Rett Syndrome Clinical Trial
Official title:
Study of Biological Parameters in 100 Girls With RETT Syndrome
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.
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
abnormalities;
- a deficiency of the signaling pathway of insulin and IGF-1.
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