionally, data submitted as part of this supplement supported the longterm maintenance of white blood cell cystine levels and renal function in all age groups studied during extended treatment with PROCYSBI. PROCYSBI is now approved for the treatment of nephropathic cystinosis in adult and in pediatric patients 2 years of age and older in the U.S. Please see the full prescribing information at

“Strict adherence to cystine depleting therapy from as early an age as possible is critical to maintaining kidney function and leading longer, healthier lives for patients with cystinosis,” said Craig Langman, M.D., The Isaac A. Abt, M.D. Professor of Kidney Diseases, Feinberg School of Medicine and Head of Kidney Diseases at Ann & Robert H. Lurie Children's Hospital of Chicago and the lead investigator on the extension trial. “The data in the two to six year old group confirm the maintenance of stable kidney function over time. Not only will this help these young patients with cystinosis, but the 12 hour dosing schedule for PROCYSBI could be a significant benefit to the caregivers of these young children.”

“We are extremely pleased that younger patients and families living with cystinosis will now have access to PROCYSBI,” said Krishna Polu, M.D., Chief Medical Officer of Raptor. “We appreciate the support of the cystinosis community, families, caregivers, and patients who participated in the trials that led to the initial and expanded approval of PROCYSBI. We remain committed to advancing the science and understanding of cystinosis to help patients and caregivers take more control of their lives.” "Caregivers of younger individuals with cystinosis will now have another treatment option to discuss with their medical professional teams,” stated Jeff Larimore, President of the Cystinosis Research Network. “Every opportunity provided to improve treatment adherence is applauded by the cystinosis community.”

PROCYSBI was initially approved in 2013. Physicians can prescribe PROCYSBI by calling RaptorCares at 1-855-888-4004. RaptorCares provides individualized services to help patients access PROCYSBI through education, support, extensive case management and a commitment to the principle that no eligible U.S. patient with nephropathic cystinosis will be denied access to PROCYSBI based on inability to pay.

About Nephropathic Cystinosis
Nephropathic cystinosis comprises 95% of diagnosed cases of cystinosis, a rare, life-threatening metabolic lysosomal storage disorder that causes toxic accumulation of cystine in all cells, tissues, and organs in the body. Elevated cystine leads to progressive, irreversible tissue damage and multi-organ failure, including kidney failure, blindness, muscle wasting and premature death. Nephropathic cystinosis is typically diagnosed in infancy and requires lifelong therapy.

Strict adherence to therapy is crucial to improve outcomes, as even brief delays in cysteamine dosing may allow cystine to return to toxic levels. Left untreated, the disease is usually fatal by the end of the first decade of life. There are an estimated 500 patients living in the United States with cystinosis, and 2,000 worldwide.

About PROCYSBI® (cysteamine bitartrate) delayed-release capsules PROCYSBI is the first cystine depleting agent that can be given every 12 hours that is approved in the U.S. for the management of nephropathic cystinosis in adults and children 2 years of age and older. It is contraindicated in patients with a hypersensitivity to cysteamine or penicillamine. The most commonly reported side effects are vomiting, nausea, abdominal pain, breath odor, diarrhea, skin odor, fatigue, rash, and headache. For additional information on PROCYSBI, including full prescribing information, please visit

About Raptor Pharmaceutical
Raptor Pharmaceutical Corp. is a global biopharmaceutical company focused on the development and commercialization of life-altering therapeutics that treat rare, debilitating and often fatal diseases. The company is engaged in multiple therapeutic areas such as nephropathic cystinosis, Huntington's disease (HD), pediatric nonalcoholic steatohepatitis (NASH), and mitochondrial diseases including Leigh syndrome. Raptor holds several orphan drug designations, including orphan drug exclusivity for nephropathic cystinosis in the U.S. and EU, and orphan drug designation for HD in the U.S. and EU. Raptor holds intellectual property for the use of cysteamine in HD and other neurodegenerative disorders including Parkinson's disease and Rett syndrome. For additional information, please visit

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