[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"spinal-muscular-atrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:spinal-muscular-atrophy":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,19,0,[8,51,83,111,136,161,205,235,260,290,319,344,365,396,430,462,486,506,535],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":40,"lastUpdatePostDateStruct":41,"startDateStruct":44,"completionDateStruct":46,"leadSponsor":48,"locationsCount":4},"100627436","phase-4-assessing-the-real-world-safety--effectiveness-of-spinal-muscular-atrophy-participants-treated-with-intrathecal-onasemnogene-abeparvovec-brve-oav101b-itvisma-a-us-pragmatic-multicenter-study-stream-100627436",false,"NCT07448610","ASsessing The REAl-world Safety & Effectiveness of Spinal Muscular Atrophy Participants Treated With Intrathecal Onasemnogene Abeparvovec-brve (OAV101B) (ITVISMA®): A U.S. Pragmatic Multicenter Study (STREAM)","Onasemnogene Abeparvovec: ASsessing The REAl-world Safety & Effectiveness of Spinal Muscular Atrophy Participants Treated With Intrathecal Onasemnogene Abeparvovec-brve (ITVISMA®): A U.S. Pragmatic Multicenter Study (STREAM)","Key Inclusion Criteria:\n\nA participant will be enrolled in STREAM only if all the following conditions are met:\n\n* The participant has a genetically confirmed diagnosis of SMA (biallelic SMN1 deletion or mutation).\n* He or she is ≥ 2 years of age on the day of the intrathecal injection.\n* The treating Investigator intends to administer within the current episode of care, a single dose of ITVISMA® (1.2 × 10¹⁴ vg) in routine U.S. practice after written informed consent obtained.\n* One of the following functional categories applies at screening:\n\n  1. independently ambulatory child\u002Fadolescent 2 - \\\u003C18 years; or\n  2. independently ambulatory adult (≥ 18 years).\n  3. non-ambulatory (includes walkers with assistance) adult \\> 18 years with entry level RULM at baseline\n* At least 1 year of pre-treatment medical history, including motor-function documentation, can be retrieved from the site electronic record.\n\nKey Exclusion Criteria:\n\nA participant will be excluded if any of the following conditions apply:\n\n* Contraindication for lumbar puncture as determined by the investigator (e.g., spinal anatomy that precludes safe lumbar puncture)\n* An uncontrolled acute illness, active infection, febrile illness or acute medical condition, within 30 days prior to dosing\n* Inability to tolerate corticosteroids administered by mouth or gastrostomy tube\n* Current participation in another interventional clinical trial that would interfere with the objectives or endpoints of STREAM. Note: participation in observational cohort studies or non-interventional studies in which the participant does not receive treatment or undergo procedures which may compromise this study data integrity may be allowed following Sponsor approval\n* Planned relocation or any circumstance that is likely to prevent completion of the minimum 12-month follow-up.\n\nOther protocol inclusion, exclusion criteria may apply.","ALL","2 Years","100 Years",{"count":20,"type":21},36,"ESTIMATED","INTERVENTIONAL",[24],"PHASE4","The primary purpose is to address critical evidence in the treatment landscape for Spinal Muscular Atrophy (SMA), specifically focusing on the intrathecal formulation of onasemnogene abeparvovec-brve (ITVISMA®). U.S. Pragmatic Multicenter Study (STREAM).",[27],"Spinal Muscular Atrophy",[29,30,31,32,33,34,35,36,37,38],"Spinal muscular atrophy","SMA","onasemnogene abeparvovec-brve","intrathecal gene therapy","ITVISMA®","real-world evidence","sponsor-funded","real-world pragmatic trial;","motor function","safety.","NOT_YET_RECRUITING","2026-05-28",{"date":42,"type":43},"2026-05-29","ACTUAL",{"date":45,"type":21},"2026-07-01",{"date":47,"type":21},"2032-06-30",{"name":49,"class":50},"Novartis Pharmaceuticals","INDUSTRY",{"id":52,"slug":53,"hasResults":11,"nctId":54,"briefTitle":55,"officialTitle":56,"acronym":4,"eligibilityCriteria":57,"healthyVolunteers":11,"sex":16,"minAge":58,"maxAge":4,"enrollmentInfo":59,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":62,"conditions":63,"keywords":64,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":75,"completionDateStruct":77,"leadSponsor":79,"locationsCount":82},"100589552","characterizing-perceived-physical-fatigability-in-nusinersen-treated-sma-100589552","NCT06955897","Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA","Characterizing Perceived Physical Fatigability in Nusinersen-treated Adolescents and Adults: The SMA EFFORT","Inclusion Criteria:\n\n1. All types of 5qSMA (homozygous deletion or point mutation of the SMN1 gene and any number of SMN2 copies)\n2. Receiving a stable dosing regimen of 12 or 28 mg nusinersen for at least 6 months\n\nExclusion Criteria:\n\n1. An injury or surgery within the previous 3 months that would impact their ability to perform in-clinic function and\u002For fatigability assessments\n2. Enrolled in an ongoing clinical trial, or extension study, expanded access program, or long-term registry of an investigational or recently approved medication\n3. Receiving adjuvant and\u002For dual therapy (e.g., muscle-targeted, NMJ, or symptomatic treatments)","12 Years",{"count":60,"type":21},45,"OBSERVATIONAL","The purpose of this project is to investigate the utility of the SMA EFFORT, an SMA-specific patient-reported outcome measure, to assess perceived physical fatigability that is anchored to intensity and duration of activities. We aim to characterize perceived physical fatigability (PPF) in a diverse cohort of people with SMA (pwSMA) and evaluate the change of PPF before and after nusinersen dosing.",[27],[65,66,67,68,69,30,70],"spinal muscular atrophy","neuromuscular disease","nusinersen","fatigability","exercise","fatigue","RECRUITING","2026-05-12",{"date":74,"type":43},"2026-05-14",{"date":76,"type":43},"2025-04-24",{"date":78,"type":21},"2027-02-26",{"name":80,"class":81},"Columbia University","OTHER",1,{"id":84,"slug":85,"hasResults":11,"nctId":86,"briefTitle":87,"officialTitle":88,"acronym":89,"eligibilityCriteria":90,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":17,"enrollmentInfo":91,"targetDuration":4,"studyType":22,"phases":93,"briefSummary":95,"conditions":96,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":101,"lastUpdatePostDateStruct":102,"startDateStruct":104,"completionDateStruct":106,"leadSponsor":108,"locationsCount":110},"100596567","phase-2-a-study-to-evaluate-how-apitegromab-works-in-subjects-who-are-less-than-2-years-old-and-have-spinal-muscular-atrophy-100596567","NCT07047144","A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy","A Phase 2, Double-Blind Study to Evaluate the Pharmacokinetics, Pharmacodynamics, Efficacy, and Safety of Apitegromab in Subjects \u003C2 Years Old With Spinal Muscular Atrophy (SMA)","OPAL","Inclusion Criteria:\n\n1. Is \\\u003C2 years old at the time of the informed consent\n2. Had a gestational age of ≥35 weeks and gestational body weight ≥2.0 kg at birth\n3. Has confirmed diagnosis of 5q autosomal recessive SMA\n4. Has confirmed presence of SMN2 gene copy(ies)\n5. Must have been treated with an approved SMN1-targeted therapy (ie, onasemnogene abeparvovec-xioi) or are continuing to be treated with an approved SMN2-targeted therapy (ie, nusinersen or risdiplam)\n6. Body weight for age is no less than 1st percentile based on the WHO Child Growth Standards at the Screening Visit\n7. Has delayed motor milestones for age attributed to SMA at the discretion of the Investigator or a CHOP-INTEND score \\\u003C55\n\nExclusion