BACKGROUND TO CYSTINOSIS AND CYSTINOSIS IRELAND
Cystinosis is an ultra-rare genetic disease, a lysosomal storage disorder, that causes the amino acid cystine to accumulate in the body due to mutations in the CTNS gene.
It is estimated that there are approximately 2,000 people worldwide diagnosed with cystinosis. There are currently a total of 22 confirmed diagnoses of cystinosis in Ireland.
The severest form, infantile nephropathic cystinosis, causes kidney failure before the age of 10 without specific treatment. However, as all organs and muscles are affected in cystinosis, even with treatment, kidney failure usually occurs. Treatment is currently limited to cysteamine a cystine depleting drug which slows but does not cure the progression of the disease. All of those diagnosed in Ireland have infantile nephropathic cystinosis.
Cystinosis Ireland was founded in 2003 as an Irish registered charity. It was created by volunteers – family members and family friends of those living with cystinosis. Its purpose is dedicated to raising money to fund research into cystinosis in Ireland and all over the world.
Cystinosis Ireland works closely with Temple Street Children’s Hospital and Beaumont Hospital in Dublin as well as with the Great Ormond Street Hospital in London. Cystinosis Ireland also maintains partnerships with other cystinosis charities abroad including; The Cystinosis Foundation UK, the Cystinosis Research Foundation (CRF) in Irvine, California, USA, the Cystinosis Research Network (CRN) in Lake Forest, Illinois, US and the Canadian foundation – Cystinosis Awareness Research Effort (CARE). Through these partnerships, we share research findings, discuss drug access programmes, review challenges faced by the greater community and work towards finding a cure. Cystinosis Ireland is also an active member of the Cystinosis Network Europe and EURORDIS, the European rare disease patient group alliance.