CYSTINOSIS RESEARCH FOUNDATION

Cystinosis is a rare, inherited, metabolic disease that is characterized by the abnormal accumulation of the amino acid cystine in each cell. The build-up of cystine in the cells slowly and eventually destroys all major organs of the body including the kidneys, liver, eyes, muscles, bone marrow, thyroid and brain.

Although medication is available to control some of the symptoms of this insidious disease, cystinosis remains incurable.

Cystinosis is known as an orphan disease. An "orphan disease" is defined as a disease that affects less than 200,000 people. Research money for rare diseases is scarce yet there are over 6,000 rare diseases in the United States affecting over 25 million Americans.

SLOW-RELEASE TREATMENT DEVELOPED BY CRF CLINICAL INVESTIGATORS LICENSED BY RAPTOR PHARMACEUTICALS.

The Cystinosis Research Foundation is excited to announce that after five short years of research, a slow release form of medication is becoming a reality for our children.  One of the primary goals of CRF has been to improve the quality of life for all those who suffer from cystinosis.  The existing medicine that keeps our children alive must be taken every six hours of every day, is foul-tasting and causes severe side-effects  This makes it difficult for families to comply with the rigorous dosing schedule.  Our children have never been able to sleep through the night, waking twice to take their medicine.  This new slow release formulation is designed to be taken every 12 hours instead of every 6 and was created to increase compliance and significantly improve quality of life. Today, we are celebrating a milestone to reaching our goal! 

Raptor Pharmaceutical Corp. announced that its clinical development division, Bennu Pharmaceuticals Inc., acquired the rights to license EC Cysteamine the slow release medication.  Clinical trials, funded exclusively by the Cystinosis Research Foundation, resulted in the development of EC Cysteamine created by Dr. Ranjan Dohil and Dr. Jerry Schneider at of California, San Diego (UCSD).   View the press announcement here.

ANNOUNCEMENTS

The First CRF International Cystinosis Research Symposium chaired by Dr. Jerry Schneider and Dr. Ranjan Dohil was attended by researchers and scientists from the United States, France, Germany, England, Italy, Mexico and the Netherlands.  Click to view press release.

First Annual ’Fore A Cure’ Golf Tournament was a tremendous success raising $240,000 for cystinosos research.

VOLUNTEERS NEEDED

Dr. Rita Ceponiene at the University of California, San Diego (UCSD) is looking for volunteers for the Cognitive and Neural Development study currently underway, please click here for information on how to help.