Novel Therapies for Stargardt Disease

Both gene-targeted and gene-agnostic treatments have been shown to restore ABCA4 function and impact broader retinal processes.

By: Cesar Estrada-Puente, MD, Paula C. Morales, MD, Ramiro S. Maldonado, MD

Retinal Physician October 1, 2025 Vol 22, Issue October 2025 Page(s): 19-22

Clinical Scorecard: Novel Therapies for Stargardt Disease

Category	Detail
Condition
Key Mechanisms	Biallelic mutations in the ABCA4 gene disrupt clearance of all-trans-retinal derivatives, leading to toxic bisretinoid accumulation and lipofuscin buildup, which drives RPE dysfunction.
Target Population
Care Setting

ALK-001 shows promise in slowing disease progression by reducing A2E accumulation, with significant results in TEASE-1 trial.
Tinlarebant demonstrates potential in stabilizing visual acuity and reducing lesion growth, with promising phase 2 results.
Emixustat did not meet primary endpoints in phase 3 trials, indicating the need for further investigation.
Metformin is being investigated for its effects on lipid metabolism in STGD, with preclinical studies supporting its potential.

Clinical evaluation and genetic testing for ABCA4 mutations, including genetic counseling.

Participation in clinical trials for novel therapies, with informed consent regarding investigational status.

Regular assessment of visual acuity and retinal structure via imaging, with attention to potential adverse effects.

Potential adverse effects from investigational therapies, including those related to lipid metabolism.

Adolescents and adults (ages 12 and up) with Stargardt disease.

Encourage enrollment in clinical trials for access to novel therapies, ensuring patients understand the investigational nature.
Monitor patients closely for changes in visual function and retinal health.
Educate patients about the nature of STGD and the importance of genetic counseling.