[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"myotonic-dystrophy-type-1\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:myotonic-dystrophy-type-1":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,9,0,[8,56,82,110,135,168,187,216,244],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":22,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":33,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":44,"lastUpdatePostDateStruct":45,"startDateStruct":48,"completionDateStruct":50,"leadSponsor":52,"locationsCount":55},"100053754","establishing-biomarkers-and-clinical-endpoints-in-myotonic-dystrophy-type-1-end-dm1-extension-100053754",false,"NCT07700225","Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Extension","END-EXT","Inclusion Criteria:\n\n* Age 18 to 70 years (inclusive)\n* Written, voluntary informed consent must be obtained prior to any study procedures. In cases where a Legally Authorized Representative (LAR) provides consent, verbal assent will be obtained from the subject, as determined by the investigator and documented directly on the consent form. Capacity to consent will be determined by the neurologist at the Baseline visit and will be signed off on the Inclusion\u002FExclusion checklist.\n* Clinical diagnosis of DM1 based on research criteria or positive genetic test. The research criteria for clinical diagnosis of DM1 require myotonia, muscle weakness in a characteristic distribution, and history of similar findings in a first degree relative. Genetic testing confirmed the diagnosis of DM1 in \\> 99% of individuals who satisfied these criteria. OR A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (\\\u003C30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for 3 days or more; and a genetic test suspicious of an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or first degree relative. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\\>1,500)\n\nExclusion Criteria:\n\n* Symptomatic renal or liver disease, uncontrolled diabetes or thyroid disorder, or active malignancy other than in situ skin cancer.\n* Current alcohol or substance use disorder.\n* Concurrent pregnancy or planned pregnancy during the course of the study.\n* Concurrent medical condition that would, in the opinion of the investigator or clinical evaluator. compromise performance on study measures.\n* Use of mexiletine or other anti-myotonia agents within 72 hours of any study visit.","ALL","18 Years","70 Years",{"count":20,"type":21},1000,"ESTIMATED","4 Years","OBSERVATIONAL","Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder that causes progressive disability and shortened life expectancy. It is characterized by progressive weakness and myotonia, which preferentially affects the craniofacial, hand, and distal leg muscles. Many patients also experience difficulties with cognition, cardiac arrhythmias, respiratory failure, or cataracts. Currently there is no treatment to slow progression or reverse the symptoms.",[26,27,28,29,30,31,32],"DM1","Myotonic Dystrophy","Myotonic Dystrophy 1","Myotonic Dystrophy Type 1","Myotonic Dystrophy Type-1","Myotonic Dystrophy, Type 1 (DM1)","Myotonic Muscular Dystrophy",[26,14,34,29,35,36,37,38,39,40,41,42],"END-DM1 Extension","Steinert's Disease","Muscular Dystrophy","Neuromuscular Disease","DMPK","Natural History","Myotonia","DMCRN","Myotonic Dystrophy Clinical Research Network","RECRUITING","2026-07-08",{"date":46,"type":47},"2026-07-13","ACTUAL",{"date":49,"type":21},"2026-07",{"date":51,"type":21},"2032-12",{"name":53,"class":54},"Virginia Commonwealth University","OTHER",1,{"id":57,"slug":58,"hasResults":11,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":62,"eligibilityCriteria":63,"healthyVolunteers":11,"sex":16,"minAge":64,"maxAge":65,"enrollmentInfo":66,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":68,"conditions":69,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":73,"lastUpdatePostDateStruct":74,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":55},"100640537","remote-assessments-and-genetic-determinants-of-congenital-and-childhood-myotonic-dystrophy-100640537","NCT07630389","Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy","REACH DM KIDS: Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy","REACH-DM KIDS","Inclusion Criteria:\n\n* Age 0-17 years\n* Clinical diagnosis of congenital, childhood, or juvenile DM1\n* English speaking\n* Parent or guardian willing to assist and provide consent for participation\n* If appropriate based on age and developmental level, child willing to provide assent for their own participation\n* Available wifi\n\nExclusion Criteria:\n\n* Presence of any other non-DM1 illness or disease (e.g. other neuromuscular disorder, cerebral palsy, or other genetic or acquired disorder affecting the central or peripheral nervous system) that could interfere with study results in the opinion of the site investigator\n* Significant recent trauma or injury prior to the RSV that could affect functional assessment","0 Years","17 Years",{"count":67,"type":21},100,"Myotonic dystrophy type 1 (DM1) can affect people in many different ways, even in the same family. The symptoms that children experience can be different and more severe than adults. Prior studies in children have been limited because only a small number of children could participate. In this study, we hope to learn more about these differences and what causes them.