Ignite Creation Date:
2025-12-26 @ 12:17 PM
Ignite Modification Date:
2025-12-29 @ 6:49 PM
Study NCT ID:
NCT03173300
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-11-18
First Post:
2017-05-30
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Natural History Study Protocol in PMM2-CDG (CDG-Ia)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['United Kingdom']}, 'conditionBrowseModule': {'meshes': [{'id': 'C535739', 'term': 'Congenital disorder of glycosylation type 1A'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 120}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2018-01-08', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-11', 'completionDateStruct': {'date': '2026-03', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-11-14', 'studyFirstSubmitDate': '2017-05-30', 'studyFirstSubmitQcDate': '2017-05-30', 'lastUpdatePostDateStruct': {'date': '2025-11-18', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2017-06-01', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-03', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Collect clinical and biological information in patients with CDG-PMM2', 'timeFrame': 'up to 5 years', 'description': 'Growth parameter, organ function tests, developmental tests, standard laboratory tests, disease severity score according to Nijmegen Paediatric CDG Rating Scale (NPCRS)'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['PMM2-CDG', 'CDG-Ia'], 'conditions': ['Phosphomannomutase 2 Deficiency']}, 'referencesModule': {'references': [{'pmid': '40225925', 'type': 'DERIVED', 'citation': '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': '34140212', 'type': 'DERIVED', 'citation': '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.'}]}, 'descriptionModule': {'briefSummary': 'Clinical and Basic Investigations into Phosphomannomutase deficiency (PMM2-CDG)\n\nThis is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia).', 'detailedDescription': "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."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with PMM2-CDG, all ages', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Informed consent/assent by the patient and/or their legally authorized representative\n* Confirmed diagnosis of PMM2-CDG, based on enzymatic or molecular tests\n* Willing and able to adhere to study requirements described in the protocol and consent/assent documents\n\nExclusion Criteria:\n\n* Known or suspected differential diagnosis of any other known CDG (not PMM2-CDG)\n* Currently using investigational drug\n* Blood loss of ≥ 250 mL or donated blood within 56 days, or donated plasma within 7 days before study screening'}, 'identificationModule': {'nctId': 'NCT03173300', 'briefTitle': 'Natural History Study Protocol in PMM2-CDG (CDG-Ia)', 'organization': {'class': 'INDUSTRY', 'fullName': 'Glycomine, Inc.'}, 'officialTitle': 'Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG)', 'orgStudyIdInfo': {'id': 'GLY-000'}}, 'contactsLocationsModule': {'locations': [{'zip': '55905', 'city': 'Rochester', 'state': 'Minnesota', 'country': 'United States', 'facility': 'Mayo Clinic College of Medicine', 'geoPoint': {'lat': 44.02163, 'lon': -92.4699}}, {'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'country': 'United States', 'facility': "Children's Hospital of Philadelphia (CHOP)", 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'zip': '98105', 'city': 'Seattle', 'state': 'Washington', 'country': 'United States', 'facility': "Seattle Children's Hospital", 'geoPoint': {'lat': 47.60621, 'lon': -122.33207}}, {'city': 'Leuven', 'state': 'Belgium', 'country': 'Belgium', 'facility': 'University Hospital Leuven', 'geoPoint': {'lat': 50.87959, 'lon': 4.70093}}, {'city': 'Prague', 'country': 'Czechia', 'facility': 'General University Hospital in Prague', 'geoPoint': {'lat': 50.08804, 'lon': 14.42076}}, {'city': 'Paris', 'country': 'France', 'facility': 'Necker Enfants-Malades Hospital', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Catania', 'country': 'Italy', 'facility': 'University Hospital of Catania', 'geoPoint': {'lat': 37.49223, 'lon': 15.07041}}, {'city': 'Nijmegen', 'country': 'Netherlands', 'facility': 'Radboud University Nejmegen Medical Center', 'geoPoint': {'lat': 51.8425, 'lon': 5.85278}}, {'city': 'Warsaw', 'country': 'Poland', 'facility': 'Mother and Child Institute (Instytut Matki i Dziecka)', 'geoPoint': {'lat': 52.22977, 'lon': 21.01178}}, {'city': 'Porto', 'country': 'Portugal', 'facility': 'Centro Hospitalar do Porto', 'geoPoint': {'lat': 41.1485, 'lon': -8.61097}}, {'city': 'Barcelona', 'country': 'Spain', 'facility': 'Hospital Sant Joan de Déu', 'geoPoint': {'lat': 41.38879, 'lon': 2.15899}}], 'overallOfficials': [{'name': 'Chief Medical Officer', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Glycomine, Inc.'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Glycomine, Inc.', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}