Criteria:\n\n1. Nutritional status that is not anticipated to be stable throughout the study or medical necessity for a gastric feeding tube, where most feeds are administered by this route\n2. Major orthopedic issues such as severe scoliosis or severe contractures or interventional procedure, including spine or hip surgery, which is considered to have the potential to substantially limit the ability of the subject to be evaluated on any motor function outcome measures, within 6 months before Screening or anticipated during the study\n3. Any other physical limitations (eg, the subject requires cast for contractures) that would prevent the subject from undergoing motor function outcome measures throughout the study.",{"count":92,"type":21},52,[94],"PHASE2","This double-blind, Phase 2, multiple-dose study will be conducted to evaluate the PK\u002FPD, efficacy, safety, and tolerability of apitegromab in subjects \\\u003C2 years old with 5q autosomal recessive SMA who have delayed motor milestones for their age attributed to SMA at the discretion of the Investigator or a Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score \\\u003C55.",[27,30,97,98,99,100],"Spinal Muscular Atrophy Type 2","Spinal Muscular Atrophy Type 3","Neuromuscular Manifestations","Anti-myostatin","2026-04-29",{"date":103,"type":43},"2026-05-01",{"date":105,"type":43},"2025-09-15",{"date":107,"type":21},"2029-03",{"name":109,"class":50},"Scholar Rock, Inc.",25,{"id":112,"slug":113,"hasResults":11,"nctId":114,"briefTitle":115,"officialTitle":116,"acronym":117,"eligibilityCriteria":118,"healthyVolunteers":11,"sex":16,"minAge":119,"maxAge":120,"enrollmentInfo":121,"targetDuration":4,"studyType":22,"phases":123,"briefSummary":125,"conditions":126,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":127,"lastUpdatePostDateStruct":128,"startDateStruct":130,"completionDateStruct":132,"leadSponsor":134,"locationsCount":82},"100627118","phase-3-a-study-to-learn-about-salanersens-biib115-effects-on-movement-and-its-safety-in-participants-aged-15-to-60-years-with-spinal-muscular-atrophy-sma-who-are-either-new-to-sma-treatment-or-were-previously-treated-with-risdiplam-100627118","NCT07444476","A Study to Learn About Salanersen's (BIIB115) Effects on Movement and Its Safety in Participants Aged 15 to 60 Years With Spinal Muscular Atrophy (SMA) Who Are Either New to SMA Treatment or Were Previously Treated With Risdiplam","An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of Salanersen (BIIB115) in Participants Aged 15-60 Years With Spinal Muscular Atrophy Who Are Either Treatment-Naïve or Have Previously Been Treated With Risdiplam","SOLAR","Key Inclusion Criteria:\n\n* Participants aged 15 to 60 years, inclusive, at the time of informed consent\n* Participants with genetic documentation of 5q Spinal Muscular Atrophy (SMA) (homozygous gene deletion or mutation or compound heterozygous mutation).\n* Participants with clinical signs and symptoms consistent with SMA.\n* Survival motor neuron 2 (SMN2) copy number ≥ 1.\n* Participants with baseline Hammersmith Functional Motor Scale - Expanded (HFMSE) total score of ≥ 10 to ≤ 54.\n* Participants who are able to sit without using support for at least 10 seconds.\n* Participants with no prior treatment with myostatin inhibitors and a willingness to remain off concurrent myostatin inhibitor therapy for the duration of the study.\n* Ambulatory and nonambulatory participants:\n\n  * Ambulatory participants must be able to walk at least 10 meters independently without assistance and are willing and able to complete the 6 Minute Walk Test (6MWT) at Screening.\n* For participants in the treatment-naïve cohort:\n\n  * No prior treatment with an approved SMA Disease Modifying Therapy (DMT) or an investigational drug given for the treatment of SMA.\n* For participants in the risdiplam-treated cohort:\n\n  * Currently receiving risdiplam treatment and have been on once-daily 5 milligrams (mg) risdiplam treatment for at least 6 months prior to Screening.\n  * Willing to stop risdiplam therapy for the duration of the study. The last dose of risdiplam must be taken the day before the first dose of salanersen.\n  * No prior treatment with nusinersen, onasemnogene abeparvovec-xioi\u002Fonasemnogene abeparvovec-brve (OA), other approved DMTs for SMA or investigational drugs given for the treatment of SMA apart from risdiplam.\n\nKey Exclusion Criteria:\n\n* Respiratory insufficiency at Screening, defined by the medical necessity for invasive or noninvasive ventilation for \\> 6 hours during a 24-hour period (except for nocturnal bilevel positive airway pressure).\n* Medical necessity for a gastric feeding tube, where the majority of nutrition is provided by this route, as assessed by the site Investigator at Screening.\n* History of brain or spinal cord disease or other contraindications (e.g., severe scoliosis) that would interfere with the lumbar puncture (LP) procedures, Cerebrospinal fluid (CSF) circulation, efficacy assessments, or safety assessments (including a history of hydrocephalus or implanted shunt for CSF drainage), as assessed by the Investigator.\n* Hospitalization for surgery, a pulmonary event, or nutritional support within 2 months prior to Screening or plans to undergo elective procedures or surgeries at any time after signing the Informed Consent Form (ICF) through the end of the study. Note: If prior scoliosis surgery has been performed, it must be done at least 1 year prior to Screening.\n* Presence of an active medical issue (e.g., infection, recent fracture) that would make the participant unsuitable for inclusion, as assessed by the Investigator.\n* Current enrollment or a plan to enroll in any interventional clinical study in which an investigational treatment or approved therapy for investigational use is administered within 90 days or 5 half-lives of the treatment (if known), whichever is longer, prior to Screening. This includes neuromodulation therapy such as spinal cord stimulation.\n\nNote: Other protocol-defined inclusion\u002Fexclusion criteria will apply.","15 Years","60 Years",{"count":122,"type":21},90,[124],"PHASE3","In this study, researchers will learn more about the effects and safety of BIIB115, also known as salanersen.\n\nSpecifically, researchers will learn more about how salanersen works in individuals with SMA who are between the ages of 15 and 60 years old. In most people living with SMA, changes to or a lack of a gene called survival motor neuron 1 (SMN1) - often referred to as gene mutations or variants - affect how this gene works. As a result, their bodies produce less SMN protein. Without enough of this protein, motor neurons and muscles cannot work properly. There is a similar gene called SMN2 that produces SMN protein, but it usually does not produce enough SMN protein on its own to make up for the changes in the SMN1 gene. Salanersen is a drug designed to help the SMN2 gene to make more working SMN protein.\n\nIn this study, there will be 2 groups of participants: a group who has never received treatment for SMA before joining this study, and a group who has been treated with risdiplam, an approved drug for SMA . Those participants must not have received any other SMA treatments before and will need to stop their risdiplam treatment for the duration of the study.\n\nThe main goal of this study is to learn more about how salanersen affects the participants' motor function. Researchers will use different tests and questionnaires to learn if motor function is changing over the study duration.