Inborn Errors of MetabolismNCT05437445
Utilizing Augmented Artificial Intelligence for Aminoacidopathies
An observational study of Inborn Errors of Metabolism, run by Aga Khan University Hospital, Pakistan at 1 site in Pakistan.
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). Read more about this study
- Who is it for?
- Ages 1 year to 16 years
- Conditions the study is for
- Inborn Errors of Metabolism
- What is being tested?
- Plasma amino acid assay
- How many people
- 2,081 participants
- Where
- 1 sitePakistan
- Study dates
- 1 Aug 2019to 30 Aug 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 16 years
- All sexes
- Child
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.
Who may be able to join
- All plasma samples during 1 year received at Biogenetic Lab
Who cannot join
- Subjects with age greater than 16 years
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Utilizing Augmented Artificial Intelligence for Aminoacidopathies: Experience of Collaborative Laboratory Integrated Reporting From Pakistan
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
- Being tested
- Plasma amino acid assay
- Keywords
- Clinical Laboratory Integrated Reports (CLIR), Inherited metabolic disorders (IMDs)
- Medical subject headings
- Metabolism, Inborn Errors
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Plasma amino acid assayDiagnostic 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.
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Diagnostic Test: Plasma amino acid assay |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jun 2022
- Study start1 Aug 2019
- Primary completion30 Aug 2020
- Study completion30 Aug 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inborn Errors of MetabolismStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 2,081 participants (actual)
Sponsor and investigators
- Lead sponsor
- Aga Khan University Hospital, Pakistan
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Zaib Un Nisa Khan, Aga Khan University Hospital, Pakistan
- Investigators
- Dr lena Jafri, Principal investigator, Aga khan hospital karachi, Pakistan
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05437445
- Sponsor's protocol ID
- ERC # 2019-1709-4536
- Status last verified
- Jun 2022
- First submitted
- 25 Jun 2022
- Last updated
- 5 Jul 2022
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Utilizing Augmented Artificial Intelligence for Aminoacidopathies: Experience of Collaborative Laboratory Integrated Reporting From Pakistan
- ClinicalTrials.gov ID
- NCT05437445
- Acronym / sponsor ID
- ERC # 2019-1709-4536
- Conditions
- Inborn Errors of Metabolism
- Keywords
- Clinical Laboratory Integrated Reports (CLIR), Inherited metabolic disorders (IMDs)
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 2,081 participants (actual)
- Lead sponsor
- Aga Khan University Hospital, PakistanUniversity, hospital or other
- Study start
- 1 Aug 2019 (actual)
- Primary completion
- 30 Aug 2020 (actual)
- Study completion
- 30 Aug 2020 (actual)
- First posted
- 29 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cases Data | – | Diagnostic Test: Plasma amino acid assaysubjects 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 |
Who may qualify
- Ages
- 1 year to 16 years
- Sex
- All
- Age groups
- Child
- 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.
Key inclusion criteria (1 listed)
- All plasma samples during 1 year received at Biogenetic Lab
Key exclusion criteria (1 listed)
- Subjects with age greater than 16 years
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Plasma amino acid assayPlasma amino acid analysis was performed on all the blood samples received in biogenetics lab at Aga khan university, Karachi during one year period. | Diagnostic test | Cases Data |
Primary outcome
postanalytical interpretation of concentration of plasma leucin, isoleucine and valine in nmol/L using Clinical Laboratory Integrated Reports (CLIR)
Time frame: 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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jul 2022.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Dr lena Jafri principal investigator
Aga khan hospital karachi, Pakistan
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inborn Errors of Metabolism, run by Aga Khan University Hospital, Pakistan at 1 site in Pakistan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Pakistan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
postanalytical interpretation of concentration of plasma leucin, isoleucine and valine in nmol/L using Clinical Laboratory Integrated Reports (CLIR) (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Jul 2022.