Utilizing Augmented Artificial Intelligence for Aminoacidopathies

Inborn Errors of Metabolism Clinical Trial

Official title:

Utilizing Augmented Artificial Intelligence for Aminoacidopathies: Experience of Collaborative Laboratory Integrated Reporting From Pakistan

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05437445
• Other study ID #: ERC # 2019-1709-4536
• Status: Completed
• Start date: August 1, 2019
• Est. completion date: August 30, 2020

Study information

• Verified date: June 2022
• Source: Aga Khan University Hospital, Pakistan
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The objective of the study was to interpret metabolic profiles of plasma amino acid (PAA) and compare reference intervals (RI) of PAA data from Pakistan with data from other countries using Clinical Laboratory Integrated Reports (CLIR). One-year data (reference and cases data) of twenty-two PAA, analyzed by ion exchange high performance chromatography at Biochemical Genetics Laboratory (BGL) of Aga Khan University Pakistan, was compiled in a comma-separated values (.csv) file and uploaded on CLIR Software using AAQP (Amino Acid in Plasma) application for statistical analysis. Among total of 2081 PAA profiles, 92% (n=1913) were completely normal with all PAA values falling within the age-specific reference range. A concordance of 98.8% was noted between the reporting done by the BGL at AKU and then after applying CLIR tools.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 2081
• Est. completion date: August 30, 2020
• Est. primary completion date: August 30, 2020
• Gender: All
• Age group: 1 Year to 16 Years

Eligibility

Inclusion Criteria:

All plasma samples during 1 year received at Biogenetic Lab

Exclusion Criteria:

Subjects with age greater than 16 years

Related Conditions & MeSH terms

• Inborn Errors of Metabolism
• Metabolism, Inborn Errors

Intervention

Diagnostic Test:
• Plasma amino acid assay
Plasma amino acid analysis was performed on all the blood samples received in biogenetics lab at Aga khan university, Karachi during one year period.

Locations

Country	Name	City	State
Pakistan	Aga Khan University Hospital	Karachi	Sindh

Sponsors (1)

Lead Sponsor	Collaborator
Aga Khan University Hospital, Pakistan

Country where clinical trial is conducted

Pakistan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	postanalytical interpretation of concentration of plasma leucin, isoleucine and valine in nmol/L using Clinical Laboratory Integrated Reports (CLIR)	Clinical Laboratory Integrated Reports (CLIR, formerly Region 4 Stork) is a post-analytical software that compares the amino acid results against a large database of reference ranges, disease-specific cutoffs, and ratios of diagnostic markers. Among 168 subjects having abnormal PAA profiles in our lab, 10.1% were correctly classified as MSUD and 100% concordance with CLIR reporting.	1 year