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

NCT04958070 | Unknown

• 1 other identifier: 20CT022be
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

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.

Conditions

MPS I

Keywords

MPS I

Outcome Measures

Primary Outcomes (1)

• 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.

  First Year

Interventions

MPS I OTHER

MPS I, symptoms of disease onset , ERT

Eligibility Criteria

• Age: 3 Years - 8 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• The confirmed MPS I infants

You may not qualify if:

• Not MPS I infants

Sponsors & Collaborators

• Mackay Memorial Hospital: lead
• Sanofi Taiwan Co. Ltd: collaborator

Study Sites (1)

Mackay Memorial Hospital

Taipei, 10449, Taiwan

RECRUITING

Central Study Contacts

Shuan-Pei Lin, MD

CONTACT

+886-2-2543-3535; 4535lin@gmail.com

Fran Sisca, MS

CONTACT

+886-2-2809-4661; fran.e895@mmh.org.tw

Study Design

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

Study Record Dates

• First Submitted: July 1, 2021
• First Posted: July 12, 2021
• Study Start: September 15, 2021
• Primary Completion: October 26, 2024
• Study Completion: October 26, 2024
• Last Updated: March 17, 2022

Record last verified: 2022-03

Locations

TW (1)