A project coordinated by the IIS Aragón seeks to improve the diagnosis of Stargardt disease in Spain

The StargSpain initiative combines genetics, imaging techniques and Artificial Intelligence to advance towards a more accurate and personalized diagnosis of this rare disease

The Aragon Health Research Institute (IIS Aragon), through the Retina Research Group, coordinates the StargSpain project, a national initiative aimed at improving the diagnosis and understanding of the disease of Stargardt Type 1, the most common inherited retinal dystrophy and one of the main causes of central vision loss in young people.

The study, which involves specialists in ophthalmology, genetics, optometry, and biomedical engineering from various hospitals and research centers across the country, is already underway. active phase of recruitment and data collection, after completing the standardization of protocols and obtaining the necessary ethical approvals.

Isabel Pinilla, principal investigator of the Retina Research Group, explain what “StargSpain was created to improve the diagnosis of Stargardt disease and advance our understanding of it through a precision medicine approach. The goal is to identify specific mutations, anticipate how the disease may progress in each patient, and better pave the way for the arrival of future targeted therapies.”.

A study that combines genetics, imaging and Artificial Intelligence

StargSpain is based on three main pillars: the collection of advanced clinical and genetic informationthe analysis of biomarkers obtained through imaging techniques and using Artificial Intelligence to process large volumes of data. This approach is especially relevant in a disease as heterogeneous as Stargardt, in which patients with the same mutation can present very different progressions.

In this context, the project will allow for the cross-referencing of genetic, clinical, and imaging data to improve disease classification and advance predictive models of its progression. To this end, patients diagnosed with or suspected of having Stargardt disease type 1 due to mutations in the ABCA4 gene, at any stage of the disease, will participate.

The evaluation includes clinical tests such as visual acuity and microperimetry, a complete ophthalmological examination, multimodal imaging techniques such as optical coherence tomography, autofluorescence and angiography, as well as genetic analysis to identify variants and progression-modifying factors.

Pinilla also emphasizes that “One of StargSpain’s main strengths is its integrated, nationwide approach. Unlike previous work, which tended to focus on smaller groups or a single type of test, this project combines genetics, imaging, and artificial intelligence in one of the best-characterized cohorts in Spain and strengthens collaboration between centers in different autonomous communities.”.

The data is centralized on the platform REDChapManaged by the Aragonese Institute of Health Sciences, this initiative aims to guarantee consistent, high-quality information. Simultaneously, the team has already begun training the first Artificial Intelligence algorithms using retinal images.

In the coming months, the project will advance along three main lines: completing recruitment to achieve a nationally representative sample, deepening the genetic analysis of the most complex cases, and validating AI tools to automate biomarker quantification. In the medium term, these advances will optimize clinical monitoring, define which mutations require closer control, and offer patients a more personalized prognosis regarding the progression of their vision. Furthermore, the study will facilitate the creation of a database of patients prepared to participate in future clinical trials of new gene or drug therapies.

“Leading a project of this magnitude reaffirms the commitment of the IIS Aragón to rare diseases. Coordinating experts in genetics, engineering, and clinical practice from different centers across the country presents an organizational challenge, but also an opportunity to accelerate scientific knowledge and position Spain at the forefront of research into retinal dystrophies.”Pinilla concludes.

The StargSpain project, reference PMPER24/00022, is being developed within the framework of the 2024 Joint Missions call of the Carlos III Health Institute (ISCIII), under the PERTE program for Cutting-Edge Health. It is funded through the Resolution of December 18, 2024, issued by the Directorate of the Carlos III Health Institute, OA, MP, which grants subsidies to Research Projects on rare diseases, under the 2024 Joint Missions call of the Ministry of Health and the Ministry of Science, Innovation and Universities. It is also funded by the European Union – NextGenerationEU, with a budget of €1.167.650.