<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/NCT04470713</url>
  </required_header>
  <id_info>
    <org_study_id>ID-085A301</org_study_id>
    <secondary_id>2019-01125</secondary_id>
    <nct_id>NCT04470713</nct_id>
  </id_info>
  <brief_title>Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2</brief_title>
  <acronym>RETRIEVE</acronym>
  <official_title>Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Idorsia Pharmaceuticals Ltd.</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Idorsia Pharmaceuticals Ltd.</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>
      This study is being conducted to better understand the natural course of GM1 gangliosidosis,&#xD;
      GM2 gangliosidoses and Gaucher disease Type 2 (GD2). Information is planned to be gathered on&#xD;
      at least 180 patients with GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type&#xD;
      2. Retrospective data collection is planned for at least 150 deceased patients (Group A).&#xD;
      Group B is for patients alive at the time of enrollment. In Group B it is planned to&#xD;
      prospectively collect more comprehensive data from at least 30 patients. The purpose of this&#xD;
      study is to collect relevant information for a adequate design of a potential subsequent&#xD;
      research program in these diseases.&#xD;
&#xD;
      In this study no therapy is being offered.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">July 31, 2019</start_date>
  <completion_date type="Actual">October 30, 2021</completion_date>
  <primary_completion_date type="Actual">October 30, 2021</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Case-Only</observational_model>
    <time_perspective>Other</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2</measure>
    <time_frame>2.5 years</time_frame>
  </primary_outcome>
  <other_outcome>
    <measure>Epidemiological data available from medical records</measure>
    <time_frame>2.5 years</time_frame>
    <description>Patients' medical record data such as date of diagnosis, the date of appearance of first neurological symptom, dates of gain or loss of specific abilities (e.g. ability to sit) will be collected, if available.</description>
  </other_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Actual">226</enrollment>
  <condition>GM1 Gangliosidosis</condition>
  <condition>GM2 Gangliosidosis</condition>
  <condition>Gaucher Disease, Type 2</condition>
  <condition>Tay-Sachs Disease</condition>
  <condition>AB Variant Gangliosidosis GM2</condition>
  <condition>Sandhoff Disease</condition>
  <arm_group>
    <arm_group_label>Group A - Retrospective data collection</arm_group_label>
    <description>Participants with a confirmed diagnosis, either deceased patients or patients whose survival status is not known at enrollment.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Group B - Prospective data collection</arm_group_label>
    <description>Participants who are alive at enrollment. Data collection is retrospective for the time between birth and enrollment visit, and data collection is prospective from the enrollment visit onwards. Visits are performed as per local standard of care.</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        This study will be conducted in hospitals/clinical centers managing pediatric patients with&#xD;
        GM1 gangliosidosis, GM2 gangliosidoses, and/or Gaucher Disease type 2 across several&#xD;
        countries in North America, South America, and Europe. In order to minimize the&#xD;
        patient/data selection bias, the centers are asked to include all eligible patients from&#xD;
        their center.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patient with either GM1 gangliosidosis, GM2 gangliosidoses (Tay-Sachs, Sandhoff, or AB&#xD;
             Variant), or Gaucher Disease Type 2.&#xD;
&#xD;
          -  Diagnosis confirmed by either biochemical (enzyme activity) or genetic testing, or&#xD;
             both.&#xD;
&#xD;
          -  Date of birth on or after 1 January 2000.&#xD;
&#xD;
          -  Onset of first neurological symptom within 24 months of age.&#xD;
&#xD;
          -  Informed consent of parent or legal guardian as required by local law.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>0 Months</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Clinical Trials</last_name>
    <role>Study Director</role>
    <affiliation>Idorsia Pharmaceuticals Ltd.</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Ann &amp; Robert H. Lurie Children's Hospital of Chicago</name>
      <address>
        <city>Chicago</city>
        <state>Illinois</state>
        <zip>60611</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Mayo Clinic - Rochester</name>
      <address>
        <city>Rochester</city>
        <state>Minnesota</state>
        <zip>55905</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Lysosomal and Rare Disorders Research and Treatment Center</name>
      <address>
        <city>Fairfax</city>
        <state>Virginia</state>
        <zip>22030</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>UCL Cliniques Universitaires Saint-Luc</name>
      <address>
        <city>Bruxelles</city>
        <zip>1020</zip>
        <country>Belgium</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Hospital de Clínicas de Porto Alegre - HCPA</name>
      <address>
        <city>Porto Alegre</city>
        <zip>90035-903</zip>
        <country>Brazil</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>AP-HP - Hôpitaux Universitaires Est Parisien</name>
      <address>
        <city>Paris</city>
        <zip>75012</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>SphinCS GmbH</name>
      <address>
