Stephanie Cherqui, PhD, from the University of California, San Diego shares her insights into our current misunderstandings of cystinosis.
Cystinosis is a rare lysosomal storage disorder due to mutations in the CTNS gene that leads to the accumulation of cystine in the body. Organs most often affected are kidneys, eyes, muscles, pancreas, and brain.
As Dr. Cherqui explains in this video, current treatment options (e.g., cysteamine) are not curative for cystinosis and the disease can still progress, even if the person is compliant. To that end, newer treatments are needed, such as the hematopoietic stem cell gene therapy Dr. Cherqui is investigating.
To stay informed about this and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/