<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/NCT04460950</url>
  </required_header>
  <id_info>
    <org_study_id>AML2120</org_study_id>
    <nct_id>NCT04460950</nct_id>
  </id_info>
  <brief_title>Observational Study for the Evaluation of Incidence of Familial AML/MDSs in Patients With Myeloid Neoplasms</brief_title>
  <official_title>A Retrospective and Prospective Multicentre Observational Study for the Evaluation of Incidence of Familial AML/MDSs in Patients With Myeloid Neoplasms (AML/MDS)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Gruppo Italiano Malattie EMatologiche dell'Adulto</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Gruppo Italiano Malattie EMatologiche dell'Adulto</source>
  <brief_summary>
    <textblock>
      Observational study aimed at evaluating the incidence of familial AML/MDSs in patients with&#xD;
      de novo MDSs or AML with almost one relative affected by hematologic neoplasms and/or other&#xD;
      cancers at young age (&lt; 40 years)&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This is a multicenter, retrospective and prospective, observational study aims to collect&#xD;
      clinical information on patients with familial AML/MDSs from January 2014 to December 2022.&#xD;
      No intervention is expected.&#xD;
&#xD;
      The purpose of this study is to identify and characterize the patients with familial MDSs or&#xD;
      AML (i.e. with relatives affected by hematologic neoplasms and/or other cancers at young age&#xD;
      (&lt; 40 years)) or presence of signs, symptoms or laboratory tests compatible with one of the&#xD;
      known syndromes with germinal susceptibility to AML/MDSs.&#xD;
&#xD;
      In order to estimate the incidence of familial AML/MDSs, a survey will be sent every year to&#xD;
      all participating sites to collect only the number of the all diagnosis of AML/MDS. All&#xD;
      patients will be followed until December 2023 in order to have at least 1 year of&#xD;
      observation.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">December 16, 2020</start_date>
  <completion_date type="Anticipated">March 2024</completion_date>
  <primary_completion_date type="Anticipated">March 2024</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>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Incidence of familial AML/MDSs</measure>
    <time_frame>at 1 year</time_frame>
    <description>Evaluation of incidence of familial AML/MDSs in patients with de novo MDSs or AML with almost one relative affected by hematologic neoplasms and/or other cancers at young age (&lt; 40 years). The incidence of familial AML/MDSs will be evaluated by means of number of diagnosis of familial AML/MDSs on the number of all diagnosis of AML/MDS between January 2014 and December 2022.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Hematological characteristics of familial AML/MDSs</measure>
    <time_frame>at 1 year</time_frame>
    <description>Evaluation of hematological characteristics of patients with familial AML/MDS.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Distribution of familial hematologic neoplasms and/or other cancers</measure>
    <time_frame>at 1 year</time_frame>
    <description>Type and rate of familial hematologic neoplasms and/or other cancers</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Incidence of transplantation</measure>
    <time_frame>at 1 year</time_frame>
    <description>Outcome of transplant in patients with familial AML/MDS</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Survival Distribution</measure>
    <time_frame>at 1 year</time_frame>
    <description>Overall Survival (OS) and Progression Free Survival (PFS)</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Standardized Mortality Ratio (SMR)</measure>
    <time_frame>at 1 year</time_frame>
    <description>SMR to compare the survival risk in patients with familial AML/MDS with the risk in the Italian general population</description>
  </secondary_outcome>
  <enrollment type="Anticipated">237</enrollment>
  <condition>Acute Myeloid Leukemia</condition>
  <condition>Familial Acute Myeloid Leukemia</condition>
  <condition>Myelodysplastic Syndromes</condition>
  <eligibility>
    <study_pop>
      <textblock>
        All patients diagnoses with AML and MDSs from January 2014 to December 2022 will be&#xD;
        registered. Study population will include patients with MDSs or AML with at least one&#xD;
        family member of first or second degree affected by myeloid neoplasm or other hematological&#xD;
        malignancy, or by solid tumors with onset at age &lt; 40 years.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patient age &gt; 18 years old&#xD;
&#xD;
          -  Diagnosis of AML or MDSs from January 2014 to December 2022&#xD;
&#xD;
          -  Suspected familiarity for myeloid neoplasm: at least one family member of first or&#xD;
             second degree affected by myeloid neoplasm or other hematological malignancy, or by&#xD;
             solid tumors with onset at age &lt; 40 years or presence of signs, symptoms or laboratory&#xD;
             tests compatible with one of the known syndromes with germinal susceptibility to&#xD;
             AML/MDSs&#xD;
&#xD;
          -  Signed written informed consent according to ICH/EU/GCP and national local laws.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  none&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_contact>
    <last_name>Paola Fazi</last_name>
    <phone>0670390528</phone>
    <email>p.fazi@gimema.it</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Enrico Crea</last_name>
    <phone>0670390514</phone>
    <email>e.crea@gimema.it</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Aon Ss. Antonio E Biagio E C. Arrigo - Alessandria - Soc Ematologia</name>
