[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"spinal-and-bulbar-muscular-atrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:spinal-and-bulbar-muscular-atrophy":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,47,75],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":29,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100435033","clinical-molecular-and-imaging-biomarkers-in-spinal-and-bulbar-muscular-atrophy-sbma-100435033",false,"NCT04944940","Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)","An Observational Study to Assess Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)","* INCLUSION CRITERIA:\n\nSome restrictions are placed on participation in the study because we aim to identify disease biomarkers specific to those with early to intermediate stages of disease who would be potential candidates for future therapeutic studies.\n\nIn order to be eligible to participate in the SBMA cohort, an individual must meet all of the following criteria:\n\n* Stated willingness to comply with all study procedures and availability for the duration of the study\n* Male, above the age of 18 years\n* Genetically confirmed SBMA\n* Ability of subject to understand and the willingness to sign a written informed consent document\n* Ability of subject to travel to the NIH Clinical Center.\n\nNote: an SBMA patient who meets both of the additional following criteria will be offered an optional whole body MRI at subsequent follow-up visits:\n\n* Spinal bulbar muscular atrophy functional rating of \\\u003C 50 (and \\> 35).\n* On initial whole body MRI, subject has evidence of muscle fat replacement such that the total volume of disease affected muscles (i.e., muscles with at least 10% muscle fat infiltration and no more than 50% muscle fat fraction) is at least:\n\n  * 500ml if only 1 muscle is eligible or\n  * 250ml if more than one muscle meets the criteria\n\nIn order to be eligible to participate in this study in the Healthy Control cohort, an individual must meet all of the following criteria:\n\n* Stated willingness to comply with all study procedures and availability to travel to the NIH for the duration of the study\n* Male, above the age of 18 years\n* No history of SBMA or other neuromuscular disorder\n* No history of facial palsy\n* Ability of subject to understand and the willingness to sign a written informed consent document\n* Ability of subject to travel to the NIH Clinical Center.\n\nEXCLUSION CRITERIA:\n\nSBMA is a disease that affects males and manifests in adulthood. Thus, woman and children are not included in this study. This study will not include individuals who lack consent capacity.\n\nAn SBMA patient who meets any of the following criteria will be excluded from participation in this study:\n\n* Contraindications to MRI such as a contraindicated non-removable metal device (i.e., pacemaker, defibrillator, insulin pump, metal clips, non-removable jewelry) or claustrophobia.\n* Non ambulatory\n* Use of androgen reducing agents within the past two years\n\nNote: An SBMA patient who meets any of the following criteria will be excluded from the lumbar puncture procedure:\n\n* PT\u002FPTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)\n* INR greater than or equal to 1.5, thrombocytopenia (\\\u003C70,000), or abnormal bleeding time or platelet dysfunction\n* History of a bleeding disorder\n* Use of anticoagulants\n\nNote: An SBMA patient who meets any of the following criteria will be excluded from the muscle biopsy procedure:\n\n* Advanced wasting of tibialis anterior that precludes needle muscle biopsy (in order to ensure that a sample taken would be of muscle and not just fat and fascia)\n* Use of aspirin or non-steroidal anti-inflammatory agents 3 days prior to the procedure\n\nNote: An SBMA patient who meets any of the following criteria will be excluded from the whole body MRI:\n\n* Patient has a history of prior treatment with androgen reducing agents including LHRH agonists or antagonists, androgen receptor antagonists and selective androgen receptor modifiers.\n* Patient is unable to complete the study assessments of QMT or timed walk tests.\n* Patient anticipates making major lifestyle changes during the observation period relating to diet and exercise.