<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/NCT03017677</url>
  </required_header>
  <id_info>
    <org_study_id>16MMHIS127</org_study_id>
    <nct_id>NCT03017677</nct_id>
  </id_info>
  <brief_title>A Cross-specialty Collaboration Platform for Mucopolysaccharidosis Confirmative Diagnosis</brief_title>
  <official_title>The Establishment of a Cross-specialty Collaboration Platform Among Different Medical Specialties Based on High-risk Criteria for Mucopolysaccharidosis Confirmative Diagnosis</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Mackay Memorial Hospital</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>BioMarin Pharmaceutical</agency>
      <agency_class>Industry</agency_class>
    </collaborator>
  </sponsors>
  <source>Mackay Memorial Hospital</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      In this study the investigators is aimed to establish the MPS screening algorithm for high&#xD;
      risk patients who had medical history of previous surgical repair or presence of inguinal&#xD;
      and/or umbilical hernia with combination of any ENT related surgery or examination in Taiwan.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. In&#xD;
      individuals with MPS disorders, have deficiency or malfunction of specific lysosomal enzymes&#xD;
      leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or&#xD;
      glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These&#xD;
      accumulations may also be found in the respiratory system, liver, spleen, central nervous&#xD;
      system, blood, and bone marrow. This accumulation eventually causes progressive damage to&#xD;
      cells, tissues, and various organ systems of the body. Due to such an extreme variability in&#xD;
      clinical presentation as well as wide range of disease spectrum, but insufficient MPS disease&#xD;
      awareness in Taiwan, these resulted in a delay diagnosis or even miss diagnosis with other&#xD;
      clinical symptom thus patient often received inappropriate treatment. In order to address the&#xD;
      current issue of delay diagnosis among MPS patient, it is critical to develop a MPS screening&#xD;
      algorithm for high risk patients in Taiwan.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Not yet recruiting</last_known_status>
  <start_date type="Anticipated">January 1, 2018</start_date>
  <completion_date type="Anticipated">December 2020</completion_date>
  <primary_completion_date type="Anticipated">December 2020</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Other</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>To evaluate the positive screening rate of MPS subject (I, II VI and IV) under ENT screening algorithm in Taiwan</measure>
    <time_frame>3 Years</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>To evaluate the data collection of patient profile which include urine GAG data, disaccharides patterns, enzyme activity, genetic pattern and medical history of MPS (I, II VI and IV) patients.</measure>
    <time_frame>3 Years</time_frame>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">100</enrollment>
  <condition>Mucopolysaccharidoses</condition>
  <arm_group>
    <arm_group_label>Group</arm_group_label>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        High risk MPS patient&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  The subject is 0-20 years of age.&#xD;
&#xD;
          -  The subject had medical history of previous surgical hernia repair or presence of&#xD;
             inguinal and/or umbilical hernia.&#xD;
&#xD;
          -  The subject had or is scheduled for ENT surgery for any of the following, alone or in&#xD;
             combination with adenoidectomy, tonsillectomy, ear tube insertion/tympanostomy,&#xD;
             tracheotomy and bronchoscopy&#xD;
&#xD;
          -  The subject who is willing and able to provide written, signed informed consent, or by&#xD;
             a legally authorized representative after the nature of the study has been explained&#xD;
             and prior to any research-related procedures.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        -The subject has a current confirmed diagnosis of any MPS disorder.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>20 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_contact>
    <last_name>Hsiang-Yu Lin, MD</last_name>
    <phone>+886-2-2543-3535</phone>
    <phone_ext>3089-3090</phone_ext>
    <email>lxc46199@ms37.hinet.net</email>
  </overall_contact>
  <results_reference>
    <citation>Arn P, Bruce IA, Wraith JE, Travers H, Fallet S. Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol. 2015 Mar;124(3):198-205. doi: 10.1177/0003489414550154. Epub 2014 Sep 11.</citation>
    <PMID>25214650</PMID>
  </results_reference>
  <results_reference>
    <citation>Chuang CK, Lin HY, Wang TJ, Tsai CC, Liu HL, Lin SP. A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses. Orphanet J Rare Dis. 2014 Sep 2;9:135. doi: 10.1186/s13023-014-0135-3.</citation>
    <PMID>25178307</PMID>
  </results_reference>
  <results_reference>
    <citation>Chuang CK, Lin SP, Chung SF. Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis. Zhonghua Yi Xue Za Zhi (Taipei). 2001 Jan;64(1):15-22.</citation>
    <PMID>11310367</PMID>
  </results_reference>
  <results_reference>
    <citation>Lin HY, Chen MR, Chuang CK, Chen CP, Lin DS, Chien YH, Ke YY, Tsai FJ, Pan HP, Lin SJ, Hwu WL, Niu DM, Lee NC, Lin SP. Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S421-7. doi: 10.1007/s10545-010-9212-5. Epub 2010 Oct 6.</citation>
