Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Congenital Disorders of Glycosylation
- Sponsor
- Mayo Clinic
- Enrollment
- 240
- Locations
- 1
- Primary Endpoint
- Develop quantitative biomarkers for PGM1-CDG patients to monitor the efficacy of galactose therapy.
- Status
- Completed
- Last Updated
- 7 months ago
Overview
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.
Investigators
David R. Deyle
Principal Investigator
Mayo Clinic
Eligibility Criteria
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
- Not provided
Outcomes
Primary Outcomes
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.
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.
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.
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.
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.