\n\nThis is an observational study conducted in participants' homes and does not require travel. Instead, we will use video calls to talk with children and their parents\u002Fguardians about DM1 symptoms and how it affects the child's muscles, heart, and brain. We'll send families an iPad and the other tools they need for the study. During the video call, kids will do some simple activities to see how their body moves and functions. Parents\u002Fguardians might need to help their child with some of these activities.\n\nAfter the video visit, we'll get a small blood sample from the child. This can be done at a local lab or even at home. We'll then look at the child's genes in the blood sample to understand how they might be linked to their symptoms. Parents\u002Fguardians can chose to have their child's genetic test result returned to them.",[29,70,71,72],"Congenital DM1","Juvenile DM1","Childhood DM1","2026-06-01",{"date":75,"type":47},"2026-06-05",{"date":77,"type":47},"2023-11-13",{"date":79,"type":21},"2030-01-01",{"name":81,"class":54},"University of Rochester",{"id":83,"slug":84,"hasResults":11,"nctId":85,"briefTitle":86,"officialTitle":86,"acronym":4,"eligibilityCriteria":87,"healthyVolunteers":11,"sex":16,"minAge":88,"maxAge":17,"enrollmentInfo":89,"targetDuration":4,"studyType":91,"phases":92,"briefSummary":94,"conditions":95,"keywords":98,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":102,"lastUpdatePostDateStruct":103,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":108,"locationsCount":55},"100578265","music-intervention-for-brain-heart-disease-in-myotonic-dystrophy-type-1-dm1-100578265","NCT06809049","Music Intervention for Brain-Heart Disease in Myotonic Dystrophy Type 1 (DM1)","Inclusion Criteria:\n\n* Participants between the ages of 6 to 18 with genetically confirmed congenital or infantile-onset myotonic dystrophy type 1 (DM1).\n* Participants willing to stay on stable medication from the day of screening to end of study.\n\nExclusion Criteria:\n\n* Insufficient English language skills to complete required assessments and questionnaires.\n* Participant is non-verbal.\n* Failure to provide signed informed consent by participant or designated decision maker (i.e. parent, legal guardian or power of attorney).\n* Failure to provide signed informed consent by parents\u002Fcaregivers for dyad participation.\n* Participant is not a resident of Canada, due to risk of attrition.\n* Patients for whom - in the opinion of the investigator - it would not be safe to participate in the study.","6 Years",{"count":90,"type":21},13,"INTERVENTIONAL",[93],"NA","The goal of this interventional study is to demonstrate the feasibility and tolerability of music and movement intervention for children with congenital DM1, while providing indications of its effectiveness in improving brain and heart symptoms of DM1. Additionally, information from the collection of biological samples and wearable devices (accelerometer, EEG headband and ECG chest strap) will be used to identify brain-heart biomarkers and outcome measures for use in future research and trials.\n\nResearchers will compare the results of physical and cognitive assessments for each participant to assessments from baseline after 10 weeks of weekly music sessions. Qualitative measures (questionnaires and focus groups) will inform the feasibility of this intervention for this population. The main questions this study aims to answer are:\n\n* Are weekly music education sessions feasible for children with DM1?\n* Are weekly music education sessions tolerable for children with DM1?\n\nParticipants will:\n\n* Attend 45-minute-long music sessions once weekly for 10 weeks.\n* Attend two clinic visits for cognitive and physical assessments.\n* Provide blood, saliva, stool and urine samples.\n* Use wearable devices both at-home and during music sessions.\n* Parents\u002Fcaregivers of participants will complete questionnaires and participate in three focus groups.