MucopolysaccharidosesNCT03017677
A Cross-specialty Collaboration Platform for Mucopolysaccharidosis Confirmative Diagnosis
An observational study of Mucopolysaccharidoses, run by Mackay Memorial Hospital.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 20 years
- Conditions the study is for
- Mucopolysaccharidoses
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- 1 Jan 2018to Dec 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 20 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: High risk MPS patient
Who may be able to join
- 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.
Who cannot join
- -The subject has a current confirmed diagnosis of any MPS disorder.
Trial locations and contacts
No sites are listed yet.
About this study
Official title: 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.
Read the 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.
- Conditions
- Mucopolysaccharidoses
- Medical subject headings
- Mucopolysaccharidoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Group | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
To evaluate the positive screening rate of MPS subject (I, II VI and IV) under ENT screening algorithm in Taiwan
Measured: 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.
Measured: 3 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jan 2017 (estimated)
- Study start1 Jan 2018 (estimated)
- Primary completionDec 2020 (estimated)
- Study completionDec 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for MucopolysaccharidosesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mackay Memorial Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03017677
- Sponsor's protocol ID
- 16MMHIS127
- Status last verified
- Dec 2017
- First submitted
- 9 Jan 2017
- Last updated
- 3 Jan 2018
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
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.
PubMed 25214650Chuang 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.
PubMed 25178307Chuang 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.
PubMed 11310367Lin 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.
PubMed 20924685Lin 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.
PubMed 27134829Neufeld 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 at a glance
From the registry record, last updated by the sponsor on 3 Jan 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Establishment of a Cross-specialty Collaboration Platform Among Different Medical Specialties Based on High-risk Criteria for Mucopolysaccharidosis Confirmative Diagnosis
- ClinicalTrials.gov ID
- NCT03017677
- Acronym / sponsor ID
- 16MMHIS127
- Conditions
- Mucopolysaccharidoses
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Mackay Memorial HospitalUniversity, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Study start
- 1 Jan 2018 (estimated)
- Primary completion
- Dec 2020 (estimated)
- Study completion
- Dec 2020 (estimated)
- First posted
- 11 Jan 2017 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 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
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Group | – | – |
Who may qualify
- Ages
- Up to 20 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- High risk MPS patient
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (1 listed)
- -The subject has a current confirmed diagnosis of any MPS disorder.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
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
1 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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jan 2018.
- Results publication: PubMed 25214650Arn 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.
- Results publication: PubMed 25178307Chuang 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.
- Results publication: PubMed 11310367Chuang 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.
- Results publication: PubMed 20924685Lin 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.
- Results publication: PubMed 27134829Lin 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.
- Results publicationNeufeld 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.
- Results publicationChuang 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidoses, run by Mackay Memorial Hospital.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 3 Jan 2018. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Hsiang-Yu Lin, MD (+886-2-2543-3535 ext. 3089-3090, lxc46199@ms37.hinet.net), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03017677, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Jan 2018.