Active — Not RecruitingNot Applicable

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

United States, Belgium, Czechia120 participantsStarted 2018-01-08

Plain-language summary

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).

Who can participate

SexALL

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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

What they're measuring

Collect clinical and biological information in patients with CDG-PMM2

Timeframe: up to 5 years

Trial details

NCT IDNCT03173300

SponsorGlycomine, Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2026-03

View on ClinicalTrials.gov More Phosphomannomutase 2 Deficiency trials