\n\nProgression from feasibility study to a full-scale clinical trial will be informed by four progression criteria:\n\n1. The feasibility of attendance, as assessed by attendance rate to 10 music sessions (≥ 60%)\n2. Feasibility of attendance, as rated by parents\u002Fcaregivers of participants (≥60% rate \"extremely\" or \"very\" practical to attend)\n3. Attrition rate of the study, as determined by percentage of participants who complete the study (≥ 60%)\n4. Overall satisfaction, as rated by parents\u002Fcaregivers of participants (≥60% rate \"very satisfied\" or \"satisfied\")",[96,31,29,97],"Myotonic Dystrophy, Congenital","Myotonic Dystrophy Type 1 (DM1)",[99,100,26,101],"Music intervention","Myotonic dystrophy","Rare disease","2026-02-17",{"date":104,"type":47},"2026-02-19",{"date":106,"type":47},"2025-03-25",{"date":49,"type":21},{"name":109,"class":54},"Hanns Lochmuller",{"id":111,"slug":112,"hasResults":11,"nctId":113,"briefTitle":114,"officialTitle":115,"acronym":116,"eligibilityCriteria":117,"healthyVolunteers":118,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":119,"targetDuration":121,"studyType":23,"phases":4,"briefSummary":122,"conditions":123,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":125,"lastUpdatePostDateStruct":126,"startDateStruct":128,"completionDateStruct":130,"leadSponsor":132,"locationsCount":134},"100622578","the-spanish-national-registry-for-myotonic-dystrophy-type-1-100622578","NCT07385443","The Spanish National Registry for Myotonic Dystrophy Type 1","Creación de un Nodo Integral Para la Distrofia Miotónica Tipo 1 en España: Registro clínico, Mapas genómicos, epigenómicos y proteómicos (DM1-Hub)","DM1-Hub","Inclusion Criteria:\n\n* Confirmed diagnosis of Myotonic Dystrophy Type 1 (DM1) through genetic testing.\n\nExclusion Criteria:\n\n* There are no exclusion criteria for the registry",true,{"count":120,"type":21},3000,"10 Years","Myotonic Dystrophy Type 1 (DM1) is a rare genetic neuromuscular condition that can affect multiple organs and varies widely in how it presents. DM1 is the most common form of adult-onset muscular dystrophy, with an estimated prevalence of approximately 1-5 per 10,000 people. In Spain, the condition shows notable regional differences, making it especially important to understand its characteristics within the population.\n\nThe aim of this study is to support a research initiative designed to better characterise DM1. We are developing a comprehensive national registry, collecting patient-reported information, clinical data and omics data that will improve our understanding of the disease and help identify individuals who may be eligible for clinical trials.",[28,26,29,96,124],"Steinert Disease","2026-01-29",{"date":127,"type":47},"2026-02-04",{"date":129,"type":47},"2025-06-02",{"date":131,"type":21},"2026-12-31",{"name":133,"class":54},"Fundació Institut Germans Trias i Pujol",8,{"id":136,"slug":137,"hasResults":11,"nctId":138,"briefTitle":139,"officialTitle":140,"acronym":141,"eligibilityCriteria":142,"healthyVolunteers":118,"sex":16,"minAge":143,"maxAge":144,"enrollmentInfo":145,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":146,"conditions":147,"keywords":149,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":125,"lastUpdatePostDateStruct":160,"startDateStruct":162,"completionDateStruct":164,"leadSponsor":166,"locationsCount":55},"100504907","brain-structure-and-clinical-endpoints-in-myotonic-dystrophy-type-2-100504907","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","30 Years","65 Years",{"count":67,"type":21},"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.",[148,29],"Myotonic Dystrophy Type 2",[150,151,152,153,154,155,156,157,158,159],"myotonic dystrophy","muscular dystrophy","cognitive dysfunction","memory","brain","central nervous system","MRI","biomarkers","white matter","neurodegenerative diseases",{"date":161,"type":47},"2026-02-02",{"date":163,"type":47},"2023-04-26",{"date":165,"type":21},"2027-06",{"name":167,"class":54},"Wake Forest University Health Sciences",{"id":169,"slug":170,"hasResults":11,"nctId":171,"briefTitle":172,"officialTitle":172,"acronym":4,"eligibilityCriteria":173,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":174,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":176,"conditions":177,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":178,"lastUpdatePostDateStruct":179,"startDateStruct":181,"completionDateStruct":183,"leadSponsor":185,"locationsCount":55},"100521907","cerebrospinal-fluid-biomarkers-of-myotonic-dystrophy-100521907","NCT06075693","Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy","Inclusion Criteria:\n\n* Subjects with DM1 based on genetic testing and\u002For clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done).\n* Unaffected subjects are unknown to have myotonic dystropphy or any other muscular dystrophy by history and may have had no genetic testing.\n* Clinical indicators of current status, as measured within 30 days of study start: Able to provide informed consent or assent for participation in the study.\n* Demographic characteristics (e.g., biologic sex, age): Males and females age 18 years and older.