Patients With RETT Syndrome

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Brief Title

Patients With RETT Syndrome

Official Title

Study of Biological Parameters in 100 Girls With RETT Syndrome

Brief 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.

Detailed Description

      The MECP2 (Methyl-CpG binding protein) gene, located on the X X28 chromosome, encodes a
      heterochromatin nuclear protein. Mecp2 is preferentially found in neurons at a postmitotic
      stage where it promotes brain development. Its ability to fix methylated DNA and contribute
      to the formation of a transcriptional repression complex attributes this protein to a crucial
      role in the control of gene expression. However, until today, its exact role is not known. In
      humans, mutations in the MECP2 gene are at the origin of neurological diseases, the main one
      being Rett's syndrome (RTT-MIM # 312750) where a mutation of MECP2 is found in 95% of cases.
      This dominant pathology linked to the X chromosome has a prevalence of 1/10000 to 1/15000
      births and affects mostly girls. The course of the pathology is characterized by a cessation
      of development between 6 and 18 months after birth. Patients present a set of characteristic
      signs including regression of acquired abilities, manual stereotyping, loss of language,
      behavioral disorders and severe intellectual disability. In their attempt to better
      understand the pathology, many laboratories are currently trying to identify abnormal
      biological parameters in patients that are easy to identify in a non-invasive or minimally
      invasive way in order to indirectly evaluate the progression of the pathology and to identify
      biochemical disorders amenable to direct pharmacological intervention.

      In autumn 2015, several factors were identified as deregulated in model mice or RTT patients
      (Rett syndrome). They could be related to the severity of the disease and indicators of its
      progression. Among these we can mention:

        -  major structural damage to red blood cells;

        -  Inflammation demonstrated and challenged ;

        -  high oxidative stress markers; lipid deregulation and in particular cholesterol

        -  a deficiency of the signaling pathway of insulin and IGF-1.

Study Type


Primary Outcome

Comparison of red blood cell morphology


Rett Syndrome


An extensive biological assessment

Study Arms / Comparison Groups

 Girls with RETT syndrome
Description:  100 girls over 18 years old with RETT syndrome


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

September 1, 2019

Completion Date

October 1, 2020

Primary Completion Date

October 1, 2019

Eligibility Criteria

        Inclusion Criteria:

          -  People with Rett syndrome related to MECP2 gene mutation

          -  Aged under 18 years old.

          -  Regularly followed as part of their illness by Prof. Bahi-Buisson in Necker or Pr Milh
             in Marseille.

          -  Whose state of health justifies a blood test (dosage of one or more anti-epileptics,
             recommended annual phosphocalcic balance, pre-therapeutic assessment before
             introduction of a new molecule ...)

          -  Whose at least one parent (or legal representative) has signed the consent

          -  Patient fasting for 6 hours at the time of sampling.

        Exclusion Criteria:

          -  Contraindication to a balance sheet

          -  Absence of consent of the legal representatives




18 Years - N/A

Accepts Healthy Volunteers



Jean-Olivier ARNAUD, , [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID


Secondary IDs


Responsible Party


Study Sponsor

Assistance Publique Hopitaux De Marseille

Study Sponsor

Jean-Olivier ARNAUD, Study Director, Assistance Publique Hôpitaux de Marseille

Verification Date

July 2019