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A Cross-specialty Collaboration Platform for Mucopolysaccharidosis Confirmative Diagnosis

Sponsor
Mackay Memorial Hospital (Other)
Overall Status
Unknown status
CT.gov ID
NCT03017677
Collaborator
BioMarin Pharmaceutical (Industry)
100
Enrollment
35
Anticipated Duration (Months)

Study Details

Study Description

Brief Summary

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.

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    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.

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    100 participants
    Observational Model:
    Other
    Time Perspective:
    Prospective
    Official Title:
    The Establishment of a Cross-specialty Collaboration Platform Among Different Medical Specialties Based on High-risk Criteria for Mucopolysaccharidosis Confirmative Diagnosis
    Anticipated Study Start Date :
    Jan 1, 2018
    Anticipated Primary Completion Date :
    Dec 1, 2020
    Anticipated Study Completion Date :
    Dec 1, 2020

    Arms and Interventions

    Arm Intervention/Treatment
    Group

    Outcome Measures

    Primary Outcome Measures

    1. To evaluate the positive screening rate of MPS subject (I, II VI and IV) under ENT screening algorithm in Taiwan [3 Years]

    Secondary Outcome Measures

    1. 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. [3 Years]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A to 20 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:

    • The subject is 0-20 years of age.

    • The subject had medical history of previous surgical hernia repair or presence of inguinal and/or umbilical hernia.

    • The subject had or is scheduled for ENT surgery for any of the following, alone or in combination with adenoidectomy, tonsillectomy, ear tube insertion/tympanostomy, tracheotomy and bronchoscopy

    • The subject who is willing and able to provide written, signed informed consent, or by a legally authorized representative after the nature of the study has been explained and prior to any research-related procedures.

    Exclusion Criteria:

    -The subject has a current confirmed diagnosis of any MPS disorder.

    Contacts and Locations

    Locations

    No locations specified.

    Sponsors and Collaborators

    • Mackay Memorial Hospital
    • BioMarin Pharmaceutical

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Mackay Memorial Hospital
    ClinicalTrials.gov Identifier:
    NCT03017677
    Other Study ID Numbers:
    • 16MMHIS127
    First Posted:
    Jan 11, 2017
    Last Update Posted:
    Jan 3, 2018
    Last Verified:
    Dec 1, 2017
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Additional relevant MeSH terms:
    Mucopolysaccharidoses

    Study Results

    No Results Posted as of Jan 3, 2018