    <PMID>20924685</PMID>
  </results_reference>
  <results_reference>
    <citation>Lin HY, Chuang CK, Wang CH, Chien YH, Wang YM, Tsai FJ, Chou YY, Lin SJ, Pan HP, Niu DM, Hwu WL, Ke YY, Lin SP. Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series. Mol Genet Metab Rep. 2016 Apr 18;7:63-9. doi: 10.1016/j.ymgmr.2016.04.003. eCollection 2016 Jun.</citation>
    <PMID>27134829</PMID>
  </results_reference>
  <results_reference>
    <citation>Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors; Childs B, KinzlerKW, Vogelstein B, assoc. editors. The metabolic and molecular bases of inherited disease, 8th edition. New York: McGraw-Hill; 2001. pp 3421-52.</citation>
  </results_reference>
  <results_reference>
    <citation>Chuang CK, Lin SP. Neurochemical changes and therapeutical approaches in mucopolysaccharidoses. In: Sankar S, Michael A, Maheep B, editors. Neurochemistry of metabolic diseaseslysosomal storage diseases, phenylketouria and Canavan disease. Trivandrum, Kerala, India: Transworld Research Network; 2007. pp 1-20.</citation>
  </results_reference>
  <verification_date>December 2017</verification_date>
  <study_first_submitted>January 9, 2017</study_first_submitted>
  <study_first_submitted_qc>January 9, 2017</study_first_submitted_qc>
  <study_first_posted type="Estimate">January 11, 2017</study_first_posted>
  <last_update_submitted>December 29, 2017</last_update_submitted>
  <last_update_submitted_qc>December 29, 2017</last_update_submitted_qc>
  <last_update_posted type="Actual">January 3, 2018</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>Mucopolysaccharidoses</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/NCT03017677
org study id: 16MMHIS127
nct id: NCT03017677
lead sponsor: 
collaborator: 
has dmc: No
In this study the investigators is aimed to establish the MPS screening algorithm for high
      risk patients who had medical history of previous surgical repair or presence of inguinal
      and/or umbilical hernia with combination of any ENT related surgery or examination in Taiwan.
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. In
      individuals with MPS disorders, have deficiency or malfunction of specific lysosomal enzymes
      leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or
      glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These
      accumulations may also be found in the respiratory system, liver, spleen, central nervous
      system, blood, and bone marrow. This accumulation eventually causes progressive damage to
      cells, tissues, and various organ systems of the body. Due to such an extreme variability in
      clinical presentation as well as wide range of disease spectrum, but insufficient MPS disease
      awareness in Taiwan, these resulted in a delay diagnosis or even miss diagnosis with other
      clinical symptom thus patient often received inappropriate treatment. In order to address the
      current issue of delay diagnosis among MPS patient, it is critical to develop a MPS screening
      algorithm for high risk patients in Taiwan.
observational model: Other
time perspective: Prospective
measure: To evaluate the positive screening rate of MPS subject (I, II VI and IV) under ENT screening algorithm in Taiwan
time frame: 3 Years
measure: To evaluate the data collection of patient profile which include urine GAG data, disaccharides patterns, enzyme activity, genetic pattern and medical history of MPS (I, II VI and IV) patients.
time frame: 3 Years
arm group label: Group
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: 20 Years
healthy volunteers: No
last name: Hsiang-Yu Lin, MD
phone: +886-2-2543-3535
phone ext: 3089-3090
email: lxc46199@ms37.hinet.net
citation: Arn P, Bruce IA, Wraith JE, Travers H, Fallet S. Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol. 2015 Mar;124(3):198-205. doi: 10.1177/0003489414550154. Epub 2014 Sep 11.
PMID: 25214650
citation: Chuang CK, Lin HY, Wang TJ, Tsai CC, Liu HL, Lin SP. A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses. Orphanet J Rare Dis. 2014 Sep 2;9:135. doi: 10.1186/s13023-014-0135-3.
PMID: 25178307
citation: Chuang CK, Lin SP, Chung SF. Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis. Zhonghua Yi Xue Za Zhi (Taipei). 2001 Jan;64(1):15-22.
PMID: 11310367
citation: Lin HY, Chen MR, Chuang CK, Chen CP, Lin DS, Chien YH, Ke YY, Tsai FJ, Pan HP, Lin SJ, Hwu WL, Niu DM, Lee NC, Lin SP. Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S421-7. doi: 10.1007/s10545-010-9212-5. Epub 2010 Oct 6.
PMID: 20924685
citation: Lin HY, Chuang CK, Wang CH, Chien YH, Wang YM, Tsai FJ, Chou YY, Lin SJ, Pan HP, Niu DM, Hwu WL, Ke YY, Lin SP. Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series. Mol Genet Metab Rep. 2016 Apr 18;7:63-9. doi: 10.1016/j.ymgmr.2016.04.003. eCollection 2016 Jun.
PMID: 27134829
citation: Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors; Childs B, KinzlerKW, Vogelstein B, assoc. editors. The metabolic and molecular bases of inherited disease, 8th edition. New York: McGraw-Hill; 2001. pp 3421-52.
citation: Chuang CK, Lin SP. Neurochemical changes and therapeutical approaches in mucopolysaccharidoses. In: Sankar S, Michael A, Maheep B, editors. Neurochemistry of metabolic diseaseslysosomal storage diseases, phenylketouria and Canavan disease. Trivandrum, Kerala, India: Transworld Research Network; 2007. pp 1-20.
responsible party type: Sponsor
mesh term: Mucopolysaccharidoses
sharing ipd: No