Acute LHON Clinical Trial
Official title:
Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months
Efficacy Study of Gene Therapy for The Treatment of Acute Leber's Hereditary Optic Neuropathy (LHON) onset within three months
Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited ocular disorder
associated with a mutation in mtDNA .The disease is a common cause of teenaged blindness in
both eyes for which there is currently no effective treatment.
In 2008, the investigators recognized that gene therapy for LHON could be performed not only
theoretically but technically. The investigators have been carring out a series of basic and
clinical studies from constructing the vectors to identifying and mitigating safety issues .
After performing several animal experiments, the investigators had moved into clinical
trials. In 2011, the investigators performed the first LHON gene therapy trial in the world,
which was registered in December 2010 at ClinicalTrials.gov (Registration number: CT01267422)
and was a preliminary study to verify the safety and efficacy of gene therapy for LHON . In
the 36-month follow-up, the investigators found that six out of nine patients have vision
improvement obviously and no adverse events were observed.
This is a multi - center , prospective study of 120 patients with the G11778A mutation in
Mt-DNA.This clinical trial recruited 20 patients with the 11778 mutation of MT-DNA onset
within three months,20 between 3 to 6 months,20 between 6 to 12 months,20 between 12 to 24
months,20 between 24 to 60 months,and 20 over 60 months.. All patients will be treated with a
Single vitreous cavity injection of recombinant Adeno-Associated Virus-NADH dehydrogenase,
subunit 4 (complex I)（rAAV2-ND4)（0.05ml), with dose 1 × 10^10 vg/0.05 mL .The eye of
treatment is up to the time of onset.
The visual acuity, visual field,visual evoked potential （VEP）,optical coherence tomography（
OCT）, electroretinograms(ERG), retinal nerve fiber layer(RNFL)and Liver and kidney function
in plasma were compared after treatment at 1,2,3,6and 12 months interval.
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