xml: <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/NCT05992532</url>
    </required_header>
    <id_info>
      <org_study_id>GammaGA</org_study_id>
      <nct_id>NCT05992532</nct_id>
    </id_info>
    <brief_title>GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma</brief_title>
    <official_title>GammaGA: Study of the Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>Fundación Española de Hematología y Hemoterapía</agency>
        <agency_class>Other</agency_class>
      </lead_sponsor>
    </sponsors>
    <source>Fundación Española de Hematología y Hemoterapía</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>
        The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes&#xD;
        of referral of these patients to pediatric gastroenterology and oncohematology clinics, and&#xD;
        adult internal medicine and hematology. The study and management of splenomegaly is well&#xD;
        described among the different medical specialties to which these patients arrive. After the&#xD;
        application of the different algorithms and the different studies that are carried out, these&#xD;
        splenomegaly are identified as being of hepatic, infectious, inflammatory, congestive,&#xD;
        hematological origin and primary causes. Despite these studies of splenomegaly, approximately&#xD;
        10-15% of these patients still remain undiagnosed.&#xD;
  &#xD;
        Several studies have suggested that there is an increased frequency of MGUS (monoclonal&#xD;
        gammopathy of undetermined significance) and/or multiple myeloma (MM) among Gaucher patients.&#xD;
        Regarding ASMD (Acid Sphingomyelinase Deficiency), few studies have been published but it&#xD;
        seems the 21% of patient with ASMD has MGUS and 15% ASMD patients have MGUS. Moreover,&#xD;
        patients with MGUS and Gaucher disease (GD) are at increased risk of developing MM.&#xD;
  &#xD;
        The objective of the present study is to increase the diagnostic sensitivity of these unknown&#xD;
        splenomegalys, or unknown splenomegaly patients with MGUS or multiple myeoloma who remain in&#xD;
        consultations, using the usual diagnostic clinical procedures of unknown splenomegaly and&#xD;
        unknown splenectomy patients, where we include the extraction of a blood sample for dry drop&#xD;
        test (DBS), where the determination of the enzymatic/genetic activity will be carried out for&#xD;
        Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) , analysis of LisoGl1 and&#xD;
        LisoSM.&#xD;
      </textblock>
    </brief_summary>
    <overall_status>Recruiting</overall_status>
    <start_date type="Actual">May 30, 2023</start_date>
    <completion_date type="Anticipated">March 2026</completion_date>
    <primary_completion_date type="Anticipated">June 2025</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>Cross-Sectional</time_perspective>
    </study_design_info>
    <primary_outcome>
      <measure>Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)</measure>
      <time_frame>36 months</time_frame>
      <description>Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)</description>
    </primary_outcome>
    <enrollment type="Anticipated">210</enrollment>
    <condition>Gaucher Disease</condition>
    <condition>Acid SphingoMyelinase Deficiency</condition>
    <eligibility>
      <study_pop>
        <textblock>
          -  Adult patients of both sexes.&#xD;
  &#xD;
            -  Patients who present signs, assessed instrumentally or with laboratory tests, of&#xD;
               unknown splenomegaly, defined as a palpable spleen ≥ 1cm from the costal margin or&#xD;
               diagnosed by ultrasound, magnetic resonance imaging (MRI) or computed tomography (CT)&#xD;
               of the spleen.&#xD;
  &#xD;
            -  Splenectomy patient with no diagnosis of the origin of the splenomegaly of unknown&#xD;
               origin.&#xD;
  &#xD;
            -  Patients with splenomegaly or splenectomy without diagnosis but identified with ITP&#xD;
               (Idiopathic Thrombocytopenic Purpura)&#xD;
        </textblock>
      </study_pop>
      <sampling_method>Non-Probability Sample</sampling_method>
      <criteria>
        <textblock>
          Inclusion Criteria:&#xD;
  &#xD;
            -  Adult patients of both sexes.&#xD;
  &#xD;
            -  Patients who present signs, assessed instrumentally or with laboratory tests, of&#xD;
               unknown splenomegaly, defined as a palpable spleen ≥ 1cm from the costal margin or&#xD;
               diagnosed by ultrasound, magnetic resonance imaging (MRI) or computed tomography (CT)&#xD;
               of the spleen.&#xD;
  &#xD;
            -  Splenectomy patient with no diagnosis of the origin of the splenomegaly of unknown&#xD;
               origin.&#xD;
  &#xD;
            -  Patients with splenomegaly or splenectomy without diagnosis but identified with ITP&#xD;
               (Idiopathic Thrombocytopenic Purpura)&#xD;
  &#xD;
            -  Patient who gives his consent to participate in the study.&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
            -  Splenomegaly due to portal hypertension (documented by abdominal ultrasound or other&#xD;
               instrumental test) due to liver disease&#xD;
  &#xD;
            -  Hematologic malignancy [documented by positive physical exam + blood smear or fine&#xD;
               needle aspiration (FNA) or bone marrow biopsy]&#xD;
  &#xD;
            -  Hemolytic anemia and/or thalassemia&#xD;
  &#xD;
            -  Patients who cannot meet the requirements of the protocol due to mental and/or&#xD;
               cognitive alterations, uncooperative patients, educational limitations and&#xD;
               understanding of written language&#xD;
  &#xD;
            -  Refusal of the patient to participate in the study&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>18 Years</minimum_age>
      <maximum_age>99 Years</maximum_age>
    </eligibility>
    <overall_contact>
      <last_name>Albert Pérez Montaña, MD</last_name>
      <phone>871206268</phone>
      <email>albert.perez@ssib.es</email>
    </overall_contact>
    <location>
      <facility>
        <name>Hospital del Bierzo</name>
        <address>
          <city>Ponferrada</city>
          <state>León</state>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Erik del Cabo, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hospital Alvaro Cunqueiro</name>
        <address>
          <city>Vigo</city>
          <state>Pontevedra</state>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Carmen Albo López, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hospital Alcañiz</name>
        <address>
          <city>Alcañiz</city>
          <state>Teruel</state>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Andrés Medinaveitia, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hospital Clínico Universitario de Valladolid</name>
        <address>
          <city>Valladolid</city>
          <state>Zaragoza</state>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Carmen Pérez Martínez, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hospital Universitario Torrecárdenas</name>
        <address>
          <city>Almería</city>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Alejandro Ponce Navarro, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hospital Universitario de Burgos</name>
        <address>
          <city>Burgos</city>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Beatriz Cuevas, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hospital Universitario Virgen de las Nieves</name>
        <address>
          <city>Granada</city>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Antonio Cruz, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hospital Arnau de Vilanova</name>
        <address>
          <city>Lleida</city>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Antonio García Guiñón, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hospital Fundación Jiménez Díaz</name>
        <address>
          <city>Madrid</city>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Pilar Llamas Sillero, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Hospital Regional Universitario de Málaga</name>
        <address>
          <city>Málaga</city>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Alejandro Contento Gonzalo, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Complejo Hospitalario Universitario de Orense</name>
        <address>
          <city>Orense</city>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>José Ángel Méndez Sánchez, MD</last_name>
      </contact>
    </location>
    <location>
      <facility>
        <name>Complejo Asistencial de Ávila</name>
        <address>
          <city>Ávila</city>
          <country>Spain</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Abelardo Bárez García, MD</last_name>
      </contact>
    </location>
    <location_countries>
      <country>Spain</country>
    </location_countries>
    <verification_date>August 2023</verification_date>
    <study_first_submitted>August 8, 2023</study_first_submitted>
    <study_first_submitted_qc>August 8, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">August 15, 2023</study_first_posted>
    <last_update_submitted>August 8, 2023</last_update_submitted>
    <last_update_submitted_qc>August 8, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">August 15, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Sponsor</responsible_party_type>
    </responsible_party>
    <keyword>Gaucher disease, acid sphingomyelinase deficiency, GD, ASMD, DBS, splenomegaly, monoclonal gammopathies, multiple myeloma</keyword>
    <condition_browse>
      <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
      <mesh_term>Multiple Myeloma</mesh_term>
      <mesh_term>Neoplasms, Plasma Cell</mesh_term>
      <mesh_term>Gaucher Disease</mesh_term>
      <mesh_term>Niemann-Pick Disease, Type A</mesh_term>
      <mesh_term>Niemann-Pick Diseases</mesh_term>
      <mesh_term>Niemann-Pick Disease, Type C</mesh_term>
      <mesh_term>Paraproteinemias</mesh_term>
      <mesh_term>Monoclonal Gammopathy of Undetermined Significance</mesh_term>
      <mesh_term>Deficiency Diseases</mesh_term>
    </condition_browse>
    <!-- Results have not yet been posted for this study                                          -->
  </clinical_study>
  
