Ignite Creation Date:
2025-12-24 @ 5:57 PM
Ignite Modification Date:
2026-02-25 @ 11:47 PM
Study NCT ID:
NCT03701568
Status:
COMPLETED
Last Update Posted:
2023-09-01
First Post:
2018-09-27
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
A RETROspective Study of Patients With TK2d
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D018908', 'term': 'Muscle Weakness'}, {'id': 'D009123', 'term': 'Muscle Hypotonia'}, {'id': 'D003680', 'term': 'Deglutition Disorders'}, {'id': 'D001763', 'term': 'Blepharoptosis'}], 'ancestors': [{'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020879', 'term': 'Neuromuscular Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D004935', 'term': 'Esophageal Diseases'}, {'id': 'D005767', 'term': 'Gastrointestinal Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D010608', 'term': 'Pharyngeal Diseases'}, {'id': 'D010038', 'term': 'Otorhinolaryngologic Diseases'}, {'id': 'D005141', 'term': 'Eyelid Diseases'}, {'id': 'D005128', 'term': 'Eye Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D003841', 'term': 'Deoxycytidine'}, {'id': 'D013936', 'term': 'Thymidine'}], 'ancestors': [{'id': 'D003562', 'term': 'Cytidine'}, {'id': 'D011741', 'term': 'Pyrimidine Nucleosides'}, {'id': 'D011743', 'term': 'Pyrimidines'}, {'id': 'D006573', 'term': 'Heterocyclic Compounds, 1-Ring'}, {'id': 'D006571', 'term': 'Heterocyclic Compounds'}, {'id': 'D003853', 'term': 'Deoxyribonucleosides'}, {'id': 'D009705', 'term': 'Nucleosides'}, {'id': 'D009706', 'term': 'Nucleic Acids, Nucleotides, and Nucleosides'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'When available, test reports maybe obtained (eg, reports from genetic testing, muscle biopsy) as well as available research biological samples (eg, blood or tissue samples that may be tested for biomarkers of disease and/or effects of medications to treat the mitochondrial disease).'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 38}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2018-11-19', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-08', 'completionDateStruct': {'date': '2019-05-31', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-08-29', 'studyFirstSubmitDate': '2018-09-27', 'studyFirstSubmitQcDate': '2018-10-08', 'lastUpdatePostDateStruct': {'date': '2023-09-01', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2018-10-10', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2019-04-30', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Diagnosis', 'timeFrame': '3 months', 'description': 'genetic testing (previously conducted)'}], 'secondaryOutcomes': [{'measure': 'Clinical course', 'timeFrame': '3 months', 'description': 'BMI (height in inches and weight in kg will be combined to report BMI in kg/m\\^2)'}, {'measure': 'Clinical course', 'timeFrame': '3 months', 'description': 'achievement, loss, or regaining of developmental motor milestones'}, {'measure': 'Motor function and ambulatory assessments', 'timeFrame': '3 months', 'description': 'Change in 6-minute walk test \\[6MWT\\] distance (in meters)'}, {'measure': 'Motor function and ambulatory assessments', 'timeFrame': '3 months', 'description': 'Motor Function Measure \\[MFM\\] 20 or MFM 32'}, {'measure': 'Motor function and ambulatory assessments', 'timeFrame': '3 months', 'description': 'Egen Klassifikation'}, {'measure': 'Motor function and ambulatory assessments', 'timeFrame': '3 months', 'description': 'North Star Ambulatory Assessment'}, {'measure': 'Motor function and ambulatory assessments', 'timeFrame': '3 months', 'description': "Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders \\[CHOP INTEND\\]"}, {'measure': 'Motor function and ambulatory assessments', 'timeFrame': '3 months', 'description': 'Hammersmith Functional Motor Scale-Expanded \\[HFMSE\\]'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['myopathy, muscle weakness, hypotonia, dysphagia, ptosis'], 'conditions': ['Thymidine Kinase 2 (TK2)']}, 'referencesModule': {'references': [{'pmid': '40911819', 'type': 'DERIVED', 'citation': 'Dominguez-Gonzalez C, Chiang C, Colson AO, Rebollo Mesa I, Baixauli E, Quan J, VanMeter S, Hirano M. Pyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency: A Multicenter Retrospective Chart Review Study. Neurology. 