- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03017677
A Cross-specialty Collaboration Platform for Mucopolysaccharidosis Confirmative Diagnosis
December 29, 2017 updated by: Mackay Memorial Hospital
The Establishment of a Cross-specialty Collaboration Platform Among Different Medical Specialties Based on High-risk Criteria for Mucopolysaccharidosis Confirmative Diagnosis
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.
Study Overview
Status
Unknown
Conditions
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 Type
Observational
Enrollment (Anticipated)
100
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Hsiang-Yu Lin, MD
- Phone Number: 3089-3090 +886-2-2543-3535
- Email: lxc46199@ms37.hinet.net
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
No older than 20 years (Child, Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Sampling Method
Non-Probability Sample
Study Population
High risk MPS patient
Description
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.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
---|
Group
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
To evaluate the positive screening rate of MPS subject (I, II VI and IV) under ENT screening algorithm in Taiwan
Time Frame: 3 Years
|
3 Years
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
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
|
3 Years
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Collaborators
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Anticipated)
January 1, 2018
Primary Completion (Anticipated)
December 1, 2020
Study Completion (Anticipated)
December 1, 2020
Study Registration Dates
First Submitted
January 9, 2017
First Submitted That Met QC Criteria
January 9, 2017
First Posted (Estimate)
January 11, 2017
Study Record Updates
Last Update Posted (Actual)
January 3, 2018
Last Update Submitted That Met QC Criteria
December 29, 2017
Last Verified
December 1, 2017
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 16MMHIS127
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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