Gene Therapy for Stargardt Disease

Stargardt disease is a rare genetic eye disorder that leads to progressive vision loss, primarily affecting children and young adults. However, recent advancements in gene therapy are paving the way for potential treatments. Scientists from the Institute of Molecular and Clinical Ophthalmology in Basel, Switzerland, in partnership with Beam Therapeutics, have made significant progress in this field.

Understanding Stargardt Disease

• Stargardt disease, also known as Stargardt macular degeneration, impacts both eyes.
• It results from an excessive buildup of lipofuscin in the macula, leading to vision deterioration.
• The condition is linked to mutations in the ABCA4 gene, which is crucial for Vitamin A metabolism.
• Currently, no definitive cure exists for this disease.

Cutting-Edge Gene Editing Approach

• Researchers have developed an advanced adenine base editor, a highly precise genome-editing tool.
• This editor is delivered to the retina using an adeno-associated viral vector (AAV).
• AAVs are non-integrating vectors, meaning they do not typically alter the host genome permanently.
• The technique successfully corrected the ABCA4 gene mutation in experimental models.

Encouraging Research Outcomes

• The study showed high levels of gene correction in mice and nonhuman primates.
• No unintended genetic modifications (off-target effects) were detected, demonstrating the technique’s precision.
• These findings suggest that similar gene-editing strategies could be applied to other ocular diseases.

Prevalence of Stargardt Disease in India

A study conducted by the L.V. Prasad Eye Institute in Hyderabad revealed:

• Stargardt disease affects approximately 1 in 8,000 to 10,000 individuals in India.
• Males showed a higher incidence, with symptoms often appearing in the second decade of life.
• A notable percentage of cases had a family history of the disease, often linked to parental consanguinity.

These advancements in gene therapy bring new hope for individuals affected by Stargardt disease, marking a significant step toward potential treatments.