  
text: 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/NCT05992532
  org study id: GammaGA
  nct id: NCT05992532
  lead sponsor: 
  has dmc: No
  is fda regulated drug: No
  is fda regulated device: No
  The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes
        of referral of these patients to pediatric gastroenterology and oncohematology clinics, and
        adult internal medicine and hematology. The study and management of splenomegaly is well
        described among the different medical specialties to which these patients arrive. After the
        application of the different algorithms and the different studies that are carried out, these
        splenomegaly are identified as being of hepatic, infectious, inflammatory, congestive,
        hematological origin and primary causes. Despite these studies of splenomegaly, approximately
        10-15% of these patients still remain undiagnosed.
  
        Several studies have suggested that there is an increased frequency of MGUS (monoclonal
        gammopathy of undetermined significance) and/or multiple myeloma (MM) among Gaucher patients.
        Regarding ASMD (Acid Sphingomyelinase Deficiency), few studies have been published but it
        seems the 21% of patient with ASMD has MGUS and 15% ASMD patients have MGUS. Moreover,
        patients with MGUS and Gaucher disease (GD) are at increased risk of developing MM.
  
        The objective of the present study is to increase the diagnostic sensitivity of these unknown
        splenomegalys, or unknown splenomegaly patients with MGUS or multiple myeoloma who remain in
        consultations, using the usual diagnostic clinical procedures of unknown splenomegaly and
        unknown splenectomy patients, where we include the extraction of a blood sample for dry drop
        test (DBS), where the determination of the enzymatic/genetic activity will be carried out for
        Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) , analysis of LisoGl1 and
        LisoSM.
  observational model: Cohort
  time perspective: Cross-Sectional
  measure: Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)
  time frame: 36 months
  description: Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)
  study pop: 
  sampling method: Non-Probability Sample
  criteria: 
  gender: All
  minimum age: 18 Years
  maximum age: 99 Years
  last name: Albert Pérez Montaña, MD
  phone: 871206268
  email: albert.perez@ssib.es
  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: 
  country: Spain
  responsible party type: Sponsor
  mesh term: Multiple Myeloma
  mesh term: Neoplasms, Plasma Cell
  mesh term: Gaucher Disease
  mesh term: Niemann-Pick Disease, Type A
  mesh term: Niemann-Pick Diseases
  mesh term: Niemann-Pick Disease, Type C
  mesh term: Paraproteinemias
  mesh term: Monoclonal Gammopathy of Undetermined Significance
  mesh term: Deficiency Diseases