Clinical Trials Logo

Clinical Trial Details — Status: Not yet recruiting

Administrative data

NCT number NCT04014985
Other study ID # 2018-30
Secondary ID 2018-A01066-49
Status Not yet recruiting
Phase N/A
First received
Last updated
Start date September 1, 2019
Est. completion date October 1, 2020

Study information

Verified date July 2019
Source Assistance Publique Hopitaux De Marseille
Contact DRS AP-HM
Email drci@ap-hm.fr
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial 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.


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 abnormalities;

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


Recruitment information / eligibility

Status Not yet recruiting
Enrollment 100
Est. completion date October 1, 2020
Est. primary completion date October 1, 2019
Accepts healthy volunteers No
Gender Female
Age group 18 Years and older
Eligibility 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

Study Design


Related Conditions & MeSH terms


Intervention

Other:
An extensive biological assessment
To study the morphology of red blood cells, the markers of oxidative stress and the signaling pathway of IFGF1.

Locations

Country Name City State
France Assistance Publique Hopitaux de Marseille Marseille

Sponsors (1)

Lead Sponsor Collaborator
Assistance Publique Hopitaux De Marseille

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Primary Comparison of red blood cell morphology Identification of abnormal red blood cells 1 day
Primary Comparison of oxydative stress markers Identification of abnormally high cytokine levels 1 day
Primary Comparison of cholesterol levels Identification of hight cholesterol levels 1 day
See also
  Status Clinical Trial Phase
Completed NCT04988867 - An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome Phase 2/Phase 3
Recruiting NCT00069550 - Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Phase 3
Enrolling by invitation NCT06139172 - Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities N/A
Not yet recruiting NCT04041713 - A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome Phase 2
Completed NCT02705677 - Biobanking of Rett Syndrome and Related Disorders
Terminated NCT02790034 - Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Phase 2/Phase 3
Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Recruiting NCT05932589 - Neurophysiologic Biomarkers in Rett Syndrome
Recruiting NCT04463316 - GROWing Up With Rare GENEtic Syndromes
Completed NCT04776746 - Open-Label Extension Study of Trofinetide for Rett Syndrome Phase 3
Completed NCT04181723 - Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome (LAVENDERâ„¢) Phase 3
Enrolling by invitation NCT03836300 - Parent and Infant Inter(X)Action Intervention (PIXI) N/A
Completed NCT04514549 - ASSESSING EMERALD AND MC10 BIOSTAMP nPOINT BIOSENSORS FOR RETT SYNDROME
Completed NCT02738281 - Natural History of Rett Syndrome & Related Disorders
Terminated NCT02562820 - An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome Phase 1
Completed NCT05687214 - Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome N/A
Recruiting NCT06199700 - Esketamine for the Treatment of Rett Syndrome Early Phase 1
Completed NCT03941444 - ANAVEX2-73 Study in Patients With Rett Syndrome Phase 3
Recruiting NCT06346106 - The Diagnostic Experience of Male Rett Syndrome
Not yet recruiting NCT06338267 - Validation of Innovative Biosensors for Rett Autonomic Symptom Tracking