<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT04502199</url>
  </required_header>
  <id_info>
    <org_study_id>MECP2BOYS (29BRC20.0182)</org_study_id>
    <nct_id>NCT04502199</nct_id>
  </id_info>
  <brief_title>Dysautonomic Phenotype in Male Patients With MECP2 Mutation</brief_title>
  <acronym>MECP2BOYS</acronym>
  <official_title>Dysautonomic Signs Among MECP2boys</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Brest</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Hospital, Brest</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Dysautonomic signs are well known among girls with a Rett Syndrom. Rett syndrom is caused by&#xD;
      a MECP2 mutation in 95% of cases. We want to search dysautonomic signs among boys with a&#xD;
      MECP2 mutations because they are less studied than the girls and they have more varied&#xD;
      phenotypes.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      First, we will launch a national call for participation in all the genetics departments in&#xD;
      France to research boys with a missense or a non-sens mutation in the MECP2 gene. Our&#xD;
      inclusion criteria is : less than 16 years old or dead before 16 years old patients of&#xD;
      masculin sex with a missense or non-sens mutation in the MECP2 gene. Exclusion criteria is :&#xD;
      patient under judicial protection or participation refusal by one of the legal guardian.&#xD;
      Inclusion will take place in August 2020.&#xD;
&#xD;
      We had conceived an excel spreadsheet (2007 version) to collect all the datas needed with&#xD;
      general data such as age, genetic mutation with the HGVS nomenclature using the&#xD;
      NM_001110792.2, familial and personal history, mensurations, dysmorphic signs. To search&#xD;
      dysautonomic signs, we used a system approach. We will look for neurological signs : abnormal&#xD;
      movements, sleep disturbance, cardiologic signs :abnormal bradycardia or tachycardia,&#xD;
      hypotension, rythms anomalies, respiratory signs : respiratory irregularities, apnea,&#xD;
      hyperpnea , digestive signs : gastrooesophagal reflux, constipation, diarrhea, vomiting or&#xD;
      subocclusif episodes, thermoregulation signs : abnormal hypo or hyperthermia, excessive&#xD;
      sweating. Each time a dysautonomic sign will be reported in a letter of a patient, we will&#xD;
      demand this sign to be objectived by a complementary exam, or by a precise device during an&#xD;
      hospitalisation : electoencephalogram (EEG), polysomnography (PSG), Electrocardiogram (ECG),&#xD;
      holter-ECG, digestive fibroscopies, scoped surveillance.&#xD;
&#xD;
      If we have a positive response, we will contact the main caregiver of the patient who can be&#xD;
      a neurologist or a geneticist and will provid him a spreadsheet and an explanatory sheet. We&#xD;
      will ask of him a systematic review of all the letters of the patient including letters of&#xD;
      hospitalisation, of the specialists, complementary exams. A non-opposition letter will be&#xD;
      sent to him in a way he can send it to the legal guardians of the children : a non-opposition&#xD;
      of 15 days will be requested. Then, the filled spreadsheet will be sent back to the center of&#xD;
      inclusion in Brest through a securised mailbox. Data will be kept on a secure database with a&#xD;
      password.&#xD;
&#xD;
      Our primary endpoint is the presence of at least one dysautonomic sign. We intend to include&#xD;
      between 10 and 20 patients in this multicentric study. To analyse our results, we will use a&#xD;
      descriptive approach.&#xD;
&#xD;
      This protocole was validated by the Ethic Comitee of Brest in june 18, 2020&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Not yet recruiting</last_known_status>
  <start_date type="Anticipated">August 15, 2020</start_date>
  <completion_date type="Anticipated">January 13, 2021</completion_date>
  <primary_completion_date type="Anticipated">January 13, 2021</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Retrospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>presence of at least one dysautonomic sign</measure>
    <time_frame>one month</time_frame>
  </primary_outcome>
  <enrollment type="Anticipated">20</enrollment>
  <condition>MECP2-Related Severe Neonatal Encephalopathy</condition>
  <condition>Dysautonomia</condition>
  <condition>Masculinity</condition>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>non interventional study</intervention_name>
    <description>observational study</description>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        less than 16 years old or dead before 16 years old patients of masculin sex with a missense&#xD;
        or non-sens mutation in the MECP2 gene&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:less than 16 years old or dead before 16 years old patients of masculin&#xD;
        sex with a missense or non-sens mutation in the MECP2 gene -&#xD;
&#xD;
