NCT03017677

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.

Trial Health

35
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
100

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Jan 2018

Typical duration for all trials

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 9, 2017

Completed
2 days until next milestone

First Posted

Study publicly available on registry

January 11, 2017

Completed
12 months until next milestone

Study Start

First participant enrolled

January 1, 2018

Completed
2.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2020

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2020

Completed
Last Updated

January 3, 2018

Status Verified

December 1, 2017

Enrollment Period

2.9 years

First QC Date

January 9, 2017

Last Update Submit

December 29, 2017

Conditions

Mucopolysaccharidoses

Outcome Measures

Primary Outcomes (1)

  • To evaluate the positive screening rate of MPS subject (I, II VI and IV) under ENT screening algorithm in Taiwan

    3 Years

Secondary Outcomes (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

Study Arms (1)

Group

Eligibility Criteria

AgeUp to 20 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

High risk MPS patient

You may qualify if:

  • 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.

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Related Publications (7)

  • 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: 25214650RESULT

  • 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: 25178307RESULT

  • 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: 11310367RESULT

  • 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: 20924685RESULT

  • 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: 27134829RESULT

  • 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.

    RESULT

  • 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.

    RESULT

MeSH Terms

Conditions

Mucopolysaccharidoses

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLysosomal Storage DiseasesMucinosesConnective Tissue DiseasesSkin and Connective Tissue DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Central Study Contacts

Hsiang-Yu Lin, MD

CONTACT

+886-2-2543-3535lxc46199@ms37.hinet.net

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 9, 2017

First Posted

January 11, 2017

Study Start

January 1, 2018

Primary Completion

December 1, 2020

Study Completion

December 1, 2020

Last Updated

January 3, 2018

Record last verified: 2017-12

Data Sharing

IPD Sharing
Will not share