\n\nExclusion Criteria:\n\n* Medical history of any of the following. State of immunosuppression; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and\u002For C positive.\n* Medications and other drugs. Use of anticoagulants within 60 days prior to lumbar puncture and\u002For blood draw. Use of anti-platelet drugs within 7 days prior to blood draw.\n* Contraindications to MRI. The presence of any metal within the body, which would include any medical device containing metal, such as a pacemaker, defibrillator, some heart valves or stents, artificial joint, aneurysm clip, or inner ear device, a history of working with sheet metal, or an injury with metal shrapnel; pregnancy, due to effects of MRI on unborn children.\n* Contraindications to Lumbar Puncture. Evidence of increased intracranial pressure or active infection on exam; platelets less than 50,000.\n* Other. Inability or unwillingness of the subject to give written informed consent.",{"count":175,"type":21},88,"Myotonic dystrophy is associated with central sleep apnea, excessive daytime sleepiness, diminished working memory, impaired visuospatial skills, and deficits in problem-solving skills.\n\nCerebrospinal fluid (CSF) is a clear, colorless fluid that surrounds and protects the brain.\n\nChanges in the composition of CSF can serve as early indicators of changes in brain activity and function. The purpose of this research is to learn about myotonic dystrophy by examining cerebrospinal fluid and brain activity in participants. The tests will be low risk and are well tolerated. The information that we gather from this study may help us evaluate, prevent, diagnose, treat, and improve our understanding of myotonic dystrophy. Funding Source- FDA OOPD",[29],"2025-11-19",{"date":180,"type":47},"2025-11-24",{"date":182,"type":47},"2022-08-01",{"date":184,"type":21},"2028-08-01",{"name":186,"class":54},"Massachusetts General Hospital",{"id":188,"slug":189,"hasResults":11,"nctId":190,"briefTitle":191,"officialTitle":192,"acronym":4,"eligibilityCriteria":193,"healthyVolunteers":118,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":194,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":195,"conditions":196,"keywords":200,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":208,"lastUpdatePostDateStruct":209,"startDateStruct":211,"completionDateStruct":213,"leadSponsor":215,"locationsCount":55},"100063959","myotonic-dystrophy-and-facioscapulohumeral-muscular-dystrophy-registry-100063959","NCT00082108","Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry","National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members","Inclusion Criteria:\n\n* Diagnosed with DM, FSHD, or related diseases or are an unaffected family member of someone diagnosed with one of these diseases",{"count":120,"type":21},"Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers.",[27,197,36,29,148,198,199,35,32],"Facioscapulohumeral Muscular Dystrophy","Congenital Myotonic Dystrophy","PROMM (Proximal Myotonic Myopathy)",[201,202,203,36,204,27,26,205,206,207],"Registry","FSHD","DM","Facioscapulohumeral Myotonic Dystrophy","DM2","FSH","MMD","2025-10-10",{"date":210,"type":47},"2025-10-15",{"date":212,"type":4},"2000-09",{"date":214,"type":21},"2028-06",{"name":81,"class":54},{"id":217,"slug":218,"hasResults":11,"nctId":219,"briefTitle":220,"officialTitle":221,"acronym":4,"eligibilityCriteria":222,"healthyVolunteers":11,"sex":223,"minAge":17,"maxAge":4,"enrollmentInfo":224,"targetDuration":4,"studyType":91,"phases":226,"briefSummary":227,"conditions":228,"keywords":230,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":235,"lastUpdatePostDateStruct":236,"startDateStruct":238,"completionDateStruct":240,"leadSponsor":242,"locationsCount":55},"100540433","pelvic-floor-muscle-training-for-women-with-myotonic-dystrophy-100540433","NCT06316778","Pelvic Floor Muscle Training for Women with Myotonic Dystrophy","Pelvic Floor Muscle Training for Urinary Incontinence in Women with Myotonic Dystrophy Type 1: a Feasibility and Acceptability Study","Inclusion Criteria:\n\n* confirmed medical diagnosis of myotonic dystrophy type 1 (DM1) with adult phenotype\n* symptoms of stress, urge or mixed urinary incontinence\n* able to give a free and informed consent\n\nExclusion Criteria:\n\n* being pregnant, have given birth by vaginal delivery in the last year or plan to become pregnant in the next six months\n* present post-void residual urine ≥ 150 ml\n* have medical conditions that may have an impact on the symptoms of urinary incontinence and the response to treatments\n* present fecal incontinence (≥ 1\u002Fweek) or significant prolapse (beyond the hymen)\n* have already received physiotherapy treatments in pelvic floor rehabilitation or surgery on the perineum\n* have a defibrillator, pacemaker or