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

Active, not recruiting

• Conditions: Phosphomannomutase 2 Deficiency

• Registration Number: NCT03173300
• Lead Sponsor: Glycomine, Inc.

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.

Study Timeline

• Study First Submitted: 2017-05-30
• Study First Submitted QC: 2017-05-30
• Study First Posted: 2017-06-01
• Study Start: 2018-01-08
• Status Verified: 2024-09
• Last Update Submitted: 2025-04-30
• Last Update Posted: 2025-05-04
• Primary Completion: 2025-09
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 120

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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)

Trial Locations

Locations (11)

Mother and Child Institute (Instytut Matki i Dziecka); 🇵🇱 Warsaw, Poland

Centro Hospitalar do Porto; 🇵🇹 Porto, Portugal

Mayo Clinic College of Medicine; 🇺🇸 Rochester, Minnesota, United States

Children's Hospital of Philadelphia (CHOP); 🇺🇸 Philadelphia, Pennsylvania, United States

Seattle Children's Hospital; 🇺🇸 Seattle, Washington, United States

University Hospital Leuven; 🇧🇪 Leuven, Belgium

General University Hospital in Prague; 🇨🇿 Prague, Czechia

Necker Enfants-Malades Hospital; 🇫🇷 Paris, France

University Hospital of Catania; 🇮🇹 Catania, Italy

Radboud University Nejmegen Medical Center; 🇳🇱 Nijmegen, Netherlands

Hospital Sant Joan de Déu; 🇪🇸 Barcelona, Spain