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

NCT04201067 | Completed

• 2 other identifiers: 16-004682U54NS115198-01
• Study Type: observational
• Target: 240
• Locations: 1 country
• Sites: 1

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.

Conditions

Congenital Disorders of Glycosylation

Outcome Measures

Primary Outcomes (5)

• Quantify N-linked glycan intermediates in plasma and urine

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

  length of study, up to 5 years

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

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

  length of study, up to 5 years

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

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

  length of study, up to 5 years

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

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

  length of study, up to 5 years

• Validate novel diagnostic biomarkers for ALG13-CDG

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

  length of study, up to 5 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

These individuals will likely have a congenital disorder of glycosylation or other metabolic disease.

You may qualify if:

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

You may not qualify if:

• None

Sponsors & Collaborators

• Mayo Clinic: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

Mayo Clinic in Rochester

Rochester, Minnesota, 55905, United States

Location

Related Links

• Mayo Clinic Clinical Trials

Biospecimen

Retention: SAMPLES WITH DNA

Stool, urine, DBS, fibroblasts, and blood can be retained for biomarker testing. DNA may be a part of this testing in the future.

MeSH Terms

Conditions

Congenital Disorders of Glycosylation

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• David Deyle, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: December 8, 2019
• First Posted: December 17, 2019
• Study Start: October 8, 2019
• Primary Completion: March 12, 2025
• Study Completion: March 12, 2025
• Last Updated: October 3, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: length of study

Locations

US (1)