Natural History Study Protocol in PMM2-CDG (CDG-Ia)

Completed

Conditions studied: Phosphomannomutase 2 Deficiency

In brief

Clinical and Basic Investigations into Phosphomannomutase deficiency (PMM2-CDG) This is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia).

Key facts

Study ID

NCT03173300

Run by

Glycomine, Inc.

People needed

139

Starts

2018-01-08

Expected to finish

2026-04-09

Last updated by the study team

2026-07-08

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Mayo Clinic College of Medicine — Rochester, Minnesota, United States
• Children's Hospital of Philadelphia (CHOP) — Philadelphia, Pennsylvania, United States
• Seattle Children's Hospital — Seattle, Washington, United States
• University Hospital Leuven — Leuven, Belgium, Belgium
• General University Hospital in Prague — Prague, Czechia
• Necker Enfants-Malades Hospital — Paris, France
• University Hospital of Catania — Catania, Italy
• Radboud University Nejmegen Medical Center — Nijmegen, Netherlands
• Mother and Child Institute (Instytut Matki i Dziecka) — Warsaw, Poland
• Centro Hospitalar do Porto — Porto, Portugal
• Hospital Sant Joan de Déu — Barcelona, Spain

Full record on ClinicalTrials.gov

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