Patients With RETT Syndrome

NCT04014985 | Unknown

• 2 other identifiers: 2018-302018-A01066-49
• Study Type: interventional
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Rett Syndrome

Outcome Measures

Primary Outcomes (3)

• Comparison of red blood cell morphology

  Identification of abnormal red blood cells

  1 day

• Comparison of oxydative stress markers

  Identification of abnormally high cytokine levels

  1 day

• Comparison of cholesterol levels

  Identification of hight cholesterol levels

  1 day

Study Arms (1)

Girls with RETT syndrome

OTHER

100 girls over 18 years old with RETT syndrome

Other: An extensive biological assessment

Interventions

An extensive biological assessment OTHER

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

Girls with RETT syndrome

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• Contraindication to a balance sheet
• Absence of consent of the legal representatives

Sponsors & Collaborators

• Assistance Publique Hopitaux De Marseille: lead

Study Sites (1)

Assistance Publique Hopitaux de Marseille

Marseille, 13354, France

Location

MeSH Terms

Conditions

Rett Syndrome

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System

Study Officials

• Jean-Olivier ARNAUD

  Assistance Publique Hôpitaux de Marseille

  STUDY DIRECTOR

Central Study Contacts

DRS AP-HM

CONTACT

drci@ap-hm.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 6, 2019
• First Posted: July 10, 2019
• Study Start: September 1, 2019
• Primary Completion: October 1, 2019
• Study Completion: October 1, 2020
• Last Updated: July 10, 2019

Record last verified: 2019-07

Locations

FR (1)