Utilizing Augmented Artificial Intelligence for Aminoacidopathies

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05437445

Enrollment

2081

Registered

2022-06-29

Start date

2019-08-01

Completion date

2020-08-30

Last updated

2022-07-05

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Inborn Errors of Metabolism

Keywords

Clinical Laboratory Integrated Reports (CLIR), Inherited metabolic disorders (IMDs)

Brief 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.

Interventions

DIAGNOSTIC_TESTPlasma 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.

Study design

Observational model

CASE_ONLY

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

1 Years to 16 Years

Inclusion criteria

All plasma samples during 1 year received at Biogenetic Lab

Exclusion criteria

Subjects with age greater than 16 years

Design outcomes

Primary

Measure	Time frame	Description
postanalytical interpretation of concentration of plasma leucin, isoleucine and valine in nmol/L using Clinical Laboratory Integrated Reports (CLIR)	1 year	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.

Countries

Pakistan

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026