Clinical Trial: Mucopolysaccharidosis (MPS) Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia Combined With Pediatric ENT Surgery or Bronchoscopy

Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Observational

Official Title: Mucopolysaccharidosis (MPS) Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia Combined With Pediatric ENT S

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.

Detailed Summary: 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.
Sponsor: Mackay Memorial Hospital

Current Primary Outcome: To evaluate the positive screening rate of MPS subject (I, II VI and IV) under ENT screening algorithm in Taiwan [ Time Frame: 3 Years ]

Original Primary Outcome: Same as current

Current Secondary Outcome: 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 ]

Original Secondary Outcome: Same as current

Information By: Mackay Memorial Hospital

Dates:
Date Received: January 9, 2017
Date Started: June 2017
Date Completion: June 2020
Last Updated: January 11, 2017
Last Verified: January 2017