      <address>
        <city>Alessandria</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Lorella Depaoli</last_name>
      <email>ldepaoli@ospedale.al.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Aou Ospedali Riuniti &quot;Umberto I - G.M. Lancisi - G. Salesi&quot;- Ancona - Sod Clinica Ematologica</name>
      <address>
        <city>Ancona</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Attilio C Olivieri</last_name>
      <email>a.olivieri@univpm.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Ao Di Rilievo Nazionale E Di Alta Specialità &quot;San Giuseppe Moscati&quot; - Avellino - Uoc Ematologia Con Unità Di Trapianto</name>
      <address>
        <city>Avellino</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Ilenia Manfra</last_name>
      <email>ilenia.manfra89@gmail.com</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Asl Caserta, Presidio Ospedaliero S.G.Moscati - Aversa - Uo Oncoematologia</name>
      <address>
        <city>Aversa</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Clelia Criscuolo</last_name>
      <email>clelia.criscuolo@libero.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Aou Di Bologna - Policlinico S. Orsola-Malpighi - Uoc Ematologia</name>
      <address>
        <city>Bologna</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Stefania Paolini</last_name>
      <email>stefania.paolini@unibo.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Asst Degli Spedali Civili Di Brescia - Ssvd Centro Trapianti Midollo Per Adulti - Cattedra Di Ematologia</name>
      <address>
        <city>Brescia</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Domenico Russo</last_name>
    </contact>
  </location>
  <location>
    <facility>
      <name>Asst Degli Spedali Civili Di Brescia - Uo Ematologia</name>
      <address>
        <city>Brescia</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Alessandria Tucci</last_name>
      <email>alessandra.tucci@asst-spedalicivili.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Ao Brotzu, Presidio Ospedaliero A. Businco - Cagliari - Sc Ematologia E Ctmo</name>
      <address>
        <city>Cagliari</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Federica Pilo</last_name>
    </contact>
  </location>
  <location>
    <facility>
      <name>Aou Ospedali Riuniti - Foggia - Uoc Ematologia</name>
      <address>
        <city>Foggia</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Celestino Ferradina</last_name>
      <email>ferrandina10@gmail.com</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Asl Lecce, Ospedale 'V. Fazzi' - Uo Ematologia</name>
      <address>
        <city>Lecce</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Nicola Di Renzo</last_name>
      <email>direnzo.ematolecce@gmail.com</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Ao Ospedali Riuniti &quot;Papardo Piemonte&quot; - Po Papardo - Messina - Sc Ematologia</name>
      <address>
        <city>Messina</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Donato Mannina</last_name>
      <email>donamanni@gmail.com</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Asst Grande Ospedale Metropolitano Niguarda - Milano - Sc Ematologia</name>
      <address>
        <city>Milano</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Rosa Greco</last_name>
      <email>rosa.greco@ospedaleniguarda.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Fondazione Irccs Ca' Granda, Ospedale Maggiore Policlinico - Milano - Ematologia - Padiglione Marcora</name>
      <address>
        <city>Milano</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Nicola Fracchiolla</last_name>
      <email>ns.fracchiolla@gmail.com</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Aou San Luigi Gonzaga - Orbassano - Scdu Ematologia Generale E Oncoematologia</name>
      <address>
        <city>Orbassano</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Daniela E Cilloni</last_name>
      <phone>3332818086</phone>
      <email>daniela.cilloni@unito.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Asl Salerno, Presidio Ospedaliero Tortora Pagani - Ematologia</name>
      <address>
        <city>Pagani</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Catello Califano</last_name>
      <email>c.califano@aslsalerno.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Aou Policlinico P. Giaccone - Palermo - Uo Ematologia</name>
      <address>
        <city>Palermo</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Maria Enza U Mitra</last_name>
      <email>memitra@yahoo.com</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Aou Di Parma - Sc Ematologia E Centro Trapianti Midollo Osseo</name>
      <address>
        <city>Parma</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
  </location>
  <location>
    <facility>
      <name>Ao Di Perugia, Ospedale S. Maria Della Misericordia - Ematologia E Trapianto Midollo Osseo</name>
      <address>
        <city>Perugia</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Cristina Mecucci</last_name>
      <phone>07557833808</phone>
      <email>cristina.mecucci@unipg.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Aou Pisana - Uo Ematologia Universitaria</name>
      <address>
        <city>Pisa</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Sara Galimberti</last_name>
      <phone>050993486</phone>
      <email>sara.galimberti@med.unipi.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Ausl Di Reggio Emilia - Arcispedale Santa Maria Nuova, Irccs - Sc Ematologia</name>
      <address>
        <city>Reggio Emilia</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Isabella Capodanno</last_name>
      <email>isabella.capodanno@ausl.re.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Ausl Della Romagna, Ospedale &quot;Infermi&quot; - Rimini - Uo Ematologia</name>