        <city>Hochheim</city>
        <zip>65239</zip>
        <country>Germany</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Azienda Ospedaliero Universitaria Meyer</name>
      <address>
        <city>Florence</city>
        <zip>50139</zip>
        <country>Italy</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta</name>
      <address>
        <city>Milano</city>
        <zip>20133</zip>
        <country>Italy</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Centro Hospitalar Universitario Lisboa Norte, EPE</name>
      <address>
        <city>Lisboa</city>
        <zip>1649-035</zip>
        <country>Portugal</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Centro Universitario Hospitalar de São João, EPE</name>
      <address>
        <city>Porto</city>
        <zip>4200-319</zip>
        <country>Portugal</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Hospital Sant Joan de Deu</name>
      <address>
        <city>Barcelona</city>
        <zip>08950</zip>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Quirónsalud</name>
      <address>
        <city>Zaragoza</city>
        <zip>50006</zip>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Universitätsspital Bern Inselspital</name>
      <address>
        <city>Bern</city>
        <zip>CH-3010</zip>
        <country>Switzerland</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Universitäts-Kinderspital Zürich</name>
      <address>
        <city>Zürich</city>
        <zip>CH-8032</zip>
        <country>Switzerland</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>University Hospitals Birmingham NHS Foundation Trust</name>
      <address>
        <city>Birmingham</city>
        <zip>B4 6NH</zip>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Great Ormond Street Hospital for Children NHS Found. Trust</name>
      <address>
        <city>London</city>
        <zip>WC1N 3JH</zip>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Belgium</country>
    <country>Brazil</country>
    <country>France</country>
    <country>Germany</country>
    <country>Italy</country>
    <country>Portugal</country>
    <country>Spain</country>
    <country>Switzerland</country>
    <country>United Kingdom</country>
    <country>United States</country>
  </location_countries>
  <verification_date>November 2021</verification_date>
  <study_first_submitted>July 10, 2020</study_first_submitted>
  <study_first_submitted_qc>July 10, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 14, 2020</study_first_posted>
  <last_update_submitted>November 5, 2021</last_update_submitted>
  <last_update_submitted_qc>November 5, 2021</last_update_submitted_qc>
  <last_update_posted type="Actual">November 8, 2021</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>Gaucher Disease</mesh_term>
    <mesh_term>Gangliosidoses</mesh_term>
    <mesh_term>Tay-Sachs Disease</mesh_term>
    <mesh_term>Gangliosidosis, GM1</mesh_term>
    <mesh_term>Gangliosidoses, GM2</mesh_term>
    <mesh_term>Sandhoff Disease</mesh_term>
    <mesh_term>Tay-Sachs Disease, AB Variant</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </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/NCT04470713
org study id: ID-085A301
secondary id: 2019-01125
nct id: NCT04470713
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
This study is being conducted to better understand the natural course of GM1 gangliosidosis,
      GM2 gangliosidoses and Gaucher disease Type 2 (GD2). Information is planned to be gathered on
      at least 180 patients with GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type
      2. Retrospective data collection is planned for at least 150 deceased patients (Group A).
      Group B is for patients alive at the time of enrollment. In Group B it is planned to
      prospectively collect more comprehensive data from at least 30 patients. The purpose of this
      study is to collect relevant information for a adequate design of a potential subsequent
      research program in these diseases.

      In this study no therapy is being offered.
observational model: Case-Only
time perspective: Other
measure: Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2
time frame: 2.5 years
measure: Epidemiological data available from medical records
time frame: 2.5 years
description: Patients' medical record data such as date of diagnosis, the date of appearance of first neurological symptom, dates of gain or loss of specific abilities (e.g. ability to sit) will be collected, if available.
arm group label: Group A - Retrospective data collection
description: Participants with a confirmed diagnosis, either deceased patients or patients whose survival status is not known at enrollment.
arm group label: Group B - Prospective data collection
description: Participants who are alive at enrollment. Data collection is retrospective for the time between birth and enrollment visit, and data collection is prospective from the enrollment visit onwards. Visits are performed as per local standard of care.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 0 Months
maximum age: N/A
healthy volunteers: No
last name: Clinical Trials
role: Study Director
affiliation: Idorsia Pharmaceuticals Ltd.
facility: 
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country: Belgium
country: Brazil
country: France
country: Germany
country: Italy
country: Portugal
country: Spain
country: Switzerland
country: United Kingdom
country: United States
responsible party type: Sponsor
mesh term: Gaucher Disease
mesh term: Gangliosidoses
mesh term: Tay-Sachs Disease
mesh term: Gangliosidosis, GM1
mesh term: Gangliosidoses, GM2
mesh term: Sandhoff Disease
mesh term: Tay-Sachs Disease, AB Variant
sharing ipd: No