Advances in Gene Therapy for Stargardt Disease

January 24, 2025

Stargardt disease is a rare genetic eye condition causing progressive vision loss, primarily affecting children and young adults. Recent developments in gene therapy offer hope for effective treatments. Researchers from the Institute of Molecular and Clinical Ophthalmology in Basel, Switzerland, in collaboration with Beam Therapeutics, have made strides in this area.

About Stargardt Disease

Stargardt disease, or Stargardt macular degeneration, is typically bilateral, affecting both eyes.
It results from excessive accumulation of lipofuscin in the macula, leading to vision impairment.
The disease is often linked to mutations in the ABCA4 gene, which plays important role in Vitamin A metabolism.
Currently, there is no available cure.

Innovative Gene Editing Technique

The research team developed an advanced adenine base editor, a precise genome editing tool.
This editor was delivered to the retina using an adeno-associated viral vector (AAV).
AAVs are non-integrating vectors, meaning the DNA they deliver does not usually integrate into the host genome.
This method successfully corrected the ABCA4 gene mutation in model organisms.

Promising Research Findings

The new study demonstrated high levels of gene correction in mice and nonhuman primates.
No off-target effects were observed, indicating a high specificity of the editing process.
The findings suggest potential applications for treating other ocular diseases through similar gene editing strategies.

Stargardt Disease in India

A study from L. V. Prasad Eye Institute in Hyderabad found that:

In India, Stargardt disease affects 1 in 8,000 to 10,000 individuals
Higher incidence was found in males, with symptoms often appearing in the second decade of life.
Family history and parental consanguinity were noted in percentage of cases.

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