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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04201067

Enrollment

240

Registered

2019-12-17

Start date

2019-10-08

Completion date

2025-03-12

Last updated

2025-10-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital Disorders of Glycosylation

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
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.
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.
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.

Countries

United States

Outcome results