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Researchers track rare disease PMM2-CDG to unlock clues for future treatments

NCT ID NCT03173300

Knowledge-focused Sponsor: Glycomine, Inc. 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jul 09, 2026 · Updated 2 times

Summary

This study is gathering medical information from 120 people with PMM2-CDG, a rare genetic disorder. Researchers will track growth, organ function, and development over time. The goal is to better understand the disease and help design future treatments. No new drugs are being tested.

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

139 people

The number who actually took part.

Started

Jan 2018

Finished

Apr 2026

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

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 PMM2-CDG, all ages

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: * Informed consent/assent by the patient and/or their legally authorized representative * Confirmed diagnosis of PMM2-CDG, based on enzymatic or molecular tests * Willing and able to adhere to study requirements described in the protocol and consent/assent documents Exclusion Criteria: * Known or suspected differential diagnosis of any other known CDG (not PMM2-CDG) * Currently using investigational drug * Blood loss of ≥ 250 mL or donated blood within 56 days, or donated plasma within 7 days before study screening

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Conditions

The condition(s) this trial relates to.

PMM2-congenital disorder of glycosylation

As listed by the trial registrant

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

Phosphomannomutase 2 deficiency

Contacts and locations

Locations

  • Centro Hospitalar do Porto

    Porto, Portugal

  • Children's Hospital of Philadelphia (CHOP)

    Philadelphia, Pennsylvania, 19104, United States

  • General University Hospital in Prague

    Prague, Czechia

  • Hospital Sant Joan de Déu

    Barcelona, Spain

  • Mayo Clinic College of Medicine

    Rochester, Minnesota, 55905, United States

  • Mother and Child Institute (Instytut Matki i Dziecka)

    Warsaw, Poland

  • Necker Enfants-Malades Hospital

    Paris, France

  • Radboud University Nejmegen Medical Center

    Nijmegen, Netherlands

  • Seattle Children's Hospital

    Seattle, Washington, 98105, United States

  • University Hospital Leuven

    Leuven, Belgium, Belgium

  • University Hospital of Catania

    Catania, Italy

More trials for these conditions

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