bladder stimulator","FEMALE",{"count":225,"type":21},12,[93],"Myotonic dystrophy type 1 (DM1) is a neuromuscular disease characterized by multisystem manifestations. DM1 can affect the urinary system through the impact of the pelvic floor muscles (PFM). Urinary incontinence can occur in this situation and is often offset with compensatory measures without restoring the PFM function (e.g. sanitary pads). PFM training have already been shown to be effective in reducing or even eliminating urinary incontinence in the general population. However, no study has been the subject of this modality in people with DM1. Having recently shown that it is possible to gain strength with DM1, a strengthening protocol targeting PFM could prove effective in treating urinary incontinence. The objectives of this study are i) to assess the feasibility and acceptability of PFM training and ii) to investigate the effects of PFM training in women with DM1 with adult phenotype. A quasi-experimental study will be conducted with 12 women having a confirmed diagnosis of DM1 with urinary incontinence. Participants will follow a 12-week PFM training program, comprising weekly sessions with an experienced physiotherapist as well as a home exercise program. Outcomes measures will be assessed at baseline and at post-treatment and will include: feasibility and acceptability variables, frequency of urinary incontinence, urogynecological symptoms and their impact on quality of life, morphometry and function of PFM, and the perceived improvement following the treatments. This study has the potential to improve the management of urinary incontinence and support the implementation of pelvic floor rehabilitation services in this population.",[29,229],"Urinary Incontinence",[231,232,233,234],"Neuromuscular disease","Physiotherapy","Exercises","Urinary incontinence","2025-02-20",{"date":237,"type":47},"2025-02-24",{"date":239,"type":47},"2024-03-11",{"date":241,"type":21},"2026-12-30",{"name":243,"class":54},"Université de Sherbrooke",{"id":245,"slug":246,"hasResults":11,"nctId":247,"briefTitle":248,"officialTitle":249,"acronym":4,"eligibilityCriteria":250,"healthyVolunteers":118,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":251,"targetDuration":4,"studyType":91,"phases":253,"briefSummary":254,"conditions":255,"keywords":4,"overallStatus":259,"whyStopped":4,"lastUpdateSubmitDate":260,"lastUpdatePostDateStruct":261,"startDateStruct":263,"completionDateStruct":265,"leadSponsor":267,"locationsCount":55},"100561952","wheelchair-skills-training-for-people-with-arsacs-and-dm1-100561952","NCT06596850","Wheelchair Skills Training for People with ARSACS and DM1","Efficacy of Wheelchair Skills Training to Improve Mobility for People with ARSACS and DM1","Inclusion Criteria:\n\n* ≥18 years of age, have a diagnosis of ARSACS or DM1, and use a manual WC for mobility (≥3 times\u002Fweek for ≥8 hours\u002Fweek).\n\nExclusion Criteria:\n\n* anticipate a health condition or procedure that contraindicates training (e.g., surgery); or concurrently or planning to receive WC training during the study.",{"count":252,"type":21},20,[93],"Wheelchairs (WC) are often provided to people with ARSACS and MD1 when they are not able to walk anymore. However, giving someone a MWC alone does not guarantee they will use it safely or properly. Many people who use WC need help from others to get around and they can not always do the things they like to do. This can lead to isolation, stress, and reduced quality of life. In addition, poor use of a MWC could lead to accidents and injuries. Our team recently showed that people with ARSACS have lower MWC skills than other adults who use MWC, and that teaching MWC skills to people with ARSACS seems to work. Now we are ready to test the program with more people with ARSACS and MD1 to see how it can improve MWC mobility and confidence. We also want to hear about people's expectations and experiences with MWC training. People who take part in research will answer questions before and after WC training, and we will follow up with them 3 months later to ask again about their WC use.\n\nThis projects directly adresses the mobility needs of people with ARSACS and MD1 who use MWC. Our results may improve how therapists provide training for MWC use, which may improve mobility, participation, and quality of life for people with ARSACS and MD1. Learning just one MWC skill could be life-changing. It could mean the difference between leaving the house or not, which could impact the ability to shop for groceries, see friends, or to have a job.",[256,257,258,29],"Wheelchair Mobility","Manual Wheelchair Skills Training","ARSACS","NOT_YET_RECRUITING","2024-09-13",{"date":262,"type":47},"2024-09-19",{"date":264,"type":21},"2024-09-15",{"date":266,"type":21},"2026-04-30",{"name":268,"class":54},"Laval University"]