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

NCT ID: NCT04201067

Last Updated: 2025-10-03

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

240 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-10-08

Study Completion Date

2025-03-12

Brief Summary

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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

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Residual samples will be tested for a variety of biomarkers that may lead to better understanding of these disorders and help develop treatment options.

Conditions

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Congenital Disorders of Glycosylation

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

Mayo Clinic

OTHER

Sponsor Role lead

Responsible Party

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David R. Deyle

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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David Deyle, MD

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

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Mayo Clinic in Rochester

Rochester, Minnesota, United States

Site Status

Countries

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United States

Related Links

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Other Identifiers

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U54NS115198-01

Identifier Type: NIH

Identifier Source: secondary_id

View Link

16-004682

Identifier Type: -

Identifier Source: org_study_id

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