Inborn Errors of Metabolism Clinical Trial
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.
n/a
Status | Clinical Trial | Phase | |
---|---|---|---|
Active, not recruiting |
NCT03548779 -
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
|
N/A | |
Completed |
NCT01049854 -
CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant
|
Phase 2 | |
Completed |
NCT00001596 -
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
|
Phase 2 | |
Withdrawn |
NCT01003912 -
Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases
|
Phase 1 | |
Completed |
NCT00744692 -
Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders
|
Phase 1 | |
Completed |
NCT00692926 -
Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells
|
Phase 1 | |
Recruiting |
NCT05818566 -
Orphan Drugs for Inherited Metabolic Diseases
|
||
Completed |
NCT05330039 -
Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
|
||
Withdrawn |
NCT03866954 -
Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy
|
Phase 2 | |
Completed |
NCT03911089 -
A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD
|
N/A | |
Completed |
NCT03058848 -
Evaluation of PKU Start
|
N/A | |
Suspended |
NCT04399694 -
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
|
||
Terminated |
NCT00654433 -
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
|
Phase 3 | |
Completed |
NCT03168399 -
Evaluation of PKU Explore
|
N/A | |
Recruiting |
NCT00078078 -
Clinical and Laboratory Study of Methylmalonic Acidemia
|
||
Completed |
NCT00328159 -
Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids
|
N/A | |
Completed |
NCT04309331 -
Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute
|
N/A | |
Completed |
NCT04709965 -
Evaluating Face-Recognition Technology in Syndrome Diagnosis
|
N/A | |
Recruiting |
NCT06360913 -
Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases
|
N/A | |
Completed |
NCT00309400 -
The Early History of Universal Screening for Metabolic Disorders
|
N/A |