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

Phosphomannomutase 2 Deficiency Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03173300
• Other study ID #: GLY-000
• Status: Active, not recruiting
• Start date: January 8, 2018
• Est. completion date: December 2024

Study information

• Verified date: January 2022
• Source: Glycomine, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

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 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. No randomization will be performed.

All serious and non-serious adverse events will be recorded in the study CRF database.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 120
• Est. completion date: December 2024
• Est. primary completion date: September 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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, of study screening

Related Conditions & MeSH terms

• Phosphomannomutase 2 Deficiency

Locations

Country	Name	City	State
Belgium	University Hospital Leuven	Leuven
Czechia	General University Hospital in Prague	Prague
France	Necker Enfants-Malades Hospital	Paris
Italy	University Hospital of Catania	Catania
Netherlands	Radboud University Nejmegen Medical Center	Nijmegen
Poland	Mother and Child Institute (Instytut Matki i Dziecka)	Warsaw
Portugal	Centro Hospitalar do Porto	Porto
Spain	Hospital Sant Joan de Déu	Barcelona
United States	Tulane University Medical Center	New Orleans	Louisiana
United States	Children's Hospital of Philadelphia (CHOP)	Philadelphia	Pennsylvania
United States	Children's Hospital of Pittsburgh	Pittsburgh	Pennsylvania
United States	Mayo Clinic College of Medicine	Rochester	Minnesota
United States	Seattle Children's Hospital	Seattle	Washington

Sponsors (1)

Lead Sponsor	Collaborator
Glycomine, Inc.

Countries where clinical trial is conducted

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

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	collect clinical and biological information in patients with CDG-PMM2		up to 4 years