# Gene therapy for preserving the visual system in lysosomal storage diseases

> **NIH NIH R01** · UNIVERSITY OF MISSOURI-COLUMBIA · 2024 · $382,470

## Abstract

PROJECT SUMMARY
The primary objective of the proposed research is to evaluate the safety and efficacy of AAV-
mediated gene therapy for preventing the progressive retinal and central nervous system (CNS)
degeneration in a canine model of CLN2 neuronal ceroid lipofuscinosis (NCL), particularly as they
relate to functional vision. CLN2 disease results from deficiency of the soluble lysosomal enzyme
tripeptidyl peptidase-1 (TPP1) caused by mutations in TPP1. Dachshunds with a null mutation in
TPP1 were used in preclinical studies that supported development of CNS enzyme replacement
therapy (ERT) that has been successful in preserving neurological function in affected children.
Unfortunately, this treatment does not prevent retinal degeneration or the resulting blindness in
CLN2 disease. In addition, ERT treatments require long clinic-bases intracerebroventricular
injections every other week for life. Using the dog model, studies will be conducted to test the
hypothesis that combined one-time intravitreal and intra-cerebrospinal fluid administration of AAV-
TPP1 gene therapy vectors will prevent retinal degeneration and degeneration of the visual centers
of the CNS and preserve functional vision, setting the stage for testing this treatment in children
with CLN2 disease.

## Key facts

- **NIH application ID:** 10808201
- **Project number:** 5R01EY031674-04
- **Recipient organization:** UNIVERSITY OF MISSOURI-COLUMBIA
- **Principal Investigator:** MARTIN L KATZ
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $382,470
- **Award type:** 5
- **Project period:** 2021-05-01 → 2026-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10808201

## Citation

> US National Institutes of Health, RePORTER application 10808201, Gene therapy for preserving the visual system in lysosomal storage diseases (5R01EY031674-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10808201. Licensed CC0.

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