Ignite Creation Date:
2025-12-26 @ 10:59 AM
Ignite Modification Date:
2025-12-29 @ 4:50 PM
Study NCT ID:
NCT00004306
Status:
COMPLETED
Last Update Posted:
2012-03-06
First Post:
1999-10-18
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D013132', 'term': 'Spinocerebellar Degenerations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D001523', 'term': 'Mental Disorders'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D002526', 'term': 'Cerebellar Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D013118', 'term': 'Spinal Cord Diseases'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'DNA from blood and skin and muscle biopsy samples.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 18}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '1999-11'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2012-03', 'completionDateStruct': {'date': '2009-03', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2012-03-05', 'studyFirstSubmitDate': '1999-10-18', 'studyFirstSubmitQcDate': '1999-10-18', 'lastUpdatePostDateStruct': {'date': '2012-03-06', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '1999-10-19', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2009-03', 'type': 'ACTUAL'}}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['hereditary ataxia', 'neurologic and psychiatric disorders', 'rare disease'], 'conditions': ['Hereditary Ataxia']}, 'descriptionModule': {'briefSummary': 'OBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies.\n\nII. Perform detailed clinical evaluations on patients with recessively inherited ataxias.', 'detailedDescription': 'PROTOCOL OUTLINE: Participants undergo a comprehensive clinical and molecular evaluation. Studies include: neurologic evaluation, including magnetic resonance imaging and nerve conduction studies; ophthalmologic exam; audiologic exam, including auditory brain stem evoked response; DNA extraction from blood, skin and muscle; genotype phenotype correlation.\n\nA neuropathologic evaluation is conducted postmortem, when possible.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '3 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with inherited ataxia', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion criteria:\n\nSubjects who have the diagnosis of SCA10 and their immediate relatives.\n\nExclusion criteria:\n\nChildren under 3 years of age, pregnant women, prisoners, mentally incapacitated subjects, and subjects who do not give consent.'}, 'identificationModule': {'nctId': 'NCT00004306', 'briefTitle': 'Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)', 'organization': {'class': 'NIH', 'fullName': 'Office of Rare Diseases (ORD)'}, 'officialTitle': 'Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)', 'orgStudyIdInfo': {'id': '199/11796'}}, 'contactsLocationsModule': {'locations': [{'zip': '77555', 'city': 'Galveston', 'state': 'Texas', 'country': 'United States', 'facility': 'University of Texas Medical Branch at Galveston', 'geoPoint': {'lat': 29.30135, 'lon': -94.7977}}], 'overallOfficials': [{'name': 'Tetsuo Ashizawa, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of Texas, Galveston'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Office of Rare Diseases (ORD)', 'class': 'NIH'}, 'collaborators': [{'name': 'The University of Texas Medical Branch, Galveston', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor and Chair, Department of Neurology, The University of Texas Medical Branch', 'investigatorFullName': 'Tetsuo Ashizawa', 'investigatorAffiliation': 'Office of Rare Diseases (ORD)'}}}}