Status:
UNKNOWN
Patients With RETT Syndrome
Lead Sponsor:
Assistance Publique Hopitaux De Marseille
Conditions:
Rett Syndrome
Eligibility:
FEMALE
18+ years
Phase:
NA
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 ge...
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 promot...
Eligibility Criteria
Inclusion
- 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
- Contraindication to a balance sheet
- Absence of consent of the legal representatives
Key Trial Info
Start Date :
September 1 2019
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
October 1 2020
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT04014985
Start Date
September 1 2019
End Date
October 1 2020
Last Update
July 10 2019
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Assistance Publique Hopitaux de Marseille
Marseille, France, 13354