Stargardt Disease Clinical Trials 2026 — Find Recruiting Studies

About Stargardt Disease

Stargardt Disease is the most common inherited macular dystrophy, caused by mutations in the ABCA4 gene which encodes an ATP-binding cassette transporter essential for clearing toxic vitamin A byproducts from photoreceptor cells. Accumulation of bisretinoid compounds, particularly A2E, leads to progressive retinal pigment epithelium and photoreceptor degeneration centred on the macula. The disease typically presents in the first two decades of life with central vision loss, although the rate of progression is highly variable even among individuals carrying the same mutations.

Common Clinical Features

Progressive central vision loss Difficulty reading or recognising faces Colour vision disturbances Photophobia and photostress Yellow-white flecks at the level of the RPE on fundus examination Dark adaptation delays Paracentral or central scotomas Reduced visual acuity (typically 20/200 or worse at advanced stages)

Clinical Trial Eligibility Tips

What to know before applying to Stargardt Disease trials.

Molecular confirmation of biallelic ABCA4 pathogenic variants is mandatory for most gene therapy and antisense oligonucleotide trials; full-field sequencing including deep intronic variants is recommended.

Many trials exclude patients with best-corrected visual acuity below a specified threshold (e.g., worse than 20/800), so enrolment during earlier disease stages may expand eligibility.

Avoiding vitamin A supplementation is sometimes required pre-trial; discuss current supplement use with your ophthalmologist before screening.