2025 Sep 23;105(6):e213908. doi: 10.1212/WNL.0000000000213908. Epub 2025 Sep 5.'}]}, 'descriptionModule': {'briefSummary': 'This is a medical chart review study to collect information for patients who have been taking pyrimidine nucleosides for treatment of TK2 deficiency. Information from the time of onset of symptoms will be collected to describe the pre treatment course of TK2 deficiency.', 'detailedDescription': 'Data to be collected from the time of onset of symptoms related to TK2 deficiency includes medical conditions and/or adverse events (AEs); these should include relationship to TK2 disease and/or pyrimidine nucleosides, as appropriate, as well as date of onset and severity, when available. When available, test reports may be obtained as well as available research biological samples (eg, blood or tissue samples that may be tested for biomarkers of disease and/or effects of medications to treat the mitochondrial disease).'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with TK2 deficiency who have received treatment with pyrimidine nucleosides', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Signed informed consent by the patient or parent(s)/legally authorized representative (LAR) and/or assent by the patient (when applicable), unless the associated institutional review board (IRB) or ethics committee (EC) provides an appropriate consent waiver\n2. Confirmed genetic mutation in the TK2 gene\n3. Availability of medical records for each patient from the time of onset of symptoms\n4. Patient has taken pyrimidine nucleos(t)ides (dCMP/dTMP and/or dC/dT) as substrate enhancement therapy for TK2 deficiency\n5. Most recent patient visit at which efficacy and/or safety parameters were collected occurred between 01 June 2018 and 15 December 2018\n\nExclusion Criteria:\n\n1\\. Presence of other genetic disease or polygenic disease'}, 'identificationModule': {'nctId': 'NCT03701568', 'acronym': 'RETRO', 'briefTitle': 'A RETROspective Study of Patients With TK2d', 'organization': {'class': 'INDUSTRY', 'fullName': 'UCB Pharma'}, 'officialTitle': 'A RETROspective Study of the Combination of Pyrimidine Nucleos(t)Ides in Patients With Thymidine Kinase 2 Deficiency (TK2)', 'orgStudyIdInfo': {'id': 'MT-1621-101'}}, 'armsInterventionsModule': {'interventions': [{'name': 'dC/dT', 'type': 'DRUG', 'otherNames': ['deoxycytidine/deoxythymidine'], 'description': 'Collection of retrospective data from TK2 patients previously treated with dC/dT'}]}, 'contactsLocationsModule': {'locations': [{'zip': '10032', 'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': 'Columbia University Medical Center', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '3109601', 'city': 'Haifa', 'country': 'Israel', 'facility': 'Rambam Hospital', 'geoPoint': {'lat': 32.81303, 'lon': 34.99928}}, {'zip': '5822012', 'city': 'Holon', 'country': 'Israel', 'facility': 'Wolfson Medical Center', 'geoPoint': {'lat': 32.01034, 'lon': 34.77918}}, {'zip': '89 כביש', 'city': 'Nahariya', 'country': 'Israel', 'facility': 'Western Galilee Hospital', 'geoPoint': {'lat': 33.00892, 'lon': 35.09814}}, {'zip': '08035', 'city': 'Barcelona', 'country': 'Spain', 'facility': "Hospital Vall d'Hebron", 'geoPoint': {'lat': 41.38879, 'lon': 2.15899}}, {'zip': '08950', 'city': 'Barcelona', 'country': 'Spain', 'facility': 'Sant Joan de Déu Hospital', 'geoPoint': {'lat': 41.38879, 'lon': 2.15899}}, {'zip': '28041', 'city': 'Madrid', 'country': 'Spain', 'facility': 'Hospital 12 de Octubre', 'geoPoint': {'lat': 40.4165, 'lon': -3.70256}}, {'zip': '41013', 'city': 'Seville', 'country': 'Spain', 'facility': 'Hospital Universitario Virgen del Rocio', 'geoPoint': {'lat': 37.38283, 'lon': -5.97317}}], 'overallOfficials': [{'name': 'UCB Cares', 'role': 'STUDY_DIRECTOR', 'affiliation': '001 844 599 2273'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Zogenix MDS, Inc.', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}