# Biostatistics Center for Lebers Hereditary Optic Neuropathy (LHON): Gene Therapy Clinical Trial

> **NIH NIH UG1** · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · 2021 · $118,671

## Abstract

The Biostatistics Center (BC) for Leber's Hereditary Optic Neuropathy (LHON): Gene Therapy
Clinical Trial will continue its collaboration with Dr. John Guy, escalating to higher doses of the
AAV-ND4 gene therapy investigational product (IP) in this Phase 1 clinical trial. LHON is a
maternally inherited blinding disease of mitochondrial DNA (G11778A mutation in the ND4
gene). Dr. Guy has developed a method for allotopic expression, which is a procedure to
introduce a “nuclear version” of this mitochondrial gene and to then target the cytoplasmically
synthesized protein to the mitochondria with a mitochondrial targeting sequence. The LHON
Gene Therapy Clinical Trial is a Phase 1 clinical trial to evaluate the safety of an open-label,
unilateral, single-dose of intravitreal injection of adenoassociated viral vector (AAV-ND4) LHON
patients. The BC provides biostatistical and coordinating center support for the study.
The BC investigators are an experienced team, who have been involved with ophthalmological
clinical trials since 1985 and collaborated with Dr. Guy on a prospective funded natural history
study of a cohort of LHON families, which included affected patients and carriers. In the
previous funding cycle of this Phase I dose escalation trial, the BC played a critical role in
initiating the trial and ensuring compliant enrollment and post injection follow up of 19 patients,
18 of which demonstrated safety of the low and medium dose AAV-ND4 IP. It is also
responsible for data quality, management, and entry into the 21 CRF part 11 compliant
database. This effort led to the publication of two reports in the peer-reviewed ophthalmology
literature.
The study team now proposes to employ its procedures, developed, implemented, and proven
for the low and medium doses, to escalation of higher doses

## Key facts

- **NIH application ID:** 10162602
- **Project number:** 5UG1EY024247-08
- **Recipient organization:** UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- **Principal Investigator:** William Jack Feuer
- **Activity code:** UG1 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $118,671
- **Award type:** 5
- **Project period:** 2014-04-01 → 2023-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10162602

## Citation

> US National Institutes of Health, RePORTER application 10162602, Biostatistics Center for Lebers Hereditary Optic Neuropathy (LHON): Gene Therapy Clinical Trial (5UG1EY024247-08). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10162602. Licensed CC0.

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