In a recently published study, researchers from the University of Iowa have demonstrated a new gene therapy that restored production of CLN3 protein in the stem cell-derived retinal neurons of patients with juvenile neuronal ceroid lipofuscinosis (JNCL) — an inherited neurodegenerative disease that causes early-onset severe central vision loss.
The researchers reportedly developed a gene augmentation method using an adeno-associated virus (AAV2) vector carrying the full-length coding sequence of human CLN3 to deliver the gene to induced pluripotent stem cells (iPSC) derived from patients' fibroblasts. Researchers also demonstrated the safety of AAV2-CLN3 using a mouse model.
Researchers believe their study results serve as proof of principle to support initiation of a clinical trial using AAV-mediated gene augmentation to treat children with CLN3-associated retinal degeneration.
The study was recently published in the journal Human Gene Therapy.
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Source: Mary Ann Liebert, Inc.