      <address>
        <city>Rimini</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Giulia Tolomelli</last_name>
      <email>giulia.tolomelli@auslromagna.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Asl Roma 2, Ospedale S. Eugenio- Ospedale S.Eugenio - Uoc Ematologia</name>
      <address>
        <city>Roma</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Pasquale Niscola</last_name>
      <email>pniscola@gmail.com</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Fondazione Policlinico Universitario Agostino Gemelli Irccs - Roma - Area Ematologica</name>
      <address>
        <city>Roma</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Simona Sica</last_name>
      <email>simona.sica@Unicatt.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Ente Ecclesiastico Casa Sollievo Della Sofferenza - San Giovanni Rotondo - Ematologia</name>
      <address>
        <city>San Giovanni Rotondo</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Nicola Cascavilla</last_name>
      <email>n.cascavilla@operapadrepio.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Aou Di Sassari - Cliniche Universitarie - Stabilimento Cliniche Di San Pietro - Uoc Ematologia</name>
      <address>
        <city>Sassari</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Claudio U Fozza</last_name>
      <phone>3397560639</phone>
      <email>cfozza@uniss.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Aou Città Della Salute E Della Scienza, Ospedale S. Giovanni Battista Molinette - Torino - Sc Ematologia - Università Degli Studi Di Torino</name>
      <address>
        <city>Torino</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Luisa Giaccone</last_name>
      <email>luisa.giaccone@unito.it</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Asui Di Udine - Presidio Ospedaliero &quot;Santa Maria Della Misericordia&quot; - Clinica Ematologica</name>
      <address>
        <city>Udine</city>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Anna C Candoni</last_name>
      <email>candoni.anna@aoud.sanita.fvg.it</email>
    </contact>
  </location>
  <location_countries>
    <country>Italy</country>
  </location_countries>
  <verification_date>July 2022</verification_date>
  <study_first_submitted>June 25, 2020</study_first_submitted>
  <study_first_submitted_qc>July 1, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 8, 2020</study_first_posted>
  <last_update_submitted>July 19, 2022</last_update_submitted>
  <last_update_submitted_qc>July 19, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">July 20, 2022</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>Leukemia</mesh_term>
    <mesh_term>Neoplasms</mesh_term>
    <mesh_term>Leukemia, Myeloid</mesh_term>
    <mesh_term>Leukemia, Myeloid, Acute</mesh_term>
    <mesh_term>Myelodysplastic Syndromes</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/NCT04460950
org study id: AML2120
nct id: NCT04460950
lead sponsor: 
Observational study aimed at evaluating the incidence of familial AML/MDSs in patients with
      de novo MDSs or AML with almost one relative affected by hematologic neoplasms and/or other
      cancers at young age (< 40 years)
This is a multicenter, retrospective and prospective, observational study aims to collect
      clinical information on patients with familial AML/MDSs from January 2014 to December 2022.
      No intervention is expected.

      The purpose of this study is to identify and characterize the patients with familial MDSs or
      AML (i.e. with relatives affected by hematologic neoplasms and/or other cancers at young age
      (< 40 years)) or presence of signs, symptoms or laboratory tests compatible with one of the
      known syndromes with germinal susceptibility to AML/MDSs.

      In order to estimate the incidence of familial AML/MDSs, a survey will be sent every year to
      all participating sites to collect only the number of the all diagnosis of AML/MDS. All
      patients will be followed until December 2023 in order to have at least 1 year of
      observation.
observational model: Case-Only
time perspective: Prospective
measure: Incidence of familial AML/MDSs
time frame: at 1 year
description: Evaluation of incidence of familial AML/MDSs in patients with de novo MDSs or AML with almost one relative affected by hematologic neoplasms and/or other cancers at young age (< 40 years). The incidence of familial AML/MDSs will be evaluated by means of number of diagnosis of familial AML/MDSs on the number of all diagnosis of AML/MDS between January 2014 and December 2022.
measure: Hematological characteristics of familial AML/MDSs
time frame: at 1 year
description: Evaluation of hematological characteristics of patients with familial AML/MDS.
measure: Distribution of familial hematologic neoplasms and/or other cancers
time frame: at 1 year
description: Type and rate of familial hematologic neoplasms and/or other cancers
measure: Incidence of transplantation
time frame: at 1 year
description: Outcome of transplant in patients with familial AML/MDS
measure: Survival Distribution
time frame: at 1 year
description: Overall Survival (OS) and Progression Free Survival (PFS)
measure: Standardized Mortality Ratio (SMR)
time frame: at 1 year
description: SMR to compare the survival risk in patients with familial AML/MDS with the risk in the Italian general population
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Paola Fazi
phone: 0670390528
email: p.fazi@gimema.it
last name: Enrico Crea
phone: 0670390514
email: e.crea@gimema.it
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
country: Italy
responsible party type: Sponsor
mesh term: Leukemia
mesh term: Neoplasms
mesh term: Leukemia, Myeloid
mesh term: Leukemia, Myeloid, Acute
mesh term: Myelodysplastic Syndromes