Investigational Gene Therapy (AVR‑RD‑04) for cystinosis receives Orphan Drug Designation from European Commission
AVR-RD-04 consists of patient’s own hematopoietic stem cells, genetically modified to express cystinosin, the protein that is deficient in cystinosis, a rare, progressive disease marked by accumulation of cystine in lysosomes. It is currently being evaluated in a phase 1/2 trial.
Source:
Biospace Inc.
SPS commentary:
The build-up of cystine can cause debilitating symptoms including kidney failure, corneal damage and thyroid dysfunction, often leading to a shortened lifespan. Currently, more than 90% of treated cystinosis patients require a kidney transplant in the second or third decade of life. The current standard of care for cystinosis is cysteamine, a treatment regimen consisting of a heavy daily pill burden, and may not prevent overall disease progression.