\n\nThe main question researchers want to answer in this study is:\n\n• For the group who has never been treated for SMA, how much do scores on the HFMSE movement test change at 12 months compared to the beginning of the study? The Hammersmith Functional Motor Scale - Expanded (HFMSE) has 33 activities that are scored which include sitting, lying down, walking, jumping, and more.\n\nResearchers will also learn more about:\n\n* The effects on participants' motor function and how well their nerves and muscles function.\n* The effects on participants' overall sense of change and how they perform daily activities.\n* How many participants have adverse events or serious adverse events. Adverse events are health problems that may or may not be caused by the study drug.\n* How much salanersen gets into the fluid surrounding the brain and spinal cord.\n* How much salanersen gets into the blood.\n\nThis study will be done as follows:\n\n* First, participants will be screened to check if they can join the study. The screening period may be up to 4 weeks.\n* This is an \"open-label\" study. This is a study in which the participants, study doctor, and site staff will know that participants are receiving salanersen.\n* All participants will receive salanersen through an intrathecal injection, or one that is given into the fluid surrounding the brain and spinal cord.\n* Participants will receive salanersen once every year for a total of 5 times throughout the study.\n* Including screening, participants will have 17 study visits and 9 telephone calls during this study, which will last up to 61 months in total.",[27],"2026-04-16",{"date":129,"type":43},"2026-04-21",{"date":131,"type":21},"2026-04-03",{"date":133,"type":21},"2032-06-22",{"name":135,"class":50},"Biogen",{"id":137,"slug":138,"hasResults":11,"nctId":139,"briefTitle":140,"officialTitle":141,"acronym":142,"eligibilityCriteria":143,"healthyVolunteers":11,"sex":16,"minAge":144,"maxAge":4,"enrollmentInfo":145,"targetDuration":4,"studyType":22,"phases":146,"briefSummary":148,"conditions":149,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":152,"lastUpdatePostDateStruct":153,"startDateStruct":154,"completionDateStruct":156,"leadSponsor":158,"locationsCount":160},"100505825","study-of-an-intrathecal-port-and-catheter-system-for-subjects-with-spinal-muscular-atrophy-100505825","NCT05866419","Study of an Intrathecal Port and Catheter System for Subjects With Spinal Muscular Atrophy","Safety and Performance of the ThecaFlex DRx™ System Port and Catheter for Chronic Intrathecal Access, Cerebrospinal Fluid (CSF) Aspiration, and DElivery of Nusinersen in Spinal Muscular Atrophy (SMA) Patients Resistant to Lumbar PunctuRE Trial (PIERRE)","PIERRE","Inclusion Criteria:\n\n1. Subject is 3 years or older\n2. Subject diagnosed with SMA who are candidates for Spinraza treatment as indicated in its label\n3. Subject resistant to lumbar puncture (LP), where resistance is defined as:\n\n   1. Subject with respiratory issues or other comorbidities who is at an increased risk for complications due to the need for repeat anesthesia and imaging radiation exposure to safely perform LP; or\n   2. Subjects for whom the treating physician determines implantation of the ThecaFlex DRx™ System is otherwise in the subject's best interest\n4. Subject has been prescribed nusinersen via chronic intrathecal bolus administration in accordance with the drug labeling and first port access of the ThecaFlex DRx system is planned within 2 weeks of implantation\n5. Subject, per Investigator discretion, is able to undergo a percutaneous or open surgical procedure for index port and catheter implantation where at least 7 cm of the ThecaFlex DRx system catheter will be placed intrathecally\n6. Subject (or subject's legally authorized representative) is willing and able to provide written informed consent; and\n7. Subject and parent\u002Fcaregiver able and willing to complete all clinical investigation procedures, measurements, and visits.\n\nExclusion Criteria:\n\n1. Subject meets any of the contraindications for use of the ThecaFlex DRx™ System as outlined in the ThecaFlex DRx™ System Instructions for Use\n2. Presence or history of (\\\u003C 6 months prior to the procedure): an implanted microinfusion pump, intrathecal catheter, or other intrathecal drug delivery devices\u002Fcomponent, or implanted shunt for drainage of cerebrospinal fluid (CSF), or reservoir in the CSF space (note: any ThecaFlex Port and Catheter System must not be placed in the same location as a previous indwelling port and catheter)\n3. Subject is pregnant or nursing or plans to become pregnant during the course of the clinical investigation\n4. Any condition or event, which in the opinion of the Investigator may adversely affect the safety and effective implantation and use of the ThecaFlex DRx™ system or confound the clinical investigation, including:\n\n   1. Severe structural impediment that may preclude safe implantation of the catheter and port\n   2. Major medical events within 60 days prior to screening; or\n   3. Relevant surgeries (e.g., head and neck, back, etc.) within 60 days prior to screening or planned during the duration of the clinical investigation\n   4. Space-occupying lesion with mass effect\n   5. Posterior fossa mass\n   6. Arnold-Chiari malformation\n   7. Coagulation abnormalities and\u002For thrombocytopenia\n   8. Insufficient or inadequate skin or underlying fat to adequately protect the port or enough surface area to allow the skin to close safely\n5. Subject is contraindicated for administration of nusinersen per its approved labeling\n6. History of intrathecal granuloma formation\n7. History of bacterial meningitis or aseptic meningitis within 6 months of screening\n8. History of tumors or other spinal abnormalities documented by magnetic resonance imaging (MRI) or computed tomography (CT) that would interfere with the catheter implantation procedures or CSF circulation\n9. History of hydrocephalus\n10. Diagnosed degenerative muscular disease other than SMA\n11. History of depression, cognitive impairment, or another psycho-behavioral problem that in the opinion of the Investigator may preclude safe participation in the clinical investigation and\n12. Serious medical condition that, in the opinion of the investigator, may lead to reduced life expectancy beyond 12 months.\n13. Subject is involved in another Investigation Device Exemption Study.","3 Years",{"count":122,"type":21},[147],"NA","The primary objective of the clinical investigation is to demonstrate successful clinical use of the ThecaFlex DRx™ System in delivering nusinersen in subjects with spinal muscular atrophy (SMA).\n\nAll enrolled subjects will undergo implantation of the investigational device (ThecaFlex DRx™ System) and will be followed for 12 months after receiving the implant. The 12-month data will be used to assess the primary endpoint support a Pre-Market Approval (PMA) application.",[27,150,151],"Spine Deformity","Scoliosis","2026-04-14",{"date":127,"type":43},{"date":155,"type":43},"2023-11-27",{"date":157,"type":21},"2030-07",{"name":159,"class":50},"Alcyone Therapeutics, Inc",21,{"id":162,"slug":163,"hasResults":11,"nctId":164,"briefTitle":165,"officialTitle":166,"acronym":4,"eligibilityCriteria":167,"healthyVolunteers":11,"sex":16,"minAge":168,"maxAge":4,"enrollmentInfo":169,"targetDuration":4,"studyType":22,"phases":171,"briefSummary":172,"conditions":173,"keywords":191,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":196,"lastUpdatePostDateStruct":197,"startDateStruct":199,"completionDateStruct":201,"leadSponsor":203,"locationsCount":82},"100629707","effects-of-whole-body-electrical-muscle-stimulation-exercise-on-adults-with-neuromuscular-disease-100629707","NCT07478172","Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease","Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults withNeuromuscular Disease","Inclusion Criteria:\n\n* Age 18 or older\n* Diagnosed with one or more of the following neuromuscular conditions: Amyotrophic lateral sclerosis, primary lateral sclerosis, progressive muscle atrophy, spinal muscular atrophy, postpolio syndrome, inclusion body myositis, pompedisease, fascioscapulohumeral muscular dystrophy, charcot marie tooth disease, chronic inflammatory demyelinating polyneuropathy, hereditary spastic paraplegia, myasthenia gravis, lambert-eaton myasthenic syndrome, postural orthostatic tachycardia syndrome, mitochondrial myopathy, nemaline myopathy, centronuclear myopathy, lumbar radiculopathy, non-specific low back pain.