Utilizing Augmented Artificial Intelligence for Aminoacidopathies

NCT ID: NCT05437445

Last Updated: 2022-07-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

2081 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-08-01

Study Completion Date

2020-08-30

Brief Summary

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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

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Conditions

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Inborn Errors of Metabolism

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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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

Plasma amino acid assay

Intervention Type 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.

Interventions

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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.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

All plasma samples during 1 year received at Biogenetic Lab

Exclusion Criteria

Subjects with age greater than 16 years
Minimum Eligible Age

1 Year

Maximum Eligible Age

16 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Aga Khan University Hospital, Pakistan

OTHER

Sponsor Role lead

Responsible Party

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Zaib Un Nisa Khan

PRINCIPAL INVESTIGATOR

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Dr lena Jafri

Role: PRINCIPAL_INVESTIGATOR

Aga khan hospital karachi, Pakistan

Locations

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Aga Khan University Hospital

Karachi, Sindh, Pakistan

Site Status

Countries

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Pakistan

Other Identifiers

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ERC # 2019-1709-4536

Identifier Type: -

Identifier Source: org_study_id

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