Dysautonomic Phenotype in Male Patients With MECP2 Mutation
NCT ID: NCT04502199
Last Updated: 2020-08-06
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
20 participants
OBSERVATIONAL
2020-08-15
2021-01-13
Brief Summary
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Detailed Description
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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
Conditions
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Study Design
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COHORT
RETROSPECTIVE
Interventions
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non interventional study
observational study
Eligibility Criteria
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Exclusion Criteria
16 Years
MALE
No
Sponsors
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University Hospital, Brest
OTHER
Responsible Party
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Locations
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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
Nîmes, , France
Hôpital Robert Debre
Paris, , France
Countries
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Central Contacts
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Facility Contacts
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DELPLANCQ DELPLANCQ
Role: primary
Mathieu MILH
Role: primary
Marie FARMER,
Role: primary
Catherine SARRET
Role: primary
Other Identifiers
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MECP2BOYS (29BRC20.0182)
Identifier Type: -
Identifier Source: org_study_id
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