\n* Ability to stand for approximately 15 minutes continuously with or without an assistive device (i.e. the length of time to stand to take a shower, complete meal preparation, wait in line at the bank, etc.)\n* At least some anti-gravity strength in major muscle groups as assessed by manual muscle testing (i.e. 2+\u002F5 strength or better)\n* Medical clearance to participate in an exercise program\n* Ability to provide informed consent\n* Ability to conform to the requirements of the study (i.e. attendance at assessment and intervention visits, maintain current level of non-study physical activity for the duration of the study, no intention to relocate mid-study)\n\nExclusion Criteria:\n\n* Diagnosed with one of the following neuromuscular conditions: Becker's muscular dystrophy, Duchenne muscular dystrophy, limb-girdle muscular dystrophy, myotonic dystrophy type 1 or 2, Freidrich's ataxia, any other NMD with known or suspected cardiac involvement or muscle fiber structural integrity defects.\n* Concurrent participation in another interventional research study\n* Unable to tolerate 15 minutes of continuous standing with or without an assistive device\n* Presence of a pacemaker, metal implants, or other implanted medical devices that could impact participant safety during WB-EMS intervention\n* Presence of cochlear implant, cortical stimulator, deep brain stimulator, ventriculoperitoneal shunt, recent skull defect, seizure in the past 12 months while taking anti-epilepsy medication, or previous serious adverse event with TMS, which could impact participant safety during TMS testing\n* Presence of unstable acute or chronic disease (i.e. renal failure, rheumatologic disease, cardia arrhythmia, neoplasm, uncontrolled hypertension)\n* Known pregnancy at time of screening; verbal screening will occur throughout the study.\n* Presence of a terminal disease (i.e. receiving hospice services)\n* Current or previous use of any drugs known to influence muscle mass or performance within 6 months; these may include but are not limited to anabolic steroids, IGF01, growth hormone, replacement androgen therapy, anti-androgen therapy\n* Presence of an additional neurologic conditions affecting somatosensory or motor function\u002Fcontrol (i.e. Parkinson's disease, Multiple Sclerosis, h\u002Fo stroke, TBI, SCI, ataxia, apraxia, hemiplegia, etc.)\n* Musculoskeletal condition or surgery in the past year that would confound results of exercise interventions (i.e. TKA, THA, RTC repair, spinal fusion)\n* Other medical conditions, signs, or symptoms that would interfere with study conductor interpretation of results as determined by an investigator","18 Years",{"count":170,"type":21},50,[147],"This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD). Due to motor unit impairments, NMD patients often cannot tolerate traditional exercise. WB-EMS bypasses voluntary activation limits by directly stimulating muscle contractions. Up to 50 adults with conditions like ALS, SMA, and MG will undergo 20-minute supervised WB-EMS sessions (1-2 times weekly for 4-8 weeks) using the Katalyst system. Outcomes include neural excitability (TMS), motor unit behavior (EMG, NCS), functional tests (walk, balance, strength), and patient-reported fatigue, pain, and quality of life. Strict safety monitoring and exclusion criteria are in place. This study will provide preliminary data on WB-EMS as a potential exercise modality for NMD.",[174,175,176,177,178,27,179,180,181,182,183,184,185,186,187,188,189,190],"Neuromuscular Diseases (NMD)","Amyotrophic Lateral Sclerosis","Myasthenia Gravis","Lambert-eaton Myasthenic Syndrome","Primary Lateral Sclerosis","Charcot Marie Tooth Disease (CMT)","Fascioscapulohumeral Muscular Dystrophy","Inclusion Body Myositis","Mitochondrial Myopathy","Nemaline Myopathy","Centronuclear Myopathy","Postpolio Syndrome","Pompe Disease (Late-onset)","Chronic Inflammatory Demyelinating Polyneuropathy","Hereditary Spastic Paraplegia","Postural Orthostatic Tachycardia Syndrome (POTS)","Progressive Muscular Atrophy",[192,193,194,195],"Neuromuscular Disease","Electrical Stimulation","Whole Body stimulation","Exercise intervention","2026-03-12",{"date":198,"type":43},"2026-03-17",{"date":200,"type":43},"2026-03-10",{"date":202,"type":21},"2031-01-07",{"name":204,"class":81},"University of Missouri-Columbia",{"id":206,"slug":207,"hasResults":11,"nctId":208,"briefTitle":209,"officialTitle":209,"acronym":210,"eligibilityCriteria":211,"healthyVolunteers":11,"sex":16,"minAge":212,"maxAge":213,"enrollmentInfo":214,"targetDuration":4,"studyType":22,"phases":216,"briefSummary":217,"conditions":218,"keywords":219,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":225,"lastUpdatePostDateStruct":226,"startDateStruct":228,"completionDateStruct":230,"leadSponsor":232,"locationsCount":234},"100540832","characterization-of-new-phenotypes-of-patients-with-spinal-muscular-atrophy-treated-with-smn-restoring-therapy-100540832","NCT06321965","Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy","PHENO SMART","Inclusion Criteria:\n\n* Genetically confirmed infantile or juvenile spinal muscular atrophy\n* Treated with a therapy that restores SMN protein expression (e.g. nusinersen, risdiplam, onasemnogene abeparvovec)\n* Aged 0 to 15 years inclusive\n* Informed consent signed by both parent(s)\u002Flegal guardian(s) and patient's assent\n* Affiliated or beneficiary of a health insurance plan\\*. \\* for inclusion in France\n\nExclusion Criteria:\n\n* Other condition likely to interfere significantly with ASI assessment and clearly unrelated to the disease\n* Other associated neurological disease\n* Current pregnancy or breast-feeding (a pregnancy test will also be performed at inclusion).\n\nPlease note that patients with a specific contraindication to MRI (i.e. metallic foreign body, claustrophobia and other reasons determined by the investigators) will be allowed to participate in the study, but MRI will not be performed.","0 Years","16 Years",{"count":215,"type":21},60,[147],"With the advent of new treatments for ASI, new phenotypes are emerging. The investigators propose to describe these new phenotypes by prospectively following children with ASI of all types treated with TRS and aged under 16 for 2 years.