Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

Researchers launch Largest-Ever natural history study for rare GSD types

NCT ID NCT04454216

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 study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 is collecting medical information from 400 people with Glycogen Storage Disease Type VI or Type IX to learn how these rare liver conditions progress over time. Researchers will review patient records from clinic visits to track disease changes, genetic types, and lab results. No new treatments are being tested—the goal is simply to better understand these diseases.

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 this study succeeds, it could provide doctors with a clearer picture of how GSD VI and GSD IX progress, helping to improve future care and monitoring for patients.
What could go wrong
This is an observational study that only reviews existing medical records, so it does not test any new treatment. The results may not apply to all patients, and no direct benefit to participants is expected.

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

About 400 people

The number the study aims to enrol. It can still change while the study runs.

Started

Sep 2020

Expected to finish

Jan 2030

An estimate. End dates often move.

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

All patients with GSD VI or GSD IX, regardless of gender or ethnicity, are eligible for enrollment.

Ages

0 to 90 years

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: * Diagnosis of GSD VI or GSD IX via: * Two variants in the PYGL, PHKA1, PHKA2, PHKG1, PHKG2, or PHKB gene (or one variant with evidence of disease). Note: for males, one variant in the PHKA1 or PHKA2 gene is sufficient for inclusion. * Deficient GP activity or PhK activity per enzymology * Histology as confirmed by clinician * Pregnant women with a diagnosis of GSD VI or GSD IX will be included * Able to provide informed consent for self (adults) or affected individual (minor or adults with a legally authorized representative) * Able to provide consent for release of medical records Exclusion criteria: * Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Glycogen storage disease IXA1 are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

glycogen storage disease IX glycogen storage disease IXa1 glycogen storage disease IXa2 glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease VI Glycogen Storage Disease, Type IXA2

As listed by the trial registrant

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

Glycogen storage disease IXA1 Glycogen storage disease IXA2 Glycogen storage disease ixb Glycogen storage disease ixc Glycogen storage disease vi GSD 6 GSD 9 (all subtypes)

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Duke University

    RECRUITING

    Durham, North Carolina, 27710, United States

More trials for these conditions

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