Hospital Sant Joan de Déu
Sharing to move ahead

The research project on Stargardt’s disease becomes international

Monday, May 4, 2015
  • The research initiative will be coordinated by the medical team of the Paediatric Ophthalmology Service of Sant Joan de Déu Barcelona Children’s Hospital, in particular: Doctor J. Prat, Doctor J. Català and Doctor J. Díaz. The research is inherently opened to international collaboration.
  • This research project counts on the support of most representative patients’ associations of Spain, including, but not limited to: Association of Retinitis Pigmentosa (Asociación de Retinosis Pigmentaria), Spanish Association of Disabled and Blind People (DOCE Discapacitados Otros Ciegos de España), Spanish Association of Patients and Parents of Children with Stargardt’s Disease (Stargardt APNES España), and the Paediatric Group of Retinal Dystrophies of the Catalan Health Institute (ICS Institut Català de la Salut) of Lleida.
  • The international participation is being led by patient representatives of Argentina. In particular, through the involvement of the Argentine Association of Patients and Parents of Children with Stargardt’s Disease (Stargardt APNES Asociación de Pacientes y Padres de Niños con Enfermedad de Stargardt de Argentina), and the support of the Argentine Federation of Rare Diseases (FADEPOF Federación Argentina de Enfermedades Poco Frecuentes).
  • The Garrahan Hospital of Buenos Aires will be represented in the scientific team by the coordinator of the Hospital Research Institute, Doctor G. Chantada. Likewise, O. Podhajcer, PhD in Biology, from Leloir Institute Foundation, will participate in all issues related to the molecular study of the Stargardt’s disease, as well as the analysis of genotype-phenotype correlation.

Stargardt’s disease, also known as juvenile macular dystrophy, is a hereditary eye disease characterized by a progressive macular degeneration. It affects both male and female, and it has an estimated prevalence between one and five patients per 10,000 inhabitants. (Source: Orphanet).

Nowadays, the prognosis is a progressive loss of vision acuity, which leads to eventual blindness.

There is no curative treatment for Stardgardt disease; nonetheless there are some treatment options at an experimental stage, such as:

  • Gene-based therapy: gene replacement by injection of a viral vector carrying a normal ABCA4 gene (StarGenTM).
  • Transplantation of pigment cells obtained from embryonic stem cells (Ocata Therapeutics, formerly named Advanced Cell Technology).
  • Retina transplantation of embryonic optic cups generated in vitro (Doctor Y. Sasai).
  • Fenretinide treatment.
  • Retinal prosthesis (Argus II).

From the science team of Rare Commons we make an appeal for participation to all patients, paediatric or not; we invite all of them to join this open clinical research initiative, sponsored by Sant Joan de Déu Barcelona Children’s Hospital.

The main objectives of the research project are:

  • Description of the natural history of Stardgardt’s disease, which includes the development of a vision loss curve for patients within the research project, with the aim of being able to obtain evidence that support the assessment of possible treatments, genetic counselling, and medical diagnosis.
  • Evaluation of genotype-phenotype correlations, including genes and mutations responsible for Stargardt’s disease.
  • Preparation of a comprehensive patient registry, enabling us to have access to all clinical information necessary in order to evaluate the criteria for inclusion in a possible trial.
  • Development of a clinical research network for all professionals involved, in order to elaborate clinical guidelines, discuss on potential therapies, and generate a synergistic effect on knowledge sharing.

The community of families and professionals involved in Stargardt’s disease is expected to become fully operational by July-September 2015. Before that date, the determinant factor is to carry out an effective recruiting process, aiming to form a sufficiently representative sample to make a good progress on the basis of scientific evidence.

Patients and their families interested to take part in the research project are welcome to apply. Please satisfy the following requirements:

  • Join the registration form and follow the procedure to submit the informed consent to Sant Joan de Déu Barcelona Children’s Hospital in order to take part in the research project.
  • Contact the ophthalmologist handling the patient, as well as the geneticist handling the patient or his/her family, and invite them to learn, take part, and benefit from a participatory research initiative in Rare Commons’ platform.

For any questions concerning the procedure, the investigation technique, or for further information please contact the technical team of Rare Commons:


Galería de imágenes

  • Hospital Garrahan- Argentina
  • Federación Argentina de Enfermedades Poco Frecuentes
  • Stargardt APNES Argentina
  • Stargartd España
  • Asociación Retina España
  • Discapacitados Otros Ciegos España
  • Mácula Retina - Asociación de Enfermos y Familiares
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