Ignite Creation Date:
2025-12-24 @ 4:32 PM
Ignite Modification Date:
2026-01-04 @ 5:40 PM
Study NCT ID:
NCT04799366
Status:
COMPLETED
Last Update Posted:
2023-03-30
First Post:
2021-03-11
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009224', 'term': 'Myotonia Congenita'}], 'ancestors': [{'id': 'D020967', 'term': 'Myotonic Disorders'}, {'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 36}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2021-02-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-03', 'completionDateStruct': {'date': '2021-12-01', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-03-29', 'studyFirstSubmitDate': '2021-03-11', 'studyFirstSubmitQcDate': '2021-03-11', 'lastUpdatePostDateStruct': {'date': '2023-03-30', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-03-16', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-12-01', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Contractile properties', 'timeFrame': '1 year', 'description': 'To investigate if contractile properties of the muscles are impaired in MC patients compared with healthy controls.'}], 'secondaryOutcomes': [{'measure': 'Measuring muscle hypertrophy in upper and lower limbs', 'timeFrame': '1 year', 'description': 'Visualizing and measuring hypertrophy on MRI of affected muscles in the forearm, thigh and calf of MC patients compared with muscles in healthy controls.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Non-Dystrophic Myotonia', 'Myotonia Congenita']}, 'descriptionModule': {'briefSummary': 'In myotonia congenita (MC), mutations in the CLCN1 gene coding a key chloride channel expressed in muscle cells cause myotonia. On examination, the myotonia can be demonstrated as delayed muscle relaxation of muscle contractions after mechanical stimulations. Existing literature describe no muscle weakness in MC patients, however a recent muscle MRI study in non-dystrophic myotonia patients found structural abnormalities in affected muscles when examined using T1 and STIR imaging. The question remains whether the signs of structural changes in the muscle are merely due to the myotonia, or long-term effects of elevated stress of the tissue, and if so, whether those changes lead to clinically significant loss of contractile properties of the muscle.\n\nThis study examines if the contractile properties of myotonic muscles are impaired in MC patients. 40 patients with Thomsens disease (n=20) and Beckers disease (n=20), respectively, will be included along with 20 healthy controls. Peak muscle torque is measured in the hand by hand dynamometer and in the thigh and calf muscles with a Biodex System 4 Pro Dynamometer and the cross-sectional area of the muscles are examined on T1-weighed and Dixon-MRI-scan. With the obtained data peak torque in strength tests, muscle hypertrophy, fat fraction in muscle tissue and contractility of the muscles, compared with healthy controls, will be assessed.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '80 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '40 patients (Thomsens MC, n=20; Beckers MC, n=20) will be included along with 20 healthy age- and gender-matched controls. Inclusion criteria are age \\>18 years, verified MC diagnosis. Exclusion criteria areknown competing disorders that can interfere with the results (ie. muscular diseases or arthritis) or MRI contraindications.\n\nBefore participation patients are asked about medication status. Participants who are treated for their myotonic symptoms with either Mexiletin or Lamotrigin are asked to pause their medication four days prior to participation.\n\nAll patients will be asked to evaluate the severity of their myotonic symptoms using the MBS (Myotonic Behaviour Scale) rating from 1 (least severe) to 6 (most severe).', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Age \\<18 years\n* Molecularly verified MC (Thomsens or Beckers disease)\n\nExclusion Criteria:\n\n* Conditions that may impair results of the study, evaluated by the investigator\n* Clausphobia\n* Pregnancy or breastfeeding\n* Metallic objects in and around the body that are not MR-compatible'}, 'identificationModule': {'nctId': 'NCT04799366', 'briefTitle': 'Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia', 'organization': {'class': 'OTHER', 'fullName': 'Rigshospitalet, Denmark'}, 'officialTitle': 'Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia', 'orgStudyIdInfo': {'id': 'H-18023049-1'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'MC', 'description': 'MC patients with either dominant (Thomsens) or recessive (Becker) myotonia.'}, {'label': 'Healthy Controls', 'description': 'Healthy controls age- and gender matched.'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Copenhagen', 'country': 'Denmark', 'facility': 'Rigshospitalet', 'geoPoint': {'lat': 55.67594, 'lon': 12.56553}}], 'overallOfficials': [{'name': 'Laura Jacobsen, BSc', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Rigshospitalet, Denmark'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Rigshospitalet, Denmark', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'BSc', 'investigatorFullName': 'Laura Nørager Jacobsen', 'investigatorAffiliation': 'Rigshospitalet, Denmark'}}}}