        Exclusion Criteria:patient under judicial protection or participation refusal by one of the&#xD;
        legal guardian&#xD;
&#xD;
        -&#xD;
      </textblock>
    </criteria>
    <gender>Male</gender>
    <gender_based>Yes</gender_based>
    <minimum_age>N/A</minimum_age>
    <maximum_age>16 Years</maximum_age>
  </eligibility>
  <overall_contact>
    <last_name>Juliette ROPARS</last_name>
    <phone>0298223657</phone>
    <email>juliette.ropars@chu-brest.fr</email>
  </overall_contact>
  <location>
    <facility>
      <name>CHU de Besançon</name>
      <address>
        <city>Besançon</city>
        <country>France</country>
      </address>
    </facility>
    <contact>
      <last_name>DELPLANCQ DELPLANCQ</last_name>
    </contact>
  </location>
  <location>
    <facility>
      <name>CHRU de Brest</name>
      <address>
        <city>Brest</city>
        <zip>29609</zip>
        <country>France</country>
      </address>
    </facility>
    <contact>
      <last_name>Juliette ROPARS</last_name>
      <email>juliette.ropars@chu-brest.fr</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>CHRU de Lille</name>
      <address>
        <city>Lille</city>
        <country>France</country>
      </address>
    </facility>
    <contact>
      <last_name>PETIT PETIT</last_name>
      <email>Florence.petit@chru-lille.fr</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Hospices Civiles de Lyon</name>
      <address>
        <city>Lyon</city>
        <country>France</country>
      </address>
    </facility>
    <contact>
      <last_name>Gaetan LESCA,</last_name>
      <email>gaetan.lesca@chu-lyon.fr</email>
    </contact>
    <investigator>
      <last_name>Vincent DESPORTES</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Dorothée VILLE</last_name>
      <role>Sub-Investigator</role>
    </investigator>
  </location>
  <location>
    <facility>
      <name>Hôpital de la Timone</name>
      <address>
        <city>Marseille</city>
        <country>France</country>
      </address>
    </facility>
    <contact>
      <last_name>Mathieu MILH</last_name>
    </contact>
  </location>
  <location>
    <facility>
      <name>CHU de NIMES</name>
      <address>
        <city>Nimes</city>
        <country>France</country>
      </address>
    </facility>
    <contact>
      <last_name>Marie FARMER,</last_name>
    </contact>
  </location>
  <location>
    <facility>
      <name>Hôpital Robert Debre</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
    <contact>
      <last_name>Catherine SARRET</last_name>
    </contact>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>July 2020</verification_date>
  <study_first_submitted>August 4, 2020</study_first_submitted>
  <study_first_submitted_qc>August 4, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">August 6, 2020</study_first_posted>
  <last_update_submitted>August 4, 2020</last_update_submitted>
  <last_update_submitted_qc>August 4, 2020</last_update_submitted_qc>
  <last_update_posted type="Actual">August 6, 2020</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Brain Diseases</mesh_term>
    <mesh_term>Primary Dysautonomias</mesh_term>
    <mesh_term>Autonomic Nervous System Diseases</mesh_term>
    <mesh_term>Rett Syndrome</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Yes</sharing_ipd>
    <ipd_description>All collected data that underlie results in a publication</ipd_description>
    <ipd_info_type>Study Protocol</ipd_info_type>
    <ipd_time_frame>Data will be available beginning six months and ending five years following the end study</ipd_time_frame>
    <ipd_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_access_criteria>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT04502199
org study id: MECP2BOYS (29BRC20.0182)
nct id: NCT04502199
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
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.
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
observational model: Cohort
time perspective: Retrospective
measure: presence of at least one dysautonomic sign
time frame: one month
intervention type: Other
intervention name: non interventional study
description: observational study
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: Male
gender based: Yes
minimum age: N/A
maximum age: 16 Years
last name: Juliette ROPARS
phone: 0298223657
email: juliette.ropars@chu-brest.fr
facility: 
contact: 
facility: 
contact: 
facility: 
contact: 
facility: 
contact: 
investigator: 
investigator: 
facility: 
contact: 
facility: 
contact: 
facility: 
contact: 
country: France
responsible party type: Sponsor
mesh term: Brain Diseases
mesh term: Primary Dysautonomias
mesh term: Autonomic Nervous System Diseases
mesh term: Rett Syndrome
sharing ipd: Yes
ipd description: All collected data that underlie results in a publication
ipd info type: Study Protocol
ipd time frame: Data will be available beginning six months and ending five years following the end study
ipd 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.