[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"sma---spinal-muscular-atrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:sma---spinal-muscular-atrophy":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,44,73],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":26,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":43},"100633764","adrenal-bone-complications-in-paediatric-patients-living-with-spinal-muscular-atrophy-sma-100633764",false,"NCT07530926","Adrenal& Bone Complications in Paediatric Patients Living With Spinal Muscular Atrophy (SMA)","Adrenal& Bone Complications in Paediatric Patients Living With Spinal Muscular Atrophy","SMA-ABC","Inclusion Criteria:\n\n* Participants who have been consented by 1 May 2025 and included on the paediatric SMA REACH UK database who are younger than 16 years.\n* Participants included on the paediatric SMA REACH UK database who are over the age of 16 years on 1 May 2025 who have been reconsented by SMA REACH UK after the age of 16 years.\n\nExclusion Criteria:\n\n• If participants included on the paediatric SMA REACH UK database who are over the age of 16 years on 1 May 2025 have not been reconsented after turning 16 years old, retrospective data from after the age of 16 years will not be included.","ALL","0 Years",{"count":20,"type":21},550,"ESTIMATED","OBSERVATIONAL","Spinal muscular atrophy (SMA) is a genetic disorder that is known to cause damage to specialised nerve cells, called motor neurons. These neurons are located in the spinal cord and transfer signals from the brain to muscles to allow movement. A lack of nerve signalling leads to progressive muscle weakness and wasting, which affects a person' mobility, breathing and swallowing. Treatments have only recently been developed and there are now three commercially available drugs for SMA. These drugs improve survival and mobility of patients with SMA. Patients are surviving longer but other problems apart from muscle weakness have been found in patients with SMA that may be related to SMA. One of the additional problems in SMA investigators have noted is poor bone health. Investigators observed low impact fractures, vertebral fractures, and reduce bone density from a very early age in our cohort.\n\nInvestigators however do not know if this is related to reduced mobility and subsequent loss of muscle loading of bone in SMA or if this is a direct effect of reduced Survival Motor Neuron (SMN) protein. The natural history of bone health in SMA patients is not well described. Investigators also do not know if the drugs used to treat SMA improves bone health. The additional need of high dose steroids in patients receiving onasemnogene abeparvovec (OA) may also reduce bone health in those receiving this therapy. There are also no licensed treatments for the management of fragile bones (osteoporosis) in children or guidelines or consensus on management of osteoporosis or fractures in SMA.\n\nInvestigators want to study the bone health in paediatric patients with SMA in UK by looking at the incidence and type of fractures and comparing this in the different drug therapy groups against those who do not receive a SMA drug, assess impact of duration of steroid use and bone health in those that received onasemnogene aberparvovec, and to determine what needs to be measured and recorded to assess bone health most effectively in SMA. To do this investigators will be utilising data collected nationally through the SMA REACH UK network already and study medical records on data that is felt important but not collected by the SMA REACH UK database. Investigators are only planning to review existing information - no additional tests will be performed.",[25],"SMA - Spinal Muscular Atrophy",[27,28,29,30],"Bone mineral density","Spinal muscular atrophy","Vertebral fracture assessment","Dual-energy X-ray absorptiometry","NOT_YET_RECRUITING","2026-04-23",{"date":34,"type":35},"2026-04-24","ACTUAL",{"date":37,"type":21},"2026-05-01",{"date":39,"type":21},"2027-06-01",{"name":41,"class":42},"Sheffield Children's NHS Foundation Trust","OTHER",1,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":50,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":52,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":54,"conditions":55,"keywords":4,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":69,"leadSponsor":71,"locationsCount":43},"100628864","invasive-home-ventilation-in-denmark-100628864","NCT07467187","Invasive Home Ventilation in Denmark","The Evolution of Invasive Home Mechanical Ventilation in Denmark","HOMEVENT DK","Inclusion Criteria:\n\n* Patients are included if they have or have had a respiratory certified personale care assistent during the period 2016-2025.