MPS INCT04958070
The Intensively Follow-up Examinations for Asymptomatic MPS I Infants in Taiwan
An observational study of MPS I, run by Mackay Memorial Hospital at 1 site in Taiwan.
Trial summary
MPS I newborn screening has been executed in Taiwan nationwide since August 2015. Infants who failed the recheck at recall were referred to MacKay Memorial Hospital for a detailed confirmatory diagnosis. Urinary first-line biochemistry examinations including urinary GAG quantification (DMB/Cre. Read more about this study
- Who is it for?
- Ages 3 to 8 years
- Conditions the study is for
- MPS I
- What is being tested?
- MPS I
- How many people
- 20 participants
- Where
- 1 siteTaiwan
- Study dates
- 15 Sep 2021to 26 Oct 2024
- 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 3 to 8 years
- All sexes
- No healthy volunteers
- Child
Study population: The confirmed MPS I infants would be the major objects in this study for long-term inspections and assessments. In addition to this, some referral cases would be included in this study if the case is with negative GAG tests, but having been identified with two nucleotide variations or with significant reduction of IDUA enzyme activity. The estimated subject population would be 12 (11+1) in the first year, 16 (12+4) in the second year, and 20 (16+4) in the third year according to the recall rate of MPS I and the realistic situation of referred cases from newborn screening centers to MacKay Memorial Hospital.
Who may be able to join
- The confirmed MPS I infants
Who cannot join
- Not MPS I infants
Trial locations and contacts
1 site in 1 country.
Taiwan1 site, 1 recruiting
- Recruiting
Mackay Memorial Hospital
Taipei, 10449
Shuan-Pei Lin, MD, +886-2-25433535 ext. 3089, 4535lin@gmail.com
Fran Sisca, MS, +886-2-28094661 ext. 2350, fran.e895@mmh.org.tw
About this study
Official title: The Intensively Follow-up Examinations for Asymptomatic MPS I Infants From Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan.
MPS I newborn screening has been executed in Taiwan nationwide since August 2015. Infants who failed the recheck at recall were referred to MacKay Memorial Hospital for a detailed confirmatory diagnosis. Urinary first-line biochemistry examinations including urinary GAG quantification (DMB/Cre. ratio), two-dimensional electrophoresis (2-D EP), and tandem mass spectrometry assay for predominant disaccharides derived from GAGs (i.e. CS, DS, HS, and KS) were performed. If the results were positive, a confirmative diagnosis was made according to the results of leukocyte enzymatic assay and molecular DNA analysis. Up to January 31, 2019, a total of 390,793 infants had been analyzed for MPS I, in those 11 suspicious cases were referred to MacKay Memorial Hospital for confirmation. The recall rates of MPS I was 0.0028%. Four of the 11 infants were confirmed to have MPS I. The prevalence rates of MPS I was 1.02 per 100,000 live births, respectively. Infants suspected of having MPS with a positive laboratory diagnosis but without any typical, clinical manifestations are not conformed to receive ERT under the treatment guideline of ERT for MPS in Taiwan. Distinctly, the clinical manifestations of MPS are irreversible and would be worse progressively while the symptoms have shown up. Receiving ERT at this time would effectively prevent the progression of illness, but, cannot rescue or reform the irreversible physical problems. By proceeding and undergoing an intensively long-term regular physical and laboratory examinations for asymptomatic infants with MPS I can effectively control the possibility of giving an ERT in a timely fashion.
Read the detailed description
The study hypothesis is to proceed and to undergo an intensively long-term clinical management and laboratory examinations for asymptomatic infants with MPS I in order to be able to give an enzyme replacement therapy (ERT) in a timely fashion. The overall objectives of this study are summarized as follows, including: 1. To plan a three-month or six-month interval of recall process depending on the judgment of individual case by pediatric geneticist. 2. To recall the asymptomatic MPS I infants back to MacKay Memorial Hospital for MPS follow-up examinations, including regular physical examinations for the earliest presenting symptoms such as otitis media, abdominal or inguinal hernia, and coarse facial features, as well as the urinary biochemistry glycosaminoglycan (GAG) tests. 3. To give ERT in time whenever the typical MPS signs or symptoms showed up. 4. To achieve the aim of newborn screening for MPS, "Early detection, making early diagnosis, and providing early therapy can effectively prevent the development of severe clinical manifestations".
- Conditions
- MPS I
- Being tested
- MPS I
- Keywords
- MPS I
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MPS IOther
MPS I, symptoms of disease onset , ERT
What is being measured
The primary outcome is the main question the study is designed to answer.
Find signs or symptoms of disease onset
The primary endpoint of this study is to find out any signs or symptoms of disease onset at the earliest time in order to diminish the irreversible developmental damage has taken place if the intervention of ERT is giving timely.
