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

Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG)

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03173300

Enrollment

139

Registered

2017-06-01

Start date

2018-01-08

Completion date

2026-04-09

Last updated

2026-07-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Phosphomannomutase 2 Deficiency

Keywords

PMM2-CDG, CDG-Ia

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).

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Collect clinical and biological information in patients with CDG-PMM2	up to 5 years	Growth parameter, organ function tests, developmental tests, standard laboratory tests, disease severity score according to Nijmegen Paediatric CDG Rating Scale (NPCRS)

Countries

Belgium, Czechia, France, Italy, Netherlands, Poland, Portugal, Spain, United States

Contacts

STUDY_DIRECTORChief Medical Officer

Glycomine, Inc.

Outcome results