\n\nThe investigators also propose to evaluate potential assessment tools to determine whether they are relevant for monitoring this population, either routinely or for future clinical trials. The investigators also aim to collect the total costs associated with ASI in order to propose a first prospective medico-economic study in France.",[27],[220,221,222,223,224],"Natural history","Spinal Muscular atrophy (SMA)","Risdiplam","Onasemnogene abeparvovec","Nusinersen","2026-01-28",{"date":227,"type":43},"2026-01-30",{"date":229,"type":43},"2024-07-24",{"date":231,"type":21},"2029-01-24",{"name":233,"class":81},"Hospices Civils de Lyon",8,{"id":236,"slug":237,"hasResults":11,"nctId":238,"briefTitle":239,"officialTitle":239,"acronym":240,"eligibilityCriteria":241,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":242,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":244,"conditions":245,"keywords":246,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":251,"lastUpdatePostDateStruct":252,"startDateStruct":254,"completionDateStruct":256,"leadSponsor":258,"locationsCount":82},"100610743","cuidame-longitudinal-data-collection-from-patients-with-spinal-muscular-atrophy-in-spain-100610743","NCT07231549","CuidAME: Longitudinal Data Collection From Patients With Spinal Muscular Atrophy in Spain","CUIDAME","Inclusion Criteria:\n\n* Genetically confirmed 5q SMA\n* Patient or caregivers written informed consent has been obtained (except for paediatric patients deceased).\n\nExclusion Criteria:\n\n* Further types of SMA (non-5q SMA).\n* Patient without legal capacity who cannot understand the nature, significance, and consequences of the project.",{"count":243,"type":21},1000,"The goal of this observational study is to set up a longitudinal data collection study to perform a long-term follow-up of SMA patients in a real-world setting, and to standardise and homogenize the data collection process for SMA patient's data.\n\nTreated and untreated patients will be followed based on the routine clinical practice schedule.",[27],[247,248,249,250],"registry","natural history","adult","pediatric","2025-11-14",{"date":253,"type":43},"2025-11-17",{"date":255,"type":43},"2020-05-05",{"date":257,"type":21},"2026-12",{"name":259,"class":81},"Fundació Sant Joan de Déu",{"id":261,"slug":262,"hasResults":11,"nctId":263,"briefTitle":264,"officialTitle":265,"acronym":4,"eligibilityCriteria":266,"healthyVolunteers":11,"sex":16,"minAge":267,"maxAge":268,"enrollmentInfo":269,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":271,"conditions":272,"keywords":273,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":281,"lastUpdatePostDateStruct":282,"startDateStruct":284,"completionDateStruct":286,"leadSponsor":288,"locationsCount":82},"100557004","exploring-the-physiologic-pharmacodynamic-and-clinical-responses-of-skeletal-muscle-in-patients-with-spinal-muscular-atrophy-treated-with-smn-directed-therapies-100557004","NCT06532474","Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies","Pilot Study Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies","Inclusion Criteria:\n\n* Genetic confirmation of SMA with homozygous deletion of SMN1 or compound heterozygous deletion\u002Fmutation of SMN1\n* Two, three, or four copies of SMN2\n* Age 5 to 20 years\n* Non-ambulatory participants: maximum function sitting or standing with support, never walked independently, still able to sit independently for 5 seconds at screening, with active ankle plantar flexion strength of at least 3 N with hand-held myometry and capable of performing repetitive maximal plantar flexion effort for 120 seconds. HFMSE score at screening between 10 and 45 points.\n* Ambulatory participants: minimum function of independent walking, able to walk unassisted a minimum of 100 meters at screening, ankle plantar flexion strength of at least 10 N with hand-held myometry and capable of performing repetitive maximal plantar flexion for 120 seconds. HFMSE score at screening between 40 and 60.\n* SMN-directed therapy inclusion:\n\n  * Current Evrysdi prescription\n\n    * Must have Evrysdi prescription through their treating physician but have not yet initiated treatment OR\n  * Current Spinraza or Zolgensma prescription\n\n    * For patients on Spinraza, must have been taking Spinraza for at least 12 months at screening (4 loading and 2 maintenance doses) and following the FDA-recommended dosing schedule\n    * For patients on Zolgensma, must have been dosed at least one year prior to screening\n    * Must have Spinraza or Zolgensma prescription through their treating physician OR\n  * Changing from Spinraza or Zolgensma to Evrysdi\n\n    * For patients on Spinraza, must have been taking Spinraza for at least 12 months at screening (4 loading and 2 maintenance doses) and following the FDA-recommended dosing schedule\n    * For patients on Zolgensma, must have been dosed at least one year prior to screening\n    * Must have voluntarily decided to switch therapies based on discussion with their treating physician\n    * Must have Evrysdi prescription through their treating physician but have not yet initiated treatment OR\n  * Have never received any SMN-directed therapies\n\nExclusion Criteria:\n\n* Labs at screening that are abnormal and identified as clinically significant by the PI: CBC, and CMP, liver function tests (over twice the upper limit of normal), PT\u002FPTT, urine protein of 2+ or greater.\n* Inability to perform reliably the motor function testing or the exercise testing in the MR scanner.\n* Treatment with a possible SMA-enhancing or mitochondrial-enhancing medication, unless discontinued within 3 months prior to screening: oral albuterol, hydroxyurea, phenylbutryate, valproic acid, creatine, l-carnitine, or other mitochondrial type supplement (riboflavin, lipoic acid, etc.). A daily multivitamin and Vitamin D supplement and intermittent inhaled albuterol are permitted if the dosage is unchanged during the study.\n* Need for routine non-invasive ventilation support.\n* Non-oral nutritional support, e.g., gastrostomy tube feeding.\n* Any ferrous metal implants (e.g., spinal rods) that preclude testing in a MR scanner.","5 Years","20 Years",{"count":270,"type":21},24,"In this observational study, researchers are looking at the effects of spinal muscular atrophy (SMA) drugs on the muscles and nerve cells in patients with SMA.\n\nPrimary Objectives\n\n* To evaluate the feasibility and reliability of performing MR functional imaging in exercising muscle in patients with SMA.\n* To evaluate patients with SMA types 2 and 3 at baseline and longitudinally at 6 and 12 months\n\nSecondary Objectives\n\n* To describe the MR functional bioenergetics response in the leg muscles in four potential groups of patients with spinal muscular atrophy: untreated, actively treated with nusinersen (Spinraza®) or onasemnogene abeparvovec (Zolgensma®), actively treated with risdiplam (Evrysdi®), and switching from Spinraza or Zolgensma to Evrysdi.\n* To identify changes in motor function in patients with SMA types 2 and 3 who initiate treatment with risdiplam.\n* To obtain biomarkers in blood, urine, and muscle tissue to provide proof-of-concept support for risdiplam effect on skeletal muscle.