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

Congenital Disorders of Glycosylation Clinical Trial

Official title:

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

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT04201067
• Other study ID #: 16-004682
• Secondary ID: U54NS115198-01
• Status: Enrolling by invitation
• Start date: October 8, 2019
• Est. completion date: August 2024

Study information

• Verified date: March 2024
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 510
• Est. completion date: August 2024
• Est. primary completion date: August 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Congenital Disorders of Glycosylation
• Metabolism, Inborn Errors

Locations

Country	Name	City	State
United States	Mayo Clinic in Rochester	Rochester	Minnesota

Sponsors (2)

Lead Sponsor	Collaborator
Mayo Clinic	National Institute of Neurological Disorders and Stroke (NINDS)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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
Primary	Validate novel diagnostic biomarkers for ALG13-CDG	Measure GlcNAc-ß-Asn on glycoproteins in the cells from the already available fibroblast of 9 ALG13 patients.	length of study, up to 5 years