[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100504907":3},{"organization":4,"armGroups":7,"interventions":18,"overallOfficials":23,"centralContacts":27,"locations":33,"responsibleParty":50,"collaborators":52,"id":56,"slug":57,"hasResults":58,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":62,"eligibilityCriteria":63,"healthyVolunteers":64,"sex":65,"minAge":66,"maxAge":67,"enrollmentInfo":68,"targetDuration":10,"studyType":71,"phases":10,"briefSummary":72,"conditions":73,"keywords":76,"overallStatus":35,"whyStopped":10,"lastUpdateSubmitDate":87,"lastUpdatePostDateStruct":88,"startDateStruct":91,"completionDateStruct":93,"leadSponsor":95,"locationsCount":96},{"fullName":5,"class":6},"Wake Forest University Health Sciences","OTHER",[8,14],{"label":9,"type":10,"description":11,"interventionNames":12},"Myotonic dystrophy types 1 and 2",null,"Adults with myotonic dystrophy types 1 and 2 who meet all inclusion and exclusion criteria for the study.\n\nTo be assessed at the baseline visit: Medical history and a focused neurological examination, brain MRI, a comprehensive Clinical Assessment Battery (CAB) of cognitive and motor measures, self-reported questionnaires, strength and motor function evaluation, and blood drawn for biomarker analysis.\n\nA subset of the participants who agree to have cerebrospinal fluid (CSF) collection for additional biomarker analysis will undergo lumbar puncture procedure.",[13],"Other: Non-interventional study",{"label":15,"type":10,"description":16,"interventionNames":17},"Controls","Healthy individuals who meet all inclusion and exclusion criteria for healthy controls.\n\nTo be assessed at the baseline visit: Medical history and a focused neurological examination, brain MRI, a comprehensive Clinical Assessment Battery (CAB) of cognitive and motor measures, self-reported questionnaires, strength and motor function evaluation, and blood drawn for biomarker analysis.\n\nA subset of the participants who agree to have cerebrospinal fluid (CSF) collection for additional biomarker analysis will undergo lumbar puncture procedure.",[13],[19],{"type":6,"name":20,"description":21,"armGroupLabels":22,"otherNames":10},"Non-interventional study","No intervention will be administered as part of this study.",[15,9],[24],{"name":25,"affiliation":5,"role":26},"Araya Puwanant, MD, MS","PRINCIPAL_INVESTIGATOR",[28],{"name":29,"role":30,"phone":31,"phoneExt":10,"email":32},"Constance Linville","CONTACT","336-716-4568","clinvill@wakehealth.edu",[34],{"facility":5,"status":35,"city":36,"state":37,"zip":38,"country":39,"countryCode":40,"cosmosGeoPoint":41,"geoPoint":46,"contacts":47},"RECRUITING","Winston-Salem","North Carolina","27157","United States","US",{"type":42,"coordinates":43},"Point",[44,45],-80.24422,36.09986,{"lat":45,"lon":44},[48,49],{"name":29,"role":30,"phone":31,"phoneExt":10,"email":32},{"name":25,"role":26,"phone":10,"phoneExt":10,"email":10},{"type":51,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[53],{"name":54,"class":55},"National Institute of Neurological Disorders and Stroke (NINDS)","NIH","100504907","brain-structure-and-clinical-endpoints-in-myotonic-dystrophy-type-2-100504907",false,"NCT05854433","Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2","Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)","BraCE-DM2","DM 2 Inclusion Criteria:\n\n* Age 30-65 years old\n* Diagnosis of DM1 or DM2 is based on genetic testing and\u002For clinical criteria. If the diagnosis is based on clinical criteria, positive DM2 genetic testing is required in first-degree relatives\n* Symptoms or clinical findings of proximal muscle weakness\n* Ambulate independently (a cane or walking stick is permitted)\n* Able to provide informed consent for participation in the study\n\nDM1 Inclusion Criteria:\n\n* Only individuals who are 30-65 years old will be eligible to participate for the full study protocol\n* Diagnosis of adult-onset DM1 is based on genetic testing or clinical criteria. If the diagnosis is based on clinical criteria, positive DM1 genetic testing is required in first-degree relatives\n* The onset of first symptoms must be between the 2nd and 4th decades of life\n* Symptoms or clinical findings of distal muscle weakness and myotonia\n* Ambulate independently (a cane or walking stick is permitted)\n* Able to provide informed consent for participation in the study\n\nDM 1 Exclusion Criteria:\n\n* Congenital or juvenile-onset DM1 (onset of first symptom \\\u003C 20-year-old)\n* Individuals with a prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases\n* Individuals with active psychiatric illness or alcohol\u002Fsubstance abuse.\n* On medications with substantial sedative or cognitive side effects unless the doses have been stable for at least 3 months before the study visit.\n* Inability or unwillingness to give written informed consent.\n\nDM 1 and 2 and Healthy Control (HC) Exclusion Criteria:\n\n* Individuals with a pacemaker, defibrillator, or metal implanted that is contraindicated for MRI\n* Individuals who are claustrophobic\n* Individuals with a prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases\n* Individuals with active psychiatric illness, alcohol or substance abuse, or dependence\n* Individuals with a pacemaker, defibrillator, or metal implanted that is contraindicated for MRI\n* Individuals who are claustrophobic\n* Major medical illness which would prevent safe testing of MRI or motor function.\n* On medications with substantial sedative or cognitive side effects unless the doses have been stable over the last 3 months before the study visit\n* pregnancy\n* Weight \\> 400 pounds as the participant could not be properly positioned on the MRI table\n* Inability or unwillingness to give written informed consent\n* For participants who undergo lumbar puncture procedure: Use of anti-platelet medications within 7 days, use of anticoagulants such as warfarin (Coumadin), history of a bleeding disorders, evidence of platelet count \\\u003C 150,000 within the last 6 months, or have hardware (i.e., pins, screws, rods, etc.) in the lower back area\n\nHealthy Control (HC) Inclusion Criteria:\n\n* Age 30-65 years\n* Ambulate independently\n* Able to provide informed consent for participation in the study",true,"ALL","30 Years","65 Years",{"count":69,"type":70},100,"ESTIMATED","OBSERVATIONAL","Nearly two-third of patients with myotonic dystrophy type 2 (DM2) report that impaired cognition is among the most disabling symptoms and deeply affects their quality of life. Yet, relatively little is known about how DM2 affects brain structure and cognitive function as brain imaging studies in DM2 are extremely limited. This is a prospective, cross-sectional study of brain structure and function on cognitive and motor performance in patients with DM2 \\& DM1 compared to healthy controls. All participants will undergo magnetic resonance imaging (MRI) to evaluate brain structure and white matter integrity, a comprehensive battery of cognitive and motor measures, self-reported questionnaires, and blood collection for brain-based biomarker analysis. A subset of participants will undergo lumbar puncture for cerebrospinal fluid (CSF) collection for additional biomarker analysis and validation. This work is critical to inform the development of rigorous clinical trial designs and plan for a longitudinal study to evaluate MRI measures as imaging biomarkers of disease progression and therapeutic response in DM2 \\& DM1.",[74,75],"Myotonic Dystrophy Type 2","Myotonic Dystrophy Type 1",[77,78,79,80,81,82,83,84,85,86],"myotonic dystrophy","muscular dystrophy","cognitive dysfunction","memory","brain","central nervous system","MRI","biomarkers","white matter","neurodegenerative diseases","2026-01-29",{"date":89,"type":90},"2026-02-02","ACTUAL",{"date":92,"type":90},"2023-04-26",{"date":94,"type":70},"2027-06",{"name":5,"class":6},1]