Dysautonomic Phenotype in Male Patients With MECP2 Mutation (MECP2BOYS)

Dysautonomic Signs Among MECP2boys

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.

Study Overview

• Status: Unknown
• Conditions: Dysautonomia; Masculinity; MECP2-Related Severe Neonatal Encephalopathy
• Intervention / Treatment: Other: non interventional study

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 : 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 is : patient under judicial protection or participation refusal by one of the legal guardian. Inclusion will take place in August 2020.

We had conceived an excel spreadsheet (2007 version) to collect all the datas needed with general data such as age, genetic mutation with the HGVS nomenclature using the NM_001110792.2, familial and personal history, mensurations, dysmorphic signs. To search dysautonomic signs, we used a system approach. We will look for neurological signs : abnormal movements, sleep disturbance, cardiologic signs :abnormal bradycardia or tachycardia, hypotension, rythms anomalies, respiratory signs : respiratory irregularities, apnea, hyperpnea , digestive signs : gastrooesophagal reflux, constipation, diarrhea, vomiting or subocclusif episodes, thermoregulation signs : abnormal hypo or hyperthermia, excessive sweating. Each time a dysautonomic sign will be reported in a letter of a patient, we will demand this sign to be objectived by a complementary exam, or by a precise device during an hospitalisation : electoencephalogram (EEG), polysomnography (PSG), Electrocardiogram (ECG), holter-ECG, digestive fibroscopies, scoped surveillance.

If we have a positive response, we will contact the main caregiver of the patient who can be a neurologist or a geneticist and will provid him a spreadsheet and an explanatory sheet. We will ask of him a systematic review of all the letters of the patient including letters of hospitalisation, of the specialists, complementary exams. A non-opposition letter will be sent to him in a way he can send it to the legal guardians of the children : a non-opposition of 15 days will be requested. Then, the filled spreadsheet will be sent back to the center of inclusion in Brest through a securised mailbox. Data will be kept on a secure database with a password.

Our primary endpoint is the presence of at least one dysautonomic sign. We intend to include between 10 and 20 patients in this multicentric study. To analyse our results, we will use a descriptive approach.

This protocole was validated by the Ethic Comitee of Brest in june 18, 2020

• Study Type: Observational
• Enrollment (Anticipated): 20

Contacts and Locations

• Study Contact: Name: Juliette ROPARS; Phone Number: 0298223657; Email: juliette.ropars@chu-brest.fr

Study Locations

• France
  • Besançon, France
    • CHU de Besancon
    • Contact: DELPLANCQ DELPLANCQ
  • Brest, France, 29609
    • CHRU de Brest
  • Lille, France
    • CHRU de Lille
    • Contact: PETIT PETIT; Email: Florence.petit@chru-lille.fr
  • Lyon, France
    • Hospices Civiles de Lyon
    • Contact: Gaetan LESCA,; Email: gaetan.lesca@chu-lyon.fr
    • Sub-Investigator: Vincent DESPORTES
    • Sub-Investigator: Dorothée VILLE
  • Marseille, France
    • Hopital De La Timone
    • Contact: Mathieu MILH
  • Nimes, France
    • CHU de NIMES
    • Contact: Marie FARMER,
  • Paris, France
    • Hôpital Robert Debré
    • Contact: Catherine SARRET

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 16 years (CHILD)
• Accepts Healthy Volunteers: N/A
• Genders Eligible for Study: Male

• Sampling Method: Non-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

Description

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

-

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
presence of at least one dysautonomic sign	one month

Collaborators and Investigators

• Sponsor: University Hospital, Brest

Study record dates

Study Major Dates

• Study Start (ANTICIPATED): August 15, 2020
• Primary Completion (ANTICIPATED): January 13, 2021
• Study Completion (ANTICIPATED): January 13, 2021

Study Registration Dates

• First Submitted: August 4, 2020
• First Submitted That Met QC Criteria: August 4, 2020
• First Posted (ACTUAL): August 6, 2020

Study Record Updates

• Last Update Posted (ACTUAL): August 6, 2020
• Last Update Submitted That Met QC Criteria: August 4, 2020
• Last Verified: July 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Brain Diseases; Rett Syndrome; Primary Dysautonomias; Autonomic Nervous System Diseases
• Other Study ID Numbers: MECP2BOYS (29BRC20.0182)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: All collected data that underlie results in a publication
• IPD Sharing Time Frame: Data will be available beginning six months and ending five years following the end study
• IPD Sharing 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.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No