Utilizing Augmented Artificial Intelligence for Aminoacidopathies

Completed

• Conditions: Inborn Errors of Metabolism
• Interventions: Diagnostic Test: Plasma amino acid assay

• Registration Number: NCT05437445
• Lead Sponsor: Aga Khan University Hospital, Pakistan

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2019-08-01
• Primary Completion: 2020-08-30
• Study Completion: 2020-08-30
• Status Verified: 2022-06
• Study First Submitted: 2022-06-25
• Study First Submitted QC: 2022-06-25
• Study First Posted: 2022-06-29
• Last Update Submitted: 2022-06-29
• Last Update Posted: 2022-07-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 2081

Inclusion Criteria

All plasma samples during 1 year received at Biogenetic Lab

Exclusion Criteria

Subjects with age greater than 16 years

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Cases Data	Plasma amino acid assay	subjects having abnormal plasma amino acid profiles with either one or more amino acid concentrations beyond (high or low) the locally defined age-specific reference ranges

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Aga Khan University Hospital; 🇵🇰 Karachi, Sindh, Pakistan