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

March 25, 2024 updated by: David R. Deyle, Mayo Clinic
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.

Study Overview

Status

Enrolling by invitation

Conditions

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 Type

Observational

Enrollment (Estimated)

510

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Mayo Clinic in Rochester

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

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

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
length of study, up to 5 years
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.
length of study, up to 5 years
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.
length of study, up to 5 years
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.
length of study, up to 5 years
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.
length of study, up to 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Mayo Clinic

Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

Investigators

  • Principal Investigator: David Deyle, MD, Mayo Clinic

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 8, 2019

Primary Completion (Estimated)

August 1, 2024

Study Completion (Estimated)

August 1, 2024

Study Registration Dates

First Submitted

December 8, 2019

First Submitted That Met QC Criteria

December 12, 2019

First Posted (Actual)

December 17, 2019

Study Record Updates

Last Update Posted (Actual)

March 27, 2024

Last Update Submitted That Met QC Criteria

March 25, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 16-004682
  • U54NS115198-01 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Information and samples can be shared at PI's discretion.

IPD Sharing Time Frame

length of study

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Congenital Disorders of Glycosylation

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Burkina Faso

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe