Identifying biomarkers in Rett Syndrome

BIRS (Biomarkers in Rett Syndrome): a Long-term Observational Multicenter Study of the Natural History of Rett Syndrome to Define New Clinical and Instrumental Biomarkers

This study is trying to find signs in the brain and eye movements of girls with Rett Syndrome to help understand the disease better.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: 0 Years to 18 Years
• Sex: Female
• Sponsor: IRCCS Fondazione Stella Maris (other)
• Locations: 4 sites (Dublin and 3 other locations)
• Trial ID: NCT06346444 on ClinicalTrials.gov

What this trial studies

This observational study aims to collect and analyze clinical and instrumental data from patients with Rett Syndrome, a severe neurological disorder primarily affecting females. It will involve a multicentric enrollment of newly diagnosed and previously diagnosed patients, as well as their siblings, to monitor and identify potential disease biomarkers. The study will utilize EEG to register brain activity and Eye Tracker technology for patient assessments, with data analyzed by a specialized research group at Trinity College Dublin. The study is expected to last four years and will include annual follow-ups for comprehensive clinical evaluations.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 0 to 18 years with genetically confirmed Rett Syndrome or its variants.

Not a fit: Patients with Rett Syndrome who have significant health compromises that prevent effective evaluation and monitoring will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved early diagnosis and targeted therapies for patients with Rett Syndrome.

How similar studies have performed: While the approach of identifying biomarkers in Rett Syndrome is promising, it is largely novel and has not been extensively tested in previous studies.

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.

Where this trial is running

Dublin and 3 other locations

• Trinity College Institute of Neuroscience, Lloyd Building, D2 — Dublin, Ireland (RECRUITING)
• Ospedale Versilia Centro di Riferimento — Lido Di Camaiore, Lucca, Italy (RECRUITING)
• IRCCS Fondazione Stella Maris — Calambrone, Pisa, Italy (RECRUITING)
• AOU Meyer — Firenze, Italy (RECRUITING)

Study contacts

• Study coordinator: Roberta Battini

Conditions: Rett Syndrome