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

NCT03173300 | Completed

• 1 other identifier: GLY-000
• Study Type: observational
• Target: 139
• Locations: 9 countries
• Sites: 11

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).

Conditions

Phosphomannomutase 2 Deficiency

Keywords

PMM2-CDG; CDG-Ia

Outcome Measures

Primary Outcomes (1)

• Collect clinical and biological information in patients with CDG-PMM2

  Growth parameter, organ function tests, developmental tests, standard laboratory tests, disease severity score according to Nijmegen Paediatric CDG Rating Scale (NPCRS)

  up to 5 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with PMM2-CDG, all ages

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Glycomine, Inc.: lead

Study Sites (11)

Mayo Clinic College of Medicine

Rochester, Minnesota, 55905, United States

Location

Children's Hospital of Philadelphia (CHOP)

Philadelphia, Pennsylvania, 19104, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

University Hospital Leuven

Leuven, Belgium, Belgium

Location

General University Hospital in Prague

Prague, Czechia

Location

Necker Enfants-Malades Hospital

Paris, France

Location

University Hospital of Catania

Catania, Italy

Location

Radboud University Nejmegen Medical Center

Nijmegen, Netherlands

Location

Mother and Child Institute (Instytut Matki i Dziecka)

Warsaw, Poland

Location

Centro Hospitalar do Porto

Porto, Portugal

Location

Hospital Sant Joan de Déu

Barcelona, Spain

Location

Related Publications (2)

• Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Berat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Ounap K. Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. Hum Mutat. 2024 Oct 3;2024:8813121. doi: 10.1155/2024/8813121. eCollection 2024.

  PMID: 40225925 DERIVED

• Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? Mol Genet Metab. 2021 Aug;133(4):397-399. doi: 10.1016/j.ymgme.2021.06.003. Epub 2021 Jun 11.

  PMID: 34140212 DERIVED

MeSH Terms

Conditions

Congenital disorder of glycosylation type 1A

Study Officials

• Chief Medical Officer

  Glycomine, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 30, 2017
• First Posted: June 1, 2017
• Study Start: January 8, 2018
• Primary Completion: April 9, 2026
• Study Completion: April 9, 2026
• Last Updated: July 8, 2026

Record last verified: 2026-07

Locations

BE (1); IT (1); ES (1); US (3); PT (1); FR (1); CZ (1); NL (1); PL (1)