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Patients With RETT Syndrome

NCT04014985 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100

Last updated 2019-07-10

No results posted yet for this study

Summary

It was proposed to the French Association of Rett Syndrome (AFSR) to perform an extensive biological assessment in a series of 100 girls with Rett's syndrome and carriers of a mutation in the MECP2 gene in order to confirm or confirm to reverse the abnormalities identified previously and possibly, to highlight new biomarkers of the pathology. The analysis will focus on classical hematological criteria, iron markers, endocrine assays, lipid quantification and markers of inflammation. At the end of the project, each family will receive the complete biological assessment carried out on their daughter which will represent a direct benefit of the implication in this clinical research project.

Conditions

Interventions

OTHER

An extensive biological assessment

To study the morphology of red blood cells, the markers of oxidative stress and the signaling pathway of IFGF1.

Sponsors & Collaborators

  • Assistance Publique Hopitaux De Marseille

    lead OTHER

Principal Investigators

  • Jean-Olivier ARNAUD · Assistance Publique Hôpitaux de Marseille

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-09-01
Primary Completion
2019-10-01
Completion
2020-10-01

Countries

  • France

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 NCT04014985 on ClinicalTrials.gov