Ignite Creation Date:
2025-12-24 @ 9:10 PM
Ignite Modification Date:
2025-12-29 @ 2:38 PM
Study NCT ID:
NCT01250704
Status:
UNKNOWN
Last Update Posted:
2010-12-01
First Post:
2010-11-29
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Inherited Myokymia: A Clinical and Genetic Study of a Family
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D020386', 'term': 'Isaacs Syndrome'}, {'id': 'D020385', 'term': 'Myokymia'}], 'ancestors': [{'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D010523', 'term': 'Peripheral Nervous System Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020879', 'term': 'Neuromuscular Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': "Genomic DNA was extracted from each patient's peripheral blood leukocytes using Genomaker DNA extraction kit (Blossom, Taipei, Taiwan). The complete KCNA1 coding region, including the intron/exon boundaries, was amplified according to the procedure reported by Imbrici et al"}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 18}}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2010-04'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2010-11', 'lastUpdateSubmitDate': '2010-11-29', 'studyFirstSubmitDate': '2010-11-29', 'studyFirstSubmitQcDate': '2010-11-29', 'lastUpdatePostDateStruct': {'date': '2010-12-01', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2010-12-01', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2011-03', 'type': 'ESTIMATED'}}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ["Neuromyotonia, Isaac's syndrome; Peripheral nerve hyperexcitability; Myokymia; Potassium channelopathy"], 'conditions': ["A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome"]}, 'descriptionModule': {'briefSummary': "Neuromyotonia (NMT), so called Isaac's syndrome, is a rare disorder in which hyperexcitability of peripheral motor nerves leads to intermittent muscle contractions. It is characterized by muscle twitching at rest (visible myokymia), cramps, hyperhidrosis, paraesthesiae, mild muscle weakness. and impaired muscle relaxation, or pseudomyotonia. Electromyographic recording is a key diagnostic tool in detecting myokymia and neuromyotonia. Pathophysiology of neuromyotonia is claimed to be related immune disorder, autoimmune anti-voltage-gated potassium-channel antibodies and genetic mutation in potassium channel. KCNA1 (Kv1.1) mutation was mostly reported in a autosomal dominant trait. In the present study, we report a family affected with myokymia，worsening with elevated body temperature, febrile illness or spicy food. How the change in temperature influence clinical features of channelopathies is an interesting topic. Variant clinical severity of family members are recorded. The index patient has possible autoimmune mechanism involvement because of his clinical feature of myasthenia gravis with thymoma and hyperthyroidism. Further analyzing the genetic mutation in potassium channelopathy may provide researchers some pathophysiological insight into the Isaac's syndrome."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'We interview and examine the family members directly at our hospital and home visit or indirectly by telephone visit.', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* The disease was initially diagnosed of Isaacs syndrome by two neurologist(Dr Tsai and Dr Yang). We will recruit family members of diseased patient and normal subjects for clinical, electromyographic and genetic studies.\n\nExclusion Criteria:\n\n* none'}, 'identificationModule': {'nctId': 'NCT01250704', 'briefTitle': 'Inherited Myokymia: A Clinical and Genetic Study of a Family', 'organization': {'class': 'OTHER', 'fullName': 'China Medical University Hospital'}, 'officialTitle': 'Inherited Myokymia: A Clinical and Genetic Study of a Family', 'orgStudyIdInfo': {'id': 'DMR99-IRB-190'}}, 'contactsLocationsModule': {'locations': [{'zip': '404', 'city': 'Taichung', 'state': 'Taiwan', 'status': 'RECRUITING', 'country': 'Taiwan', 'facility': 'China medical university hospital', 'geoPoint': {'lat': 24.1469, 'lon': 120.6839}}, {'zip': '404', 'city': 'Taichung', 'status': 'NOT_YET_RECRUITING', 'country': 'Taiwan', 'contacts': [{'name': 'Chon-Haw Tsai, MD, PhD', 'role': 'CONTACT', 'email': 'windymovement@yahoo.com.tw', 'phone': '886-4-22062121', 'phoneExt': '5030'}, {'name': 'Yi-Ting Hsu, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Chon-Haw Tsai, MD,PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Yu-Wan Yang, MD,MS', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'FUU-JEN Tsai, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'China Medical University Hospital', 'geoPoint': {'lat': 24.1469, 'lon': 120.6839}}, {'zip': '404', 'city': 'Taichung', 'status': 'RECRUITING', 'country': 'Taiwan', 'contacts': [{'name': 'Yi-ting Hsu, MD', 'role': 'CONTACT', 'email': 'formosa1005@yahoo.com.tw', 'phone': '886-4-22062121', 'phoneExt': '5039'}], 'facility': 'China medical university hospital', 'geoPoint': {'lat': 24.1469, 'lon': 120.6839}}], 'centralContacts': [{'name': 'Yi-ting Hsu, MD', 'role': 'CONTACT', 'email': 'formosa1005@yahoo.com.tw', 'phone': '886-4-22062121', 'phoneExt': '5039'}], 'overallOfficials': [{'name': 'Yi-Ting Hsu, MD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'China Medical University Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'China Medical University Hospital', 'class': 'OTHER'}, 'responsibleParty': {'oldNameTitle': 'Department of Medical Research', 'oldOrganization': 'China Medical University Hospital'}}}}