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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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
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