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Scientists hunt for missing genetic clues in mystery diseases

NCT ID NCT04399694

Knowledge-focused Sponsor: Duke University 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study aimed to find new genetic changes that might cause inherited diseases, especially in people who already have a diagnosis but whose genetic tests were not clear. Researchers studied 56 patients and their family members to look for hidden variants in parts of the DNA that are often overlooked. The goal was to better understand the genetic roots of these conditions, not to test a new treatment.

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

56 people

The number who actually took part.

Started

Mar 2020

Finished

Apr 2024

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

Patients with diagnosed genetic disease and inconclusive genetic results and their unaffected family members

Ages

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

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

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: Subjects will have one or more of the following: * Patients (probands) diagnosed with a genetic disease * Patients (probands) with inconclusive genetic results * Patients (probands) that have identical coding and/or splicing variants, but display highly diverse phenotypes * Unaffected family members of probands Exclusion Criteria: There are no exclusion criteria for this study.

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Conditions

The condition(s) this trial relates to.

disorder of glycogen metabolism hereditary disease inborn errors of metabolism lysosomal storage disease

As listed by the trial registrant

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

Genetic disease Glycogen storage disease Inborn errors of metabolism Lysosomal storage diseases Storage disease

Contacts and locations

Locations

  • Duke University

    Durham, North Carolina, 27710, United States

More trials for these conditions

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