\n* To obtain quality of life and disability data from participants in this study.",[27],[274,275,276,277,278,279,280],"Spinal Muscular Atrophy (SMA)","SMA drugs","Responses of Skeletal Muscle","SMN-directed therapies","Eyrysdi","Spinraza","Zolgensma","2025-11-03",{"date":283,"type":43},"2025-11-04",{"date":285,"type":43},"2025-10-29",{"date":287,"type":21},"2027-03",{"name":289,"class":81},"St. Jude Children's Research Hospital",{"id":291,"slug":292,"hasResults":11,"nctId":293,"briefTitle":294,"officialTitle":295,"acronym":296,"eligibilityCriteria":297,"healthyVolunteers":11,"sex":16,"minAge":298,"maxAge":168,"enrollmentInfo":299,"targetDuration":4,"studyType":22,"phases":301,"briefSummary":302,"conditions":303,"keywords":304,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":309,"lastUpdatePostDateStruct":310,"startDateStruct":312,"completionDateStruct":314,"leadSponsor":316,"locationsCount":318},"100546544","a-registry-based-randomized-controlled-trial-of-an-upper-limb-exergaming-intervention-for-children-and-adolescents-with-spinal-muscular-atrophy-100546544","NCT06396325","A Registry Based Randomized-Controlled Trial of an Upper Limb Exergaming Intervention for Children and Adolescents With Spinal Muscular Atrophy","A Registry-Based Parallel Group Randomized-Controlled Trial of an Upper Limb Exergaming Intervention for Children and Adolescents With Spinal Muscular Atrophy, With an Optional Open-Label Extension","INFORM SMA","Inclusion Criteria:\n\n* Confirmed genetic diagnosis of 5q SMA\n* Age at screening: Aged 8-18 years old\n* Participant is able to stay seated independently without support for at least 10 seconds\n* Participants has a score of at least 2 points in entry item A of the RULM (i.e., \"Can raise 1 or 2 hands to the mouth but cannot raise a 200 g weight in it to the mouth\")\n* Treated with disease-modifying therapy\n* Signed ICF\n\nExclusion Criteria:\n\n* Inability to comply with study procedures according to the site investigator, prior to randomization\n* Severe scoliosis or contractures that would interfere with gameplay or with successful completion of functional assessments, as confirmed by the clinical evaluator\n* Planned orthopedic surgery 6 months prior to or throughout intervention and follow-up period (16 weeks post randomization)\n* Inability to read in English or French","8 Years",{"count":300,"type":21},22,[147],"This is a multisite randomized controlled registry-based trial to evaluate the efficacy of an 8-week home-based exergaming intervention as compared to usual care on occupational satisfaction of children and youth (8-18 years old age) with spinal muscular atrophy (SMA).",[27],[65,305,306,307,308],"rehabilitation","Exergaming","Pediatrics","Randomized-controlled trial","2025-07-03",{"date":311,"type":43},"2025-07-08",{"date":313,"type":43},"2024-11-01",{"date":315,"type":21},"2027-12-31",{"name":317,"class":81},"Maryam Oskoui, MD, MSc, FRCPC, FAAN",5,{"id":320,"slug":321,"hasResults":11,"nctId":322,"briefTitle":323,"officialTitle":324,"acronym":4,"eligibilityCriteria":325,"healthyVolunteers":11,"sex":16,"minAge":326,"maxAge":327,"enrollmentInfo":328,"targetDuration":4,"studyType":22,"phases":330,"briefSummary":332,"conditions":333,"keywords":334,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":336,"lastUpdatePostDateStruct":337,"startDateStruct":338,"completionDateStruct":340,"leadSponsor":341,"locationsCount":343},"100502585","phase-1-evaluation-of-safety-and-efficacy-of-gene-therapy-drug-in-the-treatment-of-spinal-muscular-atrophy-sma-type-1-patients-100502585","NCT05824169","Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients","A Multi-center, Open Label, Single-arm, Dose Ascending Clinical Trial for Evaluation of Safety and Efficacy of Gene Therapy Drug GC101 in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients","Inclusion Criteria:\n\n* Six months of age and younger on day of vector infusion with Type 1 SAM as defined by the following features:\n\n  * Diagnosis of SMA based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and 2 copies of SMN2;\n  * Onset of disease before 6 months of age\n* The patient's legal guardian(s) must be able to understand the purpose and risks of the study and voluntarily provide signed and dated informed consent prior to any study-related procedures being performed.\n\nExclusion Criteria:\n\n* Patient who has participated in a previous gene therapy research trials;\n* Patient who has received Nusinersen and Risdiplam treatment;\n* Patient who has AAV9 neutralizing antibody titer ≥1:200;\n* Patient who requires non-invasive ventilatory support averaging≥16 hours\u002Fday;\n* Patient with a point mutation in SMN2 (c.859G\\>C);\n* Patient who requires non-invasive ventilatory support averaging≥16 hours\u002Fday at screening;\n* Patient who use invasive ventilatory support or pulse oximetry \\\u003C 95% saturation while awake and calm at screening;\n* Patient who is positive for human immunodeficiency virus (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;\n* Abnormal laboratory values considered clinically significant, including gamma-glutamyl transferase(GGT), Aspartate aminotransferase (AST), alanine aminotransferase (ALT), bilirubin \\> 3x upper limit of normal (ULN), Hemoglobin (Hgb)\\\u003C 110 or \\>150 g\u002FL, platelet \\\u003C183x10\\^9\u002FL or 614x10\\^9\u002FL;\n* Class IV patient based on Modified Ross Heart Failure Classification for Children;\n* Patient with a history of glucocorticoid allergy;\n* Contraindication that would interfere with the lumbar puncture procedures;\n* Presence of an untreated active infection requiring systemic antiviral therapy at any time during the screening period;\n* Vaccination less than 2 weeks before infusion of vector;\n* Patient who has any concurrent clinically significant major disease or any other condition that, in the opinion of the Investigator, makes the subject unsuitable for participation in the study.\n\nNote: Other protocol defined inclusion\u002Fexclusion criteria may apply.","0 Months","6 Months",{"count":329,"type":21},18,[331,94],"PHASE1","The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 1 (SMA 1) patients.",[27],[335],"Type 1","2025-07-01",{"date":309,"type":43},{"date":339,"type":43},"2023-02-25",{"date":257,"type":21},{"name":342,"class":50},"GeneCradle Inc",4,{"id":345,"slug":346,"hasResults":11,"nctId":347,"briefTitle":348,"officialTitle":348,"acronym":30,"eligibilityCriteria":349,"healthyVolunteers":11,"sex":16,"minAge":350,"maxAge":4,"enrollmentInfo":351,"targetDuration":352,"studyType":61,"phases":4,"briefSummary":353,"conditions":354,"keywords":355,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":356,"lastUpdatePostDateStruct":357,"startDateStruct":359,"completionDateStruct":361,"leadSponsor":363,"locationsCount":82},"100376101","french-register-of-patients-with-spinal-muscular-atrophy-100376101","NCT04177134","French Register of Patients With Spinal Muscular Atrophy","Inclusion Criteria:\n\n* Genetically confirmed SMA 5q patients through 1 to 4 types treated in reference centers in France between September 1, 2016 and August 31, 2024.\n* for prospective study: inform consent form signed by patient.\n* for retrospective data: information form with non-opposition have been given to participant.\n* Covered by a health insurance.\n\nExclusion Criteria:\n\n* Other type of SMA (not 5q).\n* Under guardianship or curatorship.