Therapies for inherited retinal degeneration

Models for Therapy of Hereditary Retinal Degeneration

NIH-funded research University of Pennsylvania · NIH-11251942

Using gene and cell therapies in dog models to create new treatments for people with inherited retinal diseases like retinitis pigmentosa and Best disease.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionUniversity of Pennsylvania NIH-funded
Lab location1 site (Philadelphia, United States)
Project IDNIH-11251942 on NIH RePORTER

What this research studies

This program studies naturally occurring dog models that have the same kinds of inherited retinal diseases people get, so researchers can see how the disease develops and test potential treatments. The team breeds and maintains specific canine strains and uses AAV-based gene delivery and cell-replacement approaches to try to slow or reverse retinal degeneration. Findings from these preclinical tests help decide which therapies are safe and promising enough to move toward human clinical trials. The work builds on earlier successes where dog studies guided development of human gene and cell therapies.

Who could benefit from this research

Good fit: People with inherited retinal diseases such as retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy, or Best macular dystrophy would be the eventual candidates for therapies developed through this work.

Not a fit: Patients with non-genetic retinal conditions (for example typical age-related macular degeneration), or those whose eyes are already end-stage with no remaining viable photoreceptors, are unlikely to benefit from these specific approaches.

Why it matters

Potential benefit: If successful, this work could lead to new gene or cell-based treatments that slow, stop, or partially restore vision loss from inherited retinal diseases.

How similar studies have performed: Related gene and cell therapy approaches have produced promising results in earlier dog-model work and in some early human trials, though many specific IRDs still lack effective treatments.

Where this research is happening

Philadelphia, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions Animal DiseasesAutosomal Recessive Medullary Cystic DiseaseBest Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.