Utilizing Augmented Artificial Intelligence for Aminoacidopathies

NCT05437445 | Completed

• 1 other identifier: ERC # 2019-1709-4536
• Study Type: observational
• Target: 2,081
• Locations: 1 country
• Sites: 1

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.

Conditions

Inborn Errors of Metabolism

Keywords

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

Cases Data

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

Diagnostic Test: Plasma amino acid assay

Interventions

Plasma amino acid assay DIAGNOSTIC_TEST

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

Cases Data

Eligibility Criteria

• Age: 1 Year - 16 Years
• Sex: all
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Data of all those who had Plasma amino acid analyzed at the Biogenetic laboratory of Aga Khan University, symptomatic as well as asymptomatic children with suspicion of Inherited Metabolic Disorders (IMDs), from August 2019-August 2020 were included. Plasma amino acids analysis was performed using cation-exchange high-performance liquid chromatography (HPLC) on Biochrom 30+ model using lithium column diameter 4.6 mm and detected at 440/570 nm.

You may qualify if:

• All plasma samples during 1 year received at Biogenetic Lab

You may not qualify if:

• Subjects with age greater than 16 years

Sponsors & Collaborators

• Aga Khan University Hospital, Pakistan: lead

Study Sites (1)

Aga Khan University Hospital

Karachi, Sindh, 74800, Pakistan

Location

MeSH Terms

Conditions

Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Dr lena Jafri

  Aga khan hospital karachi, Pakistan

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PRINCIPAL INVESTIGATOR

Study Record Dates

• First Submitted: June 25, 2022
• First Posted: June 29, 2022
• Study Start: August 1, 2019
• Primary Completion: August 30, 2020
• Study Completion: August 30, 2020
• Last Updated: July 5, 2022

Record last verified: 2022-06

Data Sharing

• IPD Sharing: Will not share

Locations

PA (1)