Dysautonomic Phenotype in Male Patients With MECP2 Mutation

Dysautonomia Clinical Trial

— MECP2BOYS  

Official title:

Dysautonomic Signs Among MECP2boys

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT04502199
• Other study ID #: MECP2BOYS (29BRC20.0182)
• Status: Not yet recruiting
• Start date: August 15, 2020
• Est. completion date: January 13, 2021

Study information

• Verified date: July 2020
• Source: University Hospital, Brest
• Contact: Juliette ROPARS
• Phone: 0298223657
• Email: juliette.ropars[@]chu-brest.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 20
• Est. completion date: January 13, 2021
• Est. primary completion date: January 13, 2021
• Gender: Male
• Age group: N/A to 16 Years

Eligibility

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

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Related Conditions & MeSH terms

• Autonomic Nervous System Diseases
• Brain Diseases
• Dysautonomia
• Masculinity
• MECP2-Related Severe Neonatal Encephalopathy
• Primary Dysautonomias

Intervention

Other:
• non interventional study
observational study

Locations

Country	Name	City	State
France	CHU de Besançon	Besançon
France	CHRU de Brest	Brest
France	CHRU de Lille	Lille
France	Hospices Civiles de Lyon	Lyon
France	Hôpital de la Timone	Marseille
France	CHU de NIMES	Nimes
France	Hôpital Robert Debre	Paris

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Brest

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	presence of at least one dysautonomic sign		one month