Measured: First Year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jul 2021
- Study start15 Sep 2021
- Primary completion26 Oct 2024 (estimated)
- Study completion26 Oct 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MPS IStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mackay Memorial Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Sanofi Taiwan Co. Ltd
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04958070
- Sponsor's protocol ID
- 20CT022be
- Status last verified
- Mar 2022
- First submitted
- 1 Jul 2021
- Last updated
- 17 Mar 2022
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided: It is yet to be decided, it will be considered after completion of primary endpoint assessment.
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Intensively Follow-up Examinations for Asymptomatic MPS I Infants From Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan.
- ClinicalTrials.gov ID
- NCT04958070
- Acronym / sponsor ID
- 20CT022be
- Conditions
- MPS I
- Keywords
- MPS I
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Mackay Memorial HospitalUniversity, hospital or other
- Collaborators
- Sanofi Taiwan Co. Ltd
- Study start
- 15 Sep 2021 (actual)
- Primary completion
- 26 Oct 2024 (estimated)
- Study completion
- 26 Oct 2024 (estimated)
- First posted
- 12 Jul 2021 (actual)
- 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.
MPS I newborn screening has been executed in Taiwan nationwide since August 2015. Infants who failed the recheck at recall were referred to MacKay Memorial Hospital for a detailed confirmatory diagnosis. Urinary first-line biochemistry examinations including urinary GAG quantification (DMB/Cre. ratio), two-dimensional electrophoresis (2-D EP), and tandem mass spectrometry assay for predominant disaccharides derived from GAGs (i.e. CS, DS, HS, and KS) were performed. If the results were positive, a confirmative diagnosis was made according to the results of leukocyte enzymatic assay and molecular DNA analysis. Up to January 31, 2019, a total of 390,793 infants had been analyzed for MPS I, in those 11 suspicious cases were referred to MacKay Memorial Hospital for confirmation. The recall rates of MPS I was 0.0028%. Four of the 11 infants were confirmed to have MPS I. The prevalence rates of MPS I was 1.02 per 100,000 live births, respectively. Infants suspected of having MPS with a positive laboratory diagnosis but without any typical, clinical manifestations are not conformed to receive ERT under the treatment guideline of ERT for MPS in Taiwan. Distinctly, the clinical manifestations of MPS are irreversible and would be worse progressively while the symptoms have shown up. Receiving ERT at this time would effectively prevent the progression of illness, but, cannot rescue or reform the irreversible physical problems. By proceeding and undergoing an intensively long-term regular physical and laboratory examinations for asymptomatic infants with MPS I can effectively control the possibility of giving an ERT in a timely fashion.
Detailed description
The study hypothesis is to proceed and to undergo an intensively long-term clinical management and laboratory examinations for asymptomatic infants with MPS I in order to be able to give an enzyme replacement therapy (ERT) in a timely fashion. The overall objectives of this study are summarized as follows, including: 1. To plan a three-month or six-month interval of recall process depending on the judgment of individual case by pediatric geneticist. 2. To recall the asymptomatic MPS I infants back to MacKay Memorial Hospital for MPS follow-up examinations, including regular physical examinations for the earliest presenting symptoms such as otitis media, abdominal or inguinal hernia, and coarse facial features, as well as the urinary biochemistry glycosaminoglycan (GAG) tests. 3. To give ERT in time whenever the typical MPS signs or symptoms showed up. 4. To achieve the aim of newborn screening for MPS, "Early detection, making early diagnosis, and providing early therapy can effectively prevent the development of severe clinical manifestations".
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 3 to 8 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- The confirmed MPS I infants would be the major objects in this study for long-term inspections and assessments. In addition to this, some referral cases would be included in this study if the case is with negative GAG tests, but having been identified with two nucleotide variations or with significant reduction of IDUA enzyme activity. The estimated subject population would be 12 (11+1) in the first year, 16 (12+4) in the second year, and 20 (16+4) in the third year according to the recall rate of MPS I and the realistic situation of referred cases from newborn screening centers to MacKay Memorial Hospital.
Key inclusion criteria (1 listed)
- The confirmed MPS I infants
Key exclusion criteria (1 listed)
- Not MPS I infants
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MPS IMPS I, symptoms of disease onset , ERT | Other | – |
Primary outcome
Find signs or symptoms of disease onset
Time frame: First Year
The primary endpoint of this study is to find out any signs or symptoms of disease onset at the earliest time in order to diminish the irreversible developmental damage has taken place if the intervention of ERT is giving timely.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Mar 2022.
- Individual participant dataSharing planned: Undecided. It is yet to be decided, it will be considered after completion of primary endpoint assessment.
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MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of MPS I, run by Mackay Memorial Hospital at 1 site in Taiwan.
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 1 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 17 Mar 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
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 Shuan-Pei Lin, MD (+886-2-2543-3535 ext. 3089, 4535lin@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Find signs or symptoms of disease onset (time frame: First Year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 17 Mar 2022.