Biomarkers in Rett Syndrome

Launched by IRCCS FONDAZIONE STELLA MARIS · Mar 28, 2024

Keywords

ClinConnect Summary

This clinical trial, titled "Biomarkers in Rett Syndrome," is focused on understanding Rett syndrome (RTT), a genetic disorder that mainly affects girls and leads to serious challenges in their development and ability to communicate and move. The study aims to find early signs (biomarkers) of RTT and explore how different brain connections are affected in individuals with this condition. By gathering information about the patients' medical history, genetics, and clinical evaluations, researchers hope to improve the early diagnosis and treatment options for Rett syndrome, making it easier to provide effective care.

To participate in the trial, girls aged 0 to 18 years who have been diagnosed with classic Rett syndrome or specific variants (linked to certain gene mutations) are eligible, as long as they have written consent from their parents. The study will also include siblings of the participants who will undergo specific brain tests (EEG). Participants can expect to contribute to important research that could lead to better understanding and treatment of RTT. It's important to note that patients with serious health issues that would prevent them from participating in the study will not be included.

Gender

FEMALE

Eligibility criteria

• Inclusion Criteria:
• * All subjects aged between 0 and 18 years with Rett Syndrome, classic (mutation of the MECP2 gene) and Rett variants (CDKL5, FOXG1 mutations, and other MECP2 mutations), genetically confirmed:
• • newly diagnosed
• • previously diagnosed if possessing data recorded and stored in the enrollment centers' records;
• • upon written informed consent from the parents.
• • Siblings of the probands of any age who will undergo EEG registration will also be enrolled.
• Exclusion Criteria:
• • • Patients with Rett Syndrome presenting a compromise in the general health status to such an extent that it makes it impossible to apply the clinical-instrumental evaluation and monitoring tools used for the study.