• NFS-05 (rAAV2-OPA1)

    For the treatment of ADOA caused by OPA1-mutation

    Current Phase:

    Pre-Clinical Study

    Next Milestone:

    IND Submission

(Autosomal Dominant Optic Atrophy)

ADOA (Autosomal Dominant Optic Atrophy) is the most common Autosomal Dominant hereditary Optic neuropathy, with a global incidence of 1:10000 ~ 1:50000, and about 80% of ADOA is caused by OPA1 gene mutation. The impaired function of OPA1 protein leads to mitochondrial fragmentation and increased instability of the mitochondrial respiratory chain complex, which damages mitochondrial function and ultimately leads to apoptosis of RGC cells and optic nerve atrophy.

The clinical manifestations of the patient were roughly symmetrical and slowly progressing vision loss in both eyes, bilateral temporal lateral optic disc pallor, central visual field defect, and color vision disorder (usually blue-yellow color blindness).The disease is caused by primary degeneration of retinal ganglion cells, accompanied by uplink optic atrophy. This disease mostly occurs in childhood. Vision tends to be stable in patients with mild symptoms until adolescence. Some patients make slow but continuous progress, and also see sudden progressive vision decline. Nearly half of the patients had vision loss worse than 1.0 LogMAR.

Currently, there is no effective treatment for ADOA, which is normally supported by traditional Chinese and western medicine such as improving circulation and nutritional nerve. The mechanism of NFS-05 is that with the gene therapy strategy, the AAV vector carrying the OPA1 gene is injected into the vitreous cavity. The virus infects the RGC cells and expresses the OPA1 protein, thus repairing the mitochondrial function.