<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/NCT01711606</url>
  </required_header>
  <id_info>
    <org_study_id>CAFQ056BDE-EPI-01</org_study_id>
    <nct_id>NCT01711606</nct_id>
  </id_info>
  <brief_title>EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes</brief_title>
  <acronym>EXPLAIN</acronym>
  <official_title>EXPLAIN - FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Novartis Pharmaceuticals</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Novartis</source>
  <brief_summary>
    <textblock>
      This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to&#xD;
      evaluate characteristics, management and patient and caregiver-related outcomes the quality&#xD;
      of life of Families and patients with FXS and to collect epidemiological and health economic&#xD;
      data.&#xD;
&#xD;
        -  EXPLAIN will report current and comprehensive data onEpidemiology data on fragile X&#xD;
           syndrome&#xD;
&#xD;
        -  Characterisation of the phenotype of FXS patients&#xD;
&#xD;
        -  Description of patient characteristics (demographics, family history, comorbidity,&#xD;
           education, working situations, care situations, insurance status)&#xD;
&#xD;
        -  Documentation of therapeutic interventions&#xD;
&#xD;
        -  Recording and assessment of psychosocial parameters (possibly also inclusion of family&#xD;
           members, carers)&#xD;
&#xD;
        -  quality of life of the carer and if possible the patient&#xD;
&#xD;
        -  Health economic parameters and consumption of resources&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Terminated</overall_status>
  <start_date>March 2013</start_date>
  <completion_date type="Actual">January 2016</completion_date>
  <primary_completion_date type="Actual">January 2016</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>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status)</measure>
    <time_frame>3 years</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>Epidemiology data on Fragile X Syndrome (FXS)</measure>
    <time_frame>3 years</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Health-economic parameters and consumption of resources</measure>
    <time_frame>3 years</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Therapeutic interventions and their application rationale</measure>
    <time_frame>3 Years</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Psychosocial parameters (poss. also inclusion of family members, caregivers)</measure>
    <time_frame>3 years</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Quality of life of the caregiver and possibly the patient</measure>
    <time_frame>3 years</time_frame>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">75</enrollment>
  <condition>Fragile-X Syndrome</condition>
  <arm_group>
    <arm_group_label>unselected Fragile-X patients</arm_group_label>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        Patients with fragile-X Syndrome&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patients with FXS as confirmed by genetic testing&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  none&#xD;
&#xD;
          -  Other protocol-defined inclusion/exclusion criteria may apply&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Frank Hässler, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Gehlsheimer Straße 20, D- 18147 Rostock</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Novartis Investigative site</name>
      <address>
        <city>Nuremberg</city>
        <country>Germany</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Germany</country>
  </location_countries>
  <verification_date>March 2016</verification_date>
  <study_first_submitted>October 18, 2012</study_first_submitted>
  <study_first_submitted_qc>October 19, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">October 22, 2012</study_first_posted>
  <last_update_submitted>March 2, 2016</last_update_submitted>
  <last_update_submitted_qc>March 2, 2016</last_update_submitted_qc>
  <last_update_posted type="Estimate">March 3, 2016</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Fragile-X Syndrome</keyword>
  <keyword>registry</keyword>
  <keyword>non-interventional trial</keyword>
  <keyword>patient-related outcome study</keyword>
  <keyword>drug utilization</keyword>
  <keyword>effectiveness</keyword>
  <keyword>treatment patterns</keyword>
  <keyword>patient characteristics under real life conditions</keyword>
  <keyword>quality of life</keyword>
  <keyword>economics</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Fragile X Syndrome</mesh_term>
  </condition_browse>
  <!-- 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/NCT01711606
org study id: CAFQ056BDE-EPI-01
nct id: NCT01711606
lead sponsor: 
This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to
      evaluate characteristics, management and patient and caregiver-related outcomes the quality
      of life of Families and patients with FXS and to collect epidemiological and health economic
      data.

        -  EXPLAIN will report current and comprehensive data onEpidemiology data on fragile X
           syndrome

        -  Characterisation of the phenotype of FXS patients

        -  Description of patient characteristics (demographics, family history, comorbidity,
           education, working situations, care situations, insurance status)

        -  Documentation of therapeutic interventions

        -  Recording and assessment of psychosocial parameters (possibly also inclusion of family
           members, carers)

        -  quality of life of the carer and if possible the patient

        -  Health economic parameters and consumption of resources
observational model: Cohort
time perspective: Prospective
measure: Patient characteristics (demographics, family history, comorbidities, education, working situation, care situation, insurance status)
time frame: 3 years
measure: Epidemiology data on Fragile X Syndrome (FXS)
time frame: 3 years
measure: Health-economic parameters and consumption of resources
time frame: 3 years
measure: Therapeutic interventions and their application rationale
time frame: 3 Years
measure: Psychosocial parameters (poss. also inclusion of family members, caregivers)
time frame: 3 years
measure: Quality of life of the caregiver and possibly the patient
time frame: 3 years
arm group label: unselected Fragile-X patients
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Frank Hässler, MD
role: Principal Investigator
affiliation: Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Gehlsheimer Straße 20, D- 18147 Rostock
facility: 
country: Germany
responsible party type: Sponsor
mesh term: Fragile X Syndrome