NCT04502199

Brief Summary

Dysautonomic signs are well known among girls with a Rett Syndrom. Rett syndrom is caused by a MECP2 mutation in 95% of cases. We want to search dysautonomic signs among boys with a MECP2 mutations because they are less studied than the girls and they have more varied phenotypes.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
20

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Aug 2020

Shorter than P25 for all trials

Geographic Reach
1 country

7 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

August 4, 2020

Completed
2 days until next milestone

First Posted

Study publicly available on registry

August 6, 2020

Completed
9 days until next milestone

Study Start

First participant enrolled

August 15, 2020

Completed
5 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 13, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 13, 2021

Completed
Last Updated

August 6, 2020

Status Verified

July 1, 2020

Enrollment Period

5 months

First QC Date

August 4, 2020

Last Update Submit

August 4, 2020

Conditions

MECP2-Related Severe Neonatal EncephalopathyDysautonomiaMasculinity

Outcome Measures

Primary Outcomes (1)

  • presence of at least one dysautonomic sign

    one month

Interventions

non interventional studyOTHER

observational study

Eligibility Criteria

AgeUp to 16 Years
Sexmale(Gender-based eligibility)
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

less than 16 years old or dead before 16 years old patients of masculin sex with a missense or non-sens mutation in the MECP2 gene

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (7)

CHU de Besançon

Besançon, France

Location

CHRU de Brest

Brest, 29609, France

Location

CHRU de Lille

Lille, France

Location

Hospices Civiles de Lyon

Lyon, France

Location

Hôpital de la Timone

Marseille, France

Location

CHU de NIMES

Nîmes, France

Location

Hôpital Robert Debre

Paris, France

Location

MeSH Terms

Conditions

Encephalopathy, Neonatal Severe, Due To Mecp2 MutationsAutonomic Nervous System DiseasesMasculinity

Condition Hierarchy (Ancestors)

Nervous System DiseasesSocial BehaviorBehavior

Central Study Contacts

Juliette ROPARS

CONTACT

0298223657juliette.ropars@chu-brest.fr

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 4, 2020

First Posted

August 6, 2020

Study Start

August 15, 2020

Primary Completion

January 13, 2021

Study Completion

January 13, 2021

Last Updated

August 6, 2020

Record last verified: 2020-07

Data Sharing

IPD Sharing
Will share

All collected data that underlie results in a publication

Shared Documents
STUDY PROTOCOL
Time Frame
Data will be available beginning six months and ending five years following the end study
Access Criteria
Data access requests will be reviewed by the internal committee of Brest UH. Requestors will be required to sign and complete a data access agreement.

Locations

FR(7)