Natural History Study Protocol in PMM2-CDG (CDG-Ia)
Overview
Tab Title Description
Study type
ObservationalDescribes the nature of a clinical study. Types include:
- Observational study — observes people and measures outcomes without affecting results.
- Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
- Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
Study IDs
NCT ID: NCT03173300
Sponsor Protocol Number: GLY-000
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
Publications
Publications are currently not available