\n* Unable to understand french language.","0 Days",{"count":243,"type":21},"9 Years","The primary objectives of the study are to obtain clinically meaningful data on survival and outcomes of all the patients with spinal muscular atrophy (SMA) 5q types 1 through 4 (according to international classification), being followed in the reference centers of the disease in France between September 1, 2016 and August 31, 2024. The registry will collect retrospectively and prospectively the longitudinal data of the long-term follow-up for child and adult patients, under real life conditions of current medical practice, in order to document the clinical evolution of patients (survival, motor, respiratory, orthopedic and nutritional), the conditions of use of the treatments, the mortality rates of treated and untreated patients, the tolerance of the treatments, adverse events in order to better define their places in the therapeutic strategy.",[27],[65],"2025-04-04",{"date":358,"type":43},"2025-04-06",{"date":360,"type":43},"2020-01-31",{"date":362,"type":21},"2029-01-31",{"name":364,"class":81},"Assistance Publique - Hôpitaux de Paris",{"id":366,"slug":367,"hasResults":11,"nctId":368,"briefTitle":369,"officialTitle":370,"acronym":4,"eligibilityCriteria":371,"healthyVolunteers":372,"sex":16,"minAge":267,"maxAge":119,"enrollmentInfo":373,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":375,"conditions":376,"keywords":382,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":386,"lastUpdatePostDateStruct":387,"startDateStruct":389,"completionDateStruct":391,"leadSponsor":393,"locationsCount":82},"100574234","respiratory-functions-thoracoabdominal-movements-and-exercise-capacity-in-neuromuscular-diseases-100574234","NCT06756633","Respiratory Functions, Thoracoabdominal Movements and Exercise Capacity in Neuromuscular Diseases","Evaluation of Respiratory Functions, Thoracoabdominal Movements, and Exercise Capacity in Neuromuscular Diseases","1. Duchenne Muscular Dystrophy (DMD)\n\n   -Inclusion Criteria: Clinically diagnosed with Duchenne Muscular Dystrophy. Age above 5 years. Able to breathe independently. Willing to participate in the study.\n\n   -Exclusion Criteria: Presence of cognitive problems that affect the assessment results. History of pulmonary surgery. Advanced heart failure.\n2. Spinal Muscular Atrophy (SMA)\n\n   -Inclusion Criteria: Clinically diagnosed with Spinal Muscular Atrophy. Age above 5 years. Able to breathe independently. Willing to participate in the study.\n\n   -Exclusion Criteria: Presence of cognitive problems that affect the assessment results. History of pulmonary surgery. Advanced heart failure.\n3. Healthy Controls\n\n   * Inclusion Criteria:\n\nNo diagnosis of neuromuscular diseases. Age above 5 years. Able to breathe independently. Willing to participate in the study.\n\n-Exclusion Criteria: Presence of cognitive problems that affect the assessment results. History of pulmonary surgery. Advanced heart failure.",true,{"count":374,"type":21},42,"The clinical trial titled \"Investigation of Respiratory Functions, Thoracoabdominal Movements, and Exercise Capacity in Neuromuscular Diseases\" aims to evaluate the respiratory functions, thoracoabdominal movements, and exercise capacity in children with Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) compared to healthy controls. The study will use spirometry, structured light plethysmography (SLP), the six-minute walk test, and the six-minute pegboard ring test to assess these functions. This trial will be conducted at the Lokman Hekim University Muscle and Nerve Diseases Application and Research Center from May 2024 to Dec 2025.",[377,378,379,380,27,381],"Neuromuscular Diseases in Children","Respiratory Function Impaired","Respiratory Insufficiency","Duchenne Muscular Dystrophy","Plethysmography",[383,29,384,385],"Duchenne muscular dystrophy","respiratory function tests","plethysmography","2024-12-25",{"date":388,"type":43},"2025-01-03",{"date":390,"type":43},"2024-04-01",{"date":392,"type":21},"2025-12-28",{"name":394,"class":395},"Lokman Hekim University","OTHER_GOV",{"id":397,"slug":398,"hasResults":11,"nctId":399,"briefTitle":400,"officialTitle":401,"acronym":402,"eligibilityCriteria":403,"healthyVolunteers":11,"sex":16,"minAge":404,"maxAge":405,"enrollmentInfo":406,"targetDuration":4,"studyType":22,"phases":408,"briefSummary":409,"conditions":410,"keywords":411,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":421,"lastUpdatePostDateStruct":422,"startDateStruct":424,"completionDateStruct":426,"leadSponsor":428,"locationsCount":82},"100465494","hippotherapy-in-children-with-spinal-muscular-atrophy-100465494","NCT05341453","Hippotherapy in Children With Spinal Muscular Atrophy","The Effect of Intensive Hippotherapy on the Psychomotoric Development of Children With Spinal Muscular Atrophy","HIPOSMA","Inclusion Criteria:\n\n* clinic diagnosis SMA (I, II, and III types)\n* no changing medicine 6 months at least\n* without another grave diseases\n\nExclusion Criteria:\n\n* hip subluxation\n* allergies to horses and the environment of horse stables\n* insurmountable fear of the horse","1 Year","10 Years",{"count":407,"type":21},16,[147],"The randomized controlled trial is aimed to discover the physiotherapy and hippotherapy effect and efficacy on children with SMA. The concept is to utilized two types of physiotherapy - the first concept is classic physiotherapy and the second one is hippotherapy. The hippotherapy concept will be in intervals of 15 minutes twice a day, the physiotherapy will be in intervals of 30 minutes once a day. In-patient therapy will be for 6 days. The efficacy will be assessed by biomedical measures - Qualisys Motion Capture Systems 2020.3., by molecular biological markers (lncRNA) in blood and by surface electromyography (EMG). The primary goal of this study is to compare two physiotherapeutic approaches - the recommended form of classical physiotherapy and the method on a neurophysiological basis - hippotherapy. The secondary intention of the research will be the appropriate intensity of therapy so that unwanted muscle fatigue does not occur.",[27],[412,413,414,415,416,417,418,419,420],"hippotherapy","children","psychomotor development","physiotherapy","quality of life","posture","motor skills","therapeutic riding","muscle fatigue","2024-08-19",{"date":423,"type":43},"2024-08-20",{"date":425,"type":43},"2022-04-22",{"date":427,"type":21},"2025-10-22",{"name":429,"class":81},"Charles University, Czech Republic",{"id":431,"slug":432,"hasResults":11,"nctId":433,"briefTitle":434,"officialTitle":435,"acronym":4,"eligibilityCriteria":436,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":437,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":439,"conditions":440,"keywords":441,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":453,"lastUpdatePostDateStruct":454,"startDateStruct":456,"completionDateStruct":458,"leadSponsor":460,"locationsCount":82},"100384966","uk-sma-patient-registry-100384966","NCT04292574","UK SMA Patient Registry","Spinal Muscular Atrophy Patient Registry of the United Kingdom and Ireland","Inclusion Criteria:\n\n* All patients with a confirmed SMA diagnosis (or pending diagnosis) are eligible for inclusion. Diagnosis will be confirmed via genetic testing results\n\nExclusion Criteria:\n\n* There are no exclusion criteria for the registry",{"count":438,"type":21},800,"Spinal muscular atrophy (SMA) is a form of motor neuron disease, most commonly caused by a mutation in the survival motor neuron 1 gene (SMN1) which results in a wide disease spectrum affecting children and adults. It is an autosomal recessive disorder and is therefore caused by inheritance of a mutated gene from each parent. All forms of SMA have an estimated combined incidence of 1 in 6,000 to 1 in 10,000 live births, with a carrier frequency of 1\u002F40 to 1\u002F60.