UnknownNot Applicable

Dysautonomic Phenotype in Male Patients With MECP2 Mutation

France20 participantsStarted 2020-08-15

Plain-language 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.

Who can participate

Age range16 Years

SexMALE

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Inclusion Criteria: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 Criteria:patient under judicial protection or participation refusal by one of the legal guardian \-

What they're measuring

presence of at least one dysautonomic sign

Timeframe: one month

Trial details

NCT IDNCT04502199

SponsorUniversity Hospital, Brest

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2021-01-13

Contact for this trial

Juliette ROPARS

0298223657 juliette.ropars@chu-brest.fr

View on ClinicalTrials.gov More MECP2-Related Severe Neonatal Encephalopathy trials