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Biomarkers in Rett Syndrome

NCT06346444 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2024-04-04

No results posted yet for this study

Summary

Rett syndrome (RTT) is an X-linked genetic disorder that causes severe neurological development disorder. In its classic form, it seems to affect almost exclusively females with an incidence of up to one in 10,000 females. Patients affected by Rett Syndrome can present a wide range of symptoms, in different combinations and of varying intensity, such as slowed growth of head circumference, abnormalities in walking and balance, loss of functional use of the hands often replaced by repetitive and stereotyped hand movements like "hand washing", loss of communicative-relational skills including expressive language, epilepsy, breathing abnormalities, and osteo-muscular alterations. In light of the growing potential of clinical therapies, identification and early diagnosis are considered essential. Many disease modification strategies have been achieved through translational research studies and clinical trials that have allowed the recognition of the most effective therapeutic and clinical interventions to date.

This study arises from the need to advance in the understanding of the pathogenesis of RTT through a multicentric collaboration in order to (a) identify early biomarkers of RTT (b) delve into the alterations of interconnectivity, crucial for understanding the loss of motor functions and language through systematic collection of anamnestic, genetic, and clinical-instrumental data. The aim is to provide a valuable contribution to the study of the clinical phenotype of Rett and the identification of early interventions.

Conditions

Interventions

OTHER

Diagnostic test and behavioral

Questionnaires (CGI, RSBQ) and Outcome measurements (Neuroscope, EEG, Brain MRI, Bone densitometry, X-ray of thoracic and lumbosacral spine Blood biomarkers-RNA, proteins, other metabolites-)

Sponsors & Collaborators

  • Meyer Children's Hospital IRCCS

    collaborator OTHER

  • Azienda USL Toscana Nord Ovest

    collaborator OTHER

  • University of Dublin, Trinity College

    collaborator OTHER

  • IRCCS Fondazione Stella Maris

    lead OTHER

Eligibility

Min Age
0 Years
Max Age
18 Years
Sex
FEMALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2020-08-03
Primary Completion
2024-02-20
Completion
2024-12-31

Countries

  • Ireland
  • Italy

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06346444 on ClinicalTrials.gov