\n\nThe patient registry aims to facilitate a questionnaire-based research study in order to better characterise and understand the disease in the UK and in Ireland. Entry is via self-registration over a secure internet connection (https:\u002F\u002Fwww.sma-registry.org.uk\u002F). Online, patients are asked to read an information sheet about the research project and then indicate their consent to demonstrate willingness to participate. Following online consent, subjects will be entered into the registry. This is an on-going database and all participants are invited to update their information on a biannual basis.",[27,30],[27,30,442,443,444,445,446,447,448,449,450,451,452],"Neuromuscular Diseases","Motor Neuron Disease","Bulbo-Spinal Atrophy, X-Linked","Kennedy Disease","Spinal Muscular Atrophy with Respiratory Distress 1","Distal Spinal Muscular Atrophy","SMA type 1","SMA type 2","SMA type 3","SMA type 4","5q SMA","2024-07-22",{"date":455,"type":43},"2024-07-23",{"date":457,"type":43},"2008-07-13",{"date":459,"type":21},"2025-05-31",{"name":461,"class":81},"Newcastle University",{"id":463,"slug":464,"hasResults":11,"nctId":465,"briefTitle":466,"officialTitle":467,"acronym":30,"eligibilityCriteria":468,"healthyVolunteers":372,"sex":16,"minAge":469,"maxAge":470,"enrollmentInfo":471,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":473,"conditions":474,"keywords":475,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":477,"lastUpdatePostDateStruct":478,"startDateStruct":480,"completionDateStruct":482,"leadSponsor":484,"locationsCount":82},"100302472","neonatal-spinal-muscular-atrophy-sma-screening-100302472","NCT03217578","Neonatal Spinal Muscular Atrophy (SMA) Screening","Study on the Neonatal Screening of Spinal Muscular Atrophy","Inclusion Criteria:\n\n1. Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare.\n2. Parents or legal guardian agree to perform SMA newborn screening.\n\nExclusion Criteria:\n\nParents or legal guardian do not agree to perform SMA newborn screening.","0 Weeks","2 Weeks",{"count":472,"type":21},250000,"Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.",[27],[27,476],"Newborn Screening","2024-02-14",{"date":479,"type":43},"2024-02-16",{"date":481,"type":43},"2017-09-01",{"date":483,"type":21},"2030-12-31",{"name":485,"class":81},"Kaohsiung Medical University Chung-Ho Memorial Hospital",{"id":487,"slug":488,"hasResults":11,"nctId":489,"briefTitle":490,"officialTitle":491,"acronym":4,"eligibilityCriteria":492,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":493,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":495,"conditions":496,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":497,"lastUpdatePostDateStruct":498,"startDateStruct":500,"completionDateStruct":502,"leadSponsor":504,"locationsCount":318},"100498268","long-term-trajectories-of-sma-patients-receiving-or-not-disease-modifying-treatments-100498268","NCT05768048","Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments","SMA Natural History Study Evaluating Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments","Inclusion Criteria:\n\nall patients with mutationsin the SMAN1 gene\n\nExclusion Criteria:\n\nunable to proviude consent",{"count":494,"type":21},500,"This is an observational multicenter retrospective and prospective study on natural history of SMA also considering the 'new natural history' secondary to the availability of commercially available therapies.\n\nAll the patients enrolled to date in the Italian registry, if not part of clinical trials, will be included in the present study.",[27],"2023-03-02",{"date":499,"type":43},"2023-03-14",{"date":501,"type":43},"2022-11-28",{"date":503,"type":21},"2027-11-27",{"name":505,"class":81},"Fondazione Policlinico Universitario Agostino Gemelli IRCCS",{"id":507,"slug":508,"hasResults":11,"nctId":509,"briefTitle":510,"officialTitle":510,"acronym":511,"eligibilityCriteria":512,"healthyVolunteers":372,"sex":16,"minAge":168,"maxAge":4,"enrollmentInfo":513,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":515,"conditions":516,"keywords":519,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":526,"lastUpdatePostDateStruct":527,"startDateStruct":529,"completionDateStruct":531,"leadSponsor":533,"locationsCount":82},"100490198","impairments-of-neuro-muscular-communication-in-motor-neuron-disease-a-bio-marker-for-early-and-personalised-diagnosis-100490198","NCT05663008","Impairments of Neuro-muscular Communication in Motor-Neuron Disease: A Bio-Marker for Early and Personalised Diagnosis","MotorMarker","Inclusion Criteria:\n\nHealthy Volunteers:\n\n* age and gender-matched to patient groups\n* the intact physical ability to take part in the experiment.\n\nPatients:\n\n* Diagnosis of ALS, PLS, PMA, SMA, Polio or MS\n* capable of providing informed consent.\n\nExclusion Criteria:\n\nHealthy Controls:\n\n* History of neuromuscular\n* neurological or active psychiatric disease disease\n* history of reaction or allergy to recording environments, equipment and the recording gels.\n\nPatients:\n\n* the presence of active psychiatric disease\n* any medical condition associated with severe neuropathy (e.g. poorly controlled diabetes).\n* History of reaction or allergy to recording environments, equipment and the recording gels.",{"count":514,"type":21},400,"Motor neuron disease (MND) or ALS is a nervous system disease. ALS leads to a loss of movement ability that eventually leads to death. At the moment, there is no known treatment for ALS. Early diagnosis in individuals improves clinical care and facilitates timely entry into clinical trials. However, current methods for diagnosis are primarily clinical, and to date, no cost-effective biomarkers have been developed. Our objective is to identify a robust non-invasive neurophysiological-based system that can be used both as a biomarker of disease onset, and a measurement of progression using quantitative EEG and surface EMG (bipolar and high-density).\n\nThe investigators postulate that analysing the joint recordings of EEG and EMG (bipolar or high-density) can give measures that better distinguish healthy people and ALS patient subgroups and that the findings can be developed as biomarkers of early diagnosis and disease progression.",[517,518,27],"ALS (Amyotrophic Lateral Sclerosis)","Postpoliomyelitis Syndrome",[520,521,522,523,524,525],"EEG","Corticomuscular coherence","Biomarkers","Electrophysiology","Neuromuscular disease","EMG","2022-12-21",{"date":528,"type":43},"2022-12-23",{"date":530,"type":43},"2015-10-01",{"date":532,"type":21},"2027-09-30",{"name":534,"class":81},"University of Dublin, Trinity College",{"id":536,"slug":537,"hasResults":11,"nctId":538,"briefTitle":539,"officialTitle":540,"acronym":4,"eligibilityCriteria":541,"healthyVolunteers":372,"sex":16,"minAge":542,"maxAge":543,"enrollmentInfo":544,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":546,"conditions":547,"keywords":4,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":548,"lastUpdatePostDateStruct":549,"startDateStruct":551,"completionDateStruct":553,"leadSponsor":555,"locationsCount":82},"100363314","a-registered-cohort-study-on-sma-100363314","NCT04010604","A Registered Cohort Study on SMA","A Registered Cohort Study on Spinal Muscular Atrophy","Inclusion Criteria:\n\n* Patients with SMA types I, II and III\n* Asymptomatic SMA carriers\n* Relatives of SMA patients or carriers\n* Unrelated healthy controls\n* Participants or Parent(s)\u002Flegal guardian(s) willing and able to complete the informed consent process\n\nExclusion Criteria:\n\n\\* Participants are unable to comply with trial procedures and visit schedule","1 Week","70 Years",{"count":545,"type":21},2000,"Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord. This is a registered cohort of spinal muscular atrophy (SMA) type I，II and III in China. This study will provide further insights into the clinical course of SMA including overall survival, demographic characteristics, motor function, respiratory support, feeding and nutritional support, growth and development. The correlation of genotype and phenotype will be conducted.",[27],"2019-09-19",{"date":550,"type":43},"2019-09-23",{"date":552,"type":43},"2019-07-01",{"date":554,"type":21},"2049-12-31",{"name":556,"class":81},"Wan-Jin Chen"]