July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Gene Therapy for Leber Hereditary Optic NeuropathY An update of Where We Stand (Clinicaltrials.gov number: NCT02161380)
Author Affiliations & Notes
  • John Guy
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • William Feuer
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • Janet L Davis
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • Vittorio Porciatti
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • Philip Gonzalez
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • Rajeshwari D Koilkonda
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • Huijun Yuan
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • Byron L Lam
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • Footnotes
    Commercial Relationships   John Guy, patent (P); William Feuer, None; Janet Davis, allergan (C); Vittorio Porciatti, None; Philip Gonzalez, None; Rajeshwari Koilkonda, None; Huijun Yuan, None; Byron Lam, None
  • Footnotes
    Support  1U10EY023558-01A1
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 3602. doi:
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    • Get Citation

      John Guy, William Feuer, Janet L Davis, Vittorio Porciatti, Philip Gonzalez, Rajeshwari D Koilkonda, Huijun Yuan, Byron L Lam; Gene Therapy for Leber Hereditary Optic NeuropathY An update of Where We Stand (Clinicaltrials.gov number: NCT02161380). Invest. Ophthalmol. Vis. Sci. 2019;60(9):3602.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To update our safety and visual results after a single unilateral, intravitreal injection of low, medium and high dose self-complementary adeno-associated virus serotype 2(scAAV2) containing a wild-type synthetic nuclear encoded ND4 subunit to G11778A Leber hereditary optic neuropathy (LHON) subjects.

Methods : Design/Methods: Dose-escalation study investigating three groups reflecting their stage of LHON: Group I (chronic). Bilateral acuity loss to ≤ 30 ETDRS letters (Snellen = 20/252) in both eyes for more than 12 months. Group II (acute). Bilateral loss to ≤ 30 ETDRS letters in both eyes for less than 12 months. Three patients in each group received a low dose and 3 received a medium dose. Three patients in group I received a high dose. Group III (unilateral). Acute unilateral loss of acuity to <30 ETDRS letters in one eye, but with good acuity ≥ 70 letters in the contralateral eye. Groups I and II, the eye with worse acuity is injected, for group III the eye with better acuity is injected. Titers of vector are as follows:
Low dose =1.18 x 109 vg,
Medium dose =5.81 x 109 vg
High dose =2.4 x 1010 vg
Higher dose= 1.0 x 1011 vg

Participants are monitored through out a three year evaluation period for occurrence of AEs (acute, delayed, and/or cumulative),as well as for changes in clinical status, and visual acuity status. Safety and efficacy assessments are performed on days 1, and 7 post-injection and 1, 2, 3, 6,12,18, 24 and 36 months post-injection.

Results : The visual results (logMAR) of Group I are shown in Table I. Low and medium dose injection patients have been followed for 3 years. High dose patients were recently injected and had much shorter follow-up.

Visual results of group II are shown in Table II. Most completed 2 years of follow-up.

Visual results of group III are shown in Table III. Most completed at least one year of follow-up.

No concerning systemic adverse events were observed. Three eyes developed mild and asymptomatic uveitis that resolved spontaneously without treatment.

Conclusions : Having completed low, medium and high dose escalation injections with 1-3 years of follow-up, we are now ready to recruit patients for injection of the highest dose (1×1011 vg).

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

 

LogMar Acuities of Injected and Fellow eyes- BL= baseline examinations prior to injections

LogMar Acuities of Injected and Fellow eyes- BL= baseline examinations prior to injections

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