A Share4Rare study analyzes the correlation between brain structure and the severity of Rett syndrome
People affected by Rett syndrome, primarily girls, have a severe disability that affects almost every aspect of life, from speech to the ability to walk, eat, and even breathe. This is often accompanied by other disorders, affecting the neurological system and others, that require specific treatments and, in many cases, are the main cause of impaired quality of life. The physical features of the disease can be recognizable, but they generally appear months after the first symptoms are observed.
In many patients with rare diseases that affect neurodevelopment, a magnetic resonance imaging (MRI) is performed as part of the diagnostic workup.
What does this study consist of?
Taking advantage of the MRI scan performed on these types of patients, this project uses an innovative methodology to study the correlation between clinical imaging (MRI) and patient-reported data.
In this specific case, the brain MRI scans of 13 patients with Rett syndrome, treated at the Clínica Rett of Hospital Sant Joan de Déu Barcelona, are compared with information provided directly by these patients after answering questions about quality of life and disease severity through the Share4Rare platform. This analysis aims to study whether there is a direct relationship, a correlation, between the differences found in clinical imaging and the disease severity degree.
Another objective of the study is to determine if there are differences between the brain images of girls with Rett syndrome compared to those of other patients without any neurological abnormalities.
Furthermore, this study is a pilot project to test the platform's new technological development for comparing patient-reported data with clinical imaging data. The success of this project will allow Share4Rare to offer the platform as a technological support for implementing this type of study.
Who promotes the study?
Este estudio piloto ha sido impulsado por la Fundació de Recerca Sant Joan de Déu y el Institut de Recerca Sant Joan de Déu, con un equipo investigador multidisciplinar liderado por el Servicio de Neurología del Hospital Sant Joan de Déu Barcelona y que cuenta con la colaboración de especialistas en diagnóstico por la imagen, en innovación tecnológica y en ciencia de datos.
This pilot study has been promoted by the Fundació de Recerca Sant Joan de Déu and the Institut de Recerca Sant Joan de Déu, with a multidisciplinary research team led by the Neurology Department of Hospital Sant Joan de Déu Barcelona and collaborating with specialists in diagnostic imaging, technological innovation, and data science.
