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Scientists track rare glycosylation disorders to unlock disease secrets

NCT ID NCT04199000

Knowledge-focused Sponsor: Icahn School of Medicine at Mount Sinai 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jul 09, 2026 · Last updated Jul 22, 2026 · Updated 3 times

Summary

This study follows people with congenital disorders of glycosylation (CDG) — rare genetic conditions that affect how the body builds sugar chains on proteins. Researchers aim to track how the disease progresses over time, including its impact on organs and thinking abilities. By understanding the natural course of CDG, this work may help identify targets for future treatments.

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 research could identify key markers of disease severity and progression, guiding future treatment development for CDG.
What could go wrong
This is an observational study, not a treatment trial. It will not directly test any therapy, and findings may not lead to immediate clinical applications.

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 500 people

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

Started

Oct 2019

Expected to finish

Jul 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

Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of a congenital disorder of glycosylation (CDG) or NGLY1 deficiency, or individuals whose laboratory values are highly suggestive of CDG

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: * Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency Exclusion Criteria: * None

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Conditions

The condition(s) this trial relates to.

congenital disorder of deglycosylation 1 congenital disorder of glycosylation

As listed by the trial registrant

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

Congenital disorders of glycosylation

How to take part

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

  1. The places running it

    12 sites. 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

  • Baylor College of Medicine

    RECRUITING

    Houston, Texas, 77030, United States

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

  • Children's Hospital of Colorado

    RECRUITING

    Aurora, Colorado, 80045, United States

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19146, United States

  • Children's Hospital of Pittsburgh

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

  • Icahn School of Medicine at Mount Sinai

    RECRUITING

    New York, New York, 10029, United States

  • Mayo Clinic Florida

    RECRUITING

    Jacksonville, Florida, 32224, United States

  • Mayo Clinic in Rochester

    RECRUITING

    Rochester, Minnesota, 55905, United States

  • Rady Children's Hospital

    RECRUITING

    San Diego, California, 92123, United States

  • Seattle Children's Hospital

    RECRUITING

    Seattle, Washington, 98105, United States

  • Tulane University School of Medicine

    NOT_YET_RECRUITING

    New Orleans, Louisiana, 70112, United States

  • University of Minnesota

    RECRUITING

    Minneapolis, Minnesota, 55454, United States

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