The Intensively Follow-up Examinations for Asymptomatic MPS I Infants in Taiwan

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Brief Title

The Intensively Follow-up Examinations for Asymptomatic MPS I Infants in Taiwan

Official Title

The Intensively Follow-up Examinations for Asymptomatic MPS I Infants From Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan.

Brief 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. 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 Type

Observational


Primary Outcome

Find signs or symptoms of disease onset


Condition

MPS I

Intervention

MPS I


Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

20

Start Date

October 26, 2021

Completion Date

October 26, 2024

Primary Completion Date

October 26, 2024

Eligibility Criteria

        Inclusion Criteria:

          -  The confirmed MPS I infants

        Exclusion Criteria:

          -  Not MPS I infants
      

Gender

All

Ages

3 Years - 8 Years

Accepts Healthy Volunteers

No

Contacts

, +886-2-2543-3535, [email protected]

Location Countries

Taiwan

Location Countries

Taiwan

Administrative Informations


NCT ID

NCT04958070

Organization ID

20CT022be


Responsible Party

Sponsor

Study Sponsor

Mackay Memorial Hospital

Collaborators

 Sanofi Taiwan Co. Ltd

Study Sponsor

, , 


Verification Date

July 2021