\n\nA Healthy Control participant who meets any of the following criteria will be excluded from the study:\n\n* PT\u002FPTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)\n* INR greater than or equal to 1.5, thrombocytopenia (\\\u003C70,000), or abnormal bleeding time or platelet dysfunction\n* History of a bleeding disorder\n* Use of anticoagulants",true,"MALE","18 Years","120 Years",{"count":21,"type":22},70,"ESTIMATED","OBSERVATIONAL","Background:\n\nSBMA is an inherited chronic disease. It affects males in mid to late adulthood. It causes slowly progressive weakness of muscles and hand tremors. Researchers want to learn more about the effects of SBMA.\n\nObjective:\n\nTo identify measurements that change over time in SBMA, including tests of muscle strength and function, as well as measurements of muscle and fat size.\n\nEligibility:\n\nMen over the age of 18 both with and without a history of SBMA.\n\nDesign:\n\nParticipants will have a medical history, physical exam, and blood and urine tests. They will have neuromuscular ultrasound. They will have a lumbar puncture to obtain spinal fluid. For this, a needle will be inserted into the spinal canal in the lower back.\n\nParticipants will have muscle strength and function tests. These tests may include pushing, pulling, rising from a chair and sitting back down, and\u002For walking. During these tests, they may wear an accelerometer (activity tracker) on their wrist.\n\nParticipants will get an activity tracker to wear on their wrist for 10 days at home every 3 months.\n\nParticipants with SBMA will also have lower limb magnetic resonance imaging (MRI) and optional whole-body MRI. They will have lung function tests. They will have speech and swallow tests. They will complete questionnaires. They may have optional body scans to measure bone density and lean body mass. They may have optional muscle biopsies. For biopsies, a needle will be used to take a small piece of muscle from the leg.\n\nParticipants with SBMA will have 5 study visits over 2 years (every 6 months). Participants without SBMA will have 1 study visit.",[26,27,28],"Spinal and Bulbar Muscular Atrophy","Kennedys Disease","Motor Neuron Disease",[28,26,30,31,32,33],"Kennedys disease","Androgen Receptor","Natural History Study","Natural History","RECRUITING","2026-03-10",{"date":37,"type":38},"2026-03-11","ACTUAL",{"date":40,"type":38},"2021-10-25",{"date":42,"type":22},"2027-02-28",{"name":44,"class":45},"National Institute of Neurological Disorders and Stroke (NINDS)","NIH",1,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":52,"acronym":53,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":58,"phases":59,"briefSummary":62,"conditions":63,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":69,"leadSponsor":71,"locationsCount":74},"100582383","phase-2-clinical-trial-of-mexiletine-hydrochloride-for-spinal-and-bulbar-muscular-atrophy-100582383","NCT06862596","Clinical Trial of Mexiletine Hydrochloride for Spinal and Bulbar Muscular Atrophy","A Multicenter, Randomized, Placebo-controlled, Double-blind Clinical Trial: The Efficacy and Safety of Mexiletine Hydrochloride for Amelioration of Motor Dysfunction in Spinal and Bulbar Muscular Atrophy","Med-SBMA","Inclusion Criteria:\n\n1. Male patients with a CAG repeat count of 38 or more for the androgen receptor gene in genetic testing and a confirmed diagnosis of SBMA\n2. Patients with muscle weakness (limb weakness and atrophy, or bulbar palsy) due to lower motor neuron lesion\n3. Patients with a total ALSFRS-R score of ≥ 24 and ≤ 42 at screening\n4. Patients who are at least 18 years old and less than 80 years old at the time of consent\n5. Patients who give their voluntary written consent after having received adequate information on this study (However, if the patient is unable to sign the consent form due to the condition of the disease, a person equivalent to a regal representative must be present to provide written explanation, the prospective candidate must verbally consent to participate in the study, and a person equivalent to a regal representative must sign the consent form on behalf of the patient. The person who is to be the regal representative may sign the document on his\u002Fher behalf, noting the circumstances and his\u002Fher relationship to the subject.)\n\nExclusion Criteria:\n\n1. Patients who have participated or are participating in a clinical trial within 12 weeks prior to enrollment\n2. Patients with a history of hypersensitivity to any component of this drug product\n3. Patients with a conduction disturbance (such as second- or third-degree atrioventricular block without a pacemaker, or left bundle branch block)\n4. Patients with Brugada-type ECG\n5. Patients with severe heart failure or heart disease (myocardial infarction, valvular disease, cardiomyopathy, etc.)