The Rare Disease Treatment Approval Process: Balancing Gold Standard Evidence with Patient-Centered Flexibility

Title: Advancing Adult Leadership in Cystinosis Advocacy and Support Abstract: Cystinosis is a rare metabolic disease that causes the amino acid, cystine, to accumulate throughout the body. The disease affects every cell in the body, with particular impact on kidneys, eyes, and muscles. It is now typically diagnosed in early childhood. Thus, diagnosed patients have been aware of their illness from as early as they can remember. Earlier diagnosis and improved treatments over the last 35 years including kidney transplant, immunosuppression drugs, and cysteamine treatments have extended the lifespans of individuals with Cystinosis from adolescence well into adulthood.(Doyle & Werner-Lin, 2015; Nesterova & Gahl, 2013) A clinical trial of gene therapy for Cystinosis is now in progress (CITE). In the past, individuals with Cystinosis often died in childhood or adolescence. There is now a generation of Cystinosis patients who are surviving and thriving into adulthood, yet still face many challenges including disease progression and complications, and the impact of the disease and its treatments on their daily lives and decision-making. Advocacy for support, improved treatments, and ongoing research has until now been the task of caregivers. Adults with Cystinosis are now taking an active role in advocacy for themselves and for their community. Cystinosis is a rare metabolic disease that causes the amino acid, cystine, to accumulate throughout the body. The disease affects every cell in the body, with particular impact on kidneys, eyes, and muscles. It is now typically diagnosed in early childhood. Thus, diagnosed patients have been aware of their illness from as early as they can remember. Earlier diagnosis and improved treatments over the last 35 years including kidney transplant, immunosuppression drugs, and cysteamine treatments have extended the lifespans of individuals with Cystinosis from adolescence well into adulthood.(Doyle & Werner-Lin, 2015; Nesterova & Gahl, 2013) A clinical trial of gene therapy for Cystinosis is now in progress (CITE). In the past, individuals with Cystinosis often died in childhood or adolescence. There is now a generation of Cystinosis patients who are surviving and thriving into adulthood, yet still face many challenges including disease progression and complications, and the impact of the disease and its treatments on their daily lives and decision-making. Advocacy for support, improved treatments, and ongoing research has until now been the task of caregivers. Adults with Cystinosis are now taking an active role in advocacy for themselves and for their community.