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

• Conditions: Congenital Disorders of Glycosylation

• Registration Number: NCT04201067
• Lead Sponsor: Mayo Clinic

Brief Summary

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.

Detailed Description

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

Study Timeline

• Study Start: 2019-10-08
• Study First Submitted: 2019-12-08
• Study First Submitted QC: 2019-12-12
• Study First Posted: 2019-12-17
• Status Verified: 2024-10
• Last Update Submitted: 2024-10-14
• Last Update Posted: 2024-10-16
• Primary Completion: 2030-08
• Study Completion: 2030-08

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 510

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Develop quantitative biomarkers for PGM1-CDG patients to monitor the efficacy of galactose therapy.	length of study, up to 5 years	Measure the 41 plasma N-glycan levels in 9 PGM1-CDG patients before and after galactose therapy.
Develop quantitative biomarkers for SLC35A2-CDG patients and monitor galactose therapy efficacy.	length of study, up to 5 years	Measure levels of plasma N-glycans from 10 SLC35A2-CDG patients before and after galactose therapy.
Quantify N-linked glycan intermediates in plasma and urine	length of study, up to 5 years	Measure N-linked glycan intermediates in plasma and urine from PMM2-CDG patients.
Validate biomarker to diagnose and follow NGLY1 deficiency and monitor N-acetylglucosamine (GlcNAc) therapy response.	length of study, up to 5 years	Measure the level of Sia-Gal-GlcNAc-Asn biomarker excretion during GlCNAc therapy.
Validate novel diagnostic biomarkers for ALG13-CDG	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.

Trial Locations

Locations (1)

Mayo Clinic in Rochester; 🇺🇸 Rochester, Minnesota, United States