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

Overview

About this study

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). Data from this natural history study will be used to determine a set of clinical and biological parameters that will be used for primary and secondary endpoints in a later clinical trial with a new chemical entity, Lipo-M1P.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

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)
Plan to use investigational drug during study participation
Blood loss of >250 mL or donated blood within 56 days, or donated plasma within 7 days, of study screening

More information

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