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Completed

NCT Number: NCT04201067

Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism

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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Key information

Conditions

Congenital Disorders of Glycosylation Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Mayo Clinic in Rochester

Rochester, Minnesota, 55905, United States

About this study

Residual samples will be tested for a variety of biomarkers that may lead to better understanding of these disorders and help develop treatment options.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • All individuals with specimens in Biochemical Genetics Laboratory and from patients collected under another IRB who have agreed to share samples/data

Exclusion criteria

  • None

Treatment and study plan

Primary outcomes

  1. Quantify N-linked glycan intermediates in plasma and urine

    Time frame: length of study, up to 5 years

    Measure N-linked glycan intermediates in plasma and urine from PMM2-CDG patients.

  2. Develop quantitative biomarkers for PGM1-CDG patients to monitor the efficacy of galactose therapy.

    Time frame: length of study, up to 5 years

    Measure the 41 plasma N-glycan levels in 9 PGM1-CDG patients before and after galactose therapy.

  3. Develop quantitative biomarkers for SLC35A2-CDG patients and monitor galactose therapy efficacy.

    Time frame: length of study, up to 5 years

    Measure levels of plasma N-glycans from 10 SLC35A2-CDG patients before and after galactose therapy.

  4. Validate biomarker to diagnose and follow NGLY1 deficiency and monitor N-acetylglucosamine (GlcNAc) therapy response.

    Time frame: length of study, up to 5 years

    Measure the level of Sia-Gal-GlcNAc-Asn biomarker excretion during GlCNAc therapy.

  5. Validate novel diagnostic biomarkers for ALG13-CDG

    Time frame: length of study, up to 5 years

    Measure GlcNAc-β-Asn on glycoproteins in the cells from the already available fibroblast of 9 ALG13 patients.

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Collaborators

  • National Institute of Neurological Disorders and Stroke (NINDS)

Registry information

Important dates

Study start
2019
Primary completion
2025
Study completion
2025
First posted
Dec 17, 2019
Registry last updated
Oct 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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