Status:
UNKNOWN
Dysautonomic Phenotype in Male Patients With MECP2 Mutation
Lead Sponsor:
University Hospital, Brest
Conditions:
MECP2-Related Severe Neonatal Encephalopathy
Dysautonomia
Eligibility:
MALE
Up to 16 years
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 be...
Detailed Description
First, we will launch a national call for participation in all the genetics departments in France to research boys with a missense or a non-sens mutation in the MECP2 gene. Our inclusion criteria is :...
Eligibility Criteria
Inclusion
- 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 -
Exclusion
- patient under judicial protection or participation refusal by one of the legal guardian
- \-
Key Trial Info
Start Date :
August 15 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
January 13 2021
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT04502199
Start Date
August 15 2020
End Date
January 13 2021
Last Update
August 6 2020
Active Locations (7)
Enter a location and click search to find clinical trials sorted by distance.
1
CHU de Besançon
Besançon, France
2
CHRU de Brest
Brest, France, 29609
3
CHRU de Lille
Lille, France
4
Hospices Civiles de Lyon
Lyon, France