\n6. Patients with sinus bradycardia (\\\u003C50 beats\u002Fminute)\n7. Patients with systolic blood pressure of 90 mmHg or less\n8. Patients with serum potassium level less than 3.5 mmol\u002FL\n9. Patients on antiarrhythmic drugs\n10. Patients on antiepileptic drugs that affect to sodium channels\n11. Patients on theophylline\n12. Patients on narcotics\n13. Patients who used Mexiletine within 1 month prior to enrollment or used Mexiletine for expectations of improvement in symptoms of SBMA\n14. Patients with serious complications\n15. Patients who cannot agree to use contraception during the study period\n16. Other Patients deemed inappropriate by the investigator or subinvestigator","80 Years",{"count":57,"type":22},68,"INTERVENTIONAL",[60,61],"PHASE2","PHASE3","The purpose of this clinical trial is to evaluate the efficacy and safety of mexiletine hydrochloride in patients with spinal and bulbar muscular atrophy.\n\nThe main questions it aims to answer are:\n\nDoes mexiletine hydrochloride improve the ALSFRS-R score in spinal and bulbar muscular atrophy patients?\n\nParticipants will:\n\nTake mexiletine hydrochloride or a placebo every day for 3 months Visit the hospital once every 4 weeks for evaluations.",[26],"2025-04-11",{"date":66,"type":38},"2025-04-16",{"date":68,"type":38},"2025-02-28",{"date":70,"type":22},"2027-12-31",{"name":72,"class":73},"Masahisa Katsuno","OTHER",5,{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":80,"acronym":81,"eligibilityCriteria":82,"healthyVolunteers":11,"sex":83,"minAge":18,"maxAge":84,"enrollmentInfo":85,"targetDuration":4,"studyType":58,"phases":87,"briefSummary":88,"conditions":89,"keywords":90,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":94,"lastUpdatePostDateStruct":95,"startDateStruct":97,"completionDateStruct":99,"leadSponsor":100,"locationsCount":46},"100529074","phase-2-a-placebo-controlled-study-of-clenbuterol-in-spinal-and-bulbar-muscular-atrophy-100529074","NCT06169046","A Placebo-controlled Study of Clenbuterol in Spinal and Bulbar Muscular Atrophy","A Placebo-controlled Study to Evaluate the Efficacy and Safety of Clenbuterol in Patients With Spinal and Bulbar Muscular Atrophy (SBMA)","BetaSBMA","Inclusion Criteria:\n\n1. males who have received a genetically confirmed diagnosis of SBMA (AR CAG repeat number \\>= 38);\n2. aged between 18 and 75 (+364 days) years;\n3. displaying one or more of the following clinical symptoms: muscle atrophy, limb weakness, bulbar palsy;\n4. able to walk independently with or without a cane or other supporting device (all supporting devices are acceptable except on wheelchair);\n5. providing a written informed consent.\n\nExclusion Criteria:\n\n1. a documented cardiovascular disease precluding the use of beta2 agonists (in the judgment of the investigators);\n2. glaucoma, severe prostatic hypertrophy, hyperthyroidism, pheochromocytoma, and other medical conditions that, in the judgment of the investigators, would expose the patient to undue risk of harm or prevent the patient from completing the study;\n3. concomitant treatment with either beta-blockers or sympathomimetic drugs (If a beta-blockers concomitant medication is ongoing before the study inclusion, the patient can be enrolled if the beta-blocker is discontinued for 3 weeks prior to randomization visit);\n4. inability to walk or walking only with the support of a caregiver;\n5. use of beta2 agonists in the preceding 6 months;\n6. participation to an interventional trial in the preceding 3 months;\n7. neuromuscular disease other than SBMA.","ALL","75 Years",{"count":86,"type":22},90,[60],"There is no cure to arrest or delay SBMA progression. It is estimated that \\~1000 individuals are affected by SBMA in Italy at any given time (prevalence: 1.5\u002F100000) with an annual incidence of 0.19\u002F100000 males. Here, we are going to test the potential of beta2-agonist stimulation on muscle as a therapeutic avenue for SBMA. We have provided pre-clinical evidence that β-agonist stimulation may be a therapeutic strategy for SBMA. Moreover, we have shown that beta2-agonists are effective in improving motor function without relevant adverse events in a small cohort of SBMA patients. To establish safety and efficacy of clenbuterol as a cure for SBMA, we are conducting a multicenter, phase II, randomized, double-blind, parallel-group, single dose, placebo-controlled trial. Indeed, based on our preliminary data, some concerns remain to be addressed.",[26],[91,92,93],"SBMA","clenbuterol","trial","2024-04-12",{"date":96,"type":38},"2024-04-15",{"date":98,"type":38},"2024-04-13",{"date":70,"type":22},{"name":101,"class":73},"Gianni Soraru"]