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Natural History Study Protocol in PMM2-CDG (CDG-Ia)
Sponsor: Glycomine, Inc.
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).
Official title: Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG)
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
120
Start Date
2018-01-08
Completion Date
2026-03
Last Updated
2025-11-18
Healthy Volunteers
No
Conditions
Locations (11)
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, 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
Mother and Child Institute (Instytut Matki i Dziecka)
Warsaw, Poland
Centro Hospitalar do Porto
Porto, Portugal
Hospital Sant Joan de Déu
Barcelona, Spain