Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods.
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Quantify N-linked glycan intermediates in plasma and urine
Timeframe: length of study, up to 5 years
Develop quantitative biomarkers for PGM1-CDG patients to monitor the efficacy of galactose therapy.
Timeframe: length of study, up to 5 years
Develop quantitative biomarkers for SLC35A2-CDG patients and monitor galactose therapy efficacy.
Timeframe: length of study, up to 5 years
Validate biomarker to diagnose and follow NGLY1 deficiency and monitor N-acetylglucosamine (GlcNAc) therapy response.
Timeframe: length of study, up to 5 years
Validate novel diagnostic biomarkers for ALG13-CDG
Timeframe: length of study, up to 5 years