Ignite Creation Date:
2025-12-26 @ 12:17 PM
Ignite Modification Date:
2025-12-29 @ 6:49 PM
Study NCT ID:
NCT03173300
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-11-18
First Post:
2017-05-30
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Natural History Study Protocol in PMM2-CDG (CDG-Ia)
Sponsor:
Glycomine, Inc.
Organization:
Study Overview
Official Title:
Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG)
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2025-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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).
This is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia).
Detailed Description:
Subjects enrolled in this natural history study will be thoroughly examined for signs and symptoms of PMM2-CDG. Medical history, physical examination, laboratory testing and imaging studies will be performed during a single consultation. Follow-up will occur every 3- 6 months at a minimum, depending on the standard of care at the investigator's institution as well as the clinical status of the individual patient. All medical procedures are routine. No new therapy is offered as part of this study, and no change in the patients routine therapy is dictated by this protocol. The International Co-Operative Ataxia Rating Scale (ICARS) is to be performed every 3 months as an optional assessment. No randomization will be performed.
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: