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New metabolomic test could spot rare metabolic diseases faster

NCT ID NCT04201067

Diagnosis Sponsor: Mayo Clinic Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accurately identify specific metabolic problems, which could lead to earlier and better treatment.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this approach could lead to faster and more accurate diagnosis of rare metabolic disorders, helping guide treatment decisions.
What could go wrong
This is a completed diagnostic study, not a treatment trial. The approach may not be widely adopted or may not outperform existing methods in all cases.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

240 people

The number who actually took part.

Started

Oct 2019

Finished

Mar 2025

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

congenital disorder of glycosylation inborn errors of metabolism

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Congenital disorders of glycosylation

Contacts and locations

Locations

  • Mayo Clinic in Rochester

    Rochester, Minnesota, 55905, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.