\n\nExclusion Criteria:\n\n* Not tracheostomized\n* Tracheostomized but on spontaneous breathing throughout 1 January 2016 - 31 December 2025\n* Not discharged to home, assisted living, nursing home, or rehabilitation during 1 January 2016 - 31 December 2025",{"count":53,"type":21},450,"The aim of this study is to describe national trends over the past 10 years in patients receiving invasive home mechanical ventilation (HMV) in Denmark. This includes indications for invasive HMV, diagnostic groups, and one-year mortality.",[56,57,58,59,25,60,61,62],"Neuromuscular Diseases (NMD)","ALS (Amyotrophic Lateral Sclerosis)","Spinal Cord Injuries (SCI)","Duchenne Muscular Dystrophy (DMD)","MSA - Multiple System Atrophy","Tracheostomized Patients","Tracheostomy","RECRUITING","2026-04-15",{"date":66,"type":35},"2026-04-20",{"date":68,"type":35},"2026-04-13",{"date":70,"type":21},"2028-09-01",{"name":72,"class":42},"Rigshospitalet, Denmark",{"id":74,"slug":75,"hasResults":11,"nctId":76,"briefTitle":77,"officialTitle":78,"acronym":4,"eligibilityCriteria":79,"healthyVolunteers":11,"sex":17,"minAge":80,"maxAge":81,"enrollmentInfo":82,"targetDuration":4,"studyType":84,"phases":85,"briefSummary":87,"conditions":88,"keywords":89,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":92,"lastUpdatePostDateStruct":93,"startDateStruct":95,"completionDateStruct":97,"leadSponsor":99,"locationsCount":102},"100590720","phase-3-safety-and-efficacy-evaluation-of-gc101-gene-therapy-via-intrathecal-it-injectionin-the-treatment-of-patients-with-type-2-spinal-muscular-atrophy-sma---phase-iii-100590720","NCT06971094","Safety and Efficacy Evaluation of GC101 Gene Therapy Via Intrathecal (IT) Injectionin the Treatment of Patients With Type 2 Spinal Muscular Atrophy (SMA) - Phase III","A Multicenter, Randomized, Open-Label, Standard-of-Care-Controlled, Phase III Clinical Trial to Evaluate the Safety and Efficacy of Intrathecal (IT) Injection of GC101 Adeno-Associated Virus Injection in the Treatment of Patients With Type 2 Spinal Muscular Atrophy (SMA)","Inclusion Criteria:\n\n* Patients with a confirmed diagnosis of Type 2 5q-SMA through clinical phenotype and genetic testing.\n* Patients who have been receiving regular treatment with nusinersen for more than one year prior to screening.\n* Patients who have not received treatment with risdiplam within 2 months prior to screening and have no plans to receive risdiplam treatment within 12 months after enrollment.\n* Patients who can sit independently but cannot walk independently at the time of screening (according to the definitions of independent sitting and walking in the WHO-MGRS motor milestones scale), and have an HFMSE score of ≥10 points.\n* Patients and\u002For their legal guardians are able to understand and are willing to comply with the requirements and procedures of the trial protocol, and voluntarily participate and sign the informed consent form\n\nExclusion Criteria:\n\n* Patients with serum anti-AAV9 neutralizing antibody titers \\> 1:50 at the time of screening.\n* Patients who have received nusinersen treatment within 2 months prior to enrollment.\n* Patients with any medical conditions that may affect the interpretation of study results or pose a risk to the safety of the participants, including but not limited to organ dysfunction of any cause, acute infectious diseases, primary\u002Facquired immunodeficiency diseases, severe cardiovascular\u002Fcerebrovascular diseases, gastrointestinal diseases, diabetes, known epilepsy, meningitis, seizure or convulsion history, or a family history of psychiatric disorders; and those with cerebrospinal fluid circulation disorders.\n* Patients with severe liver injury\u002Fhepatic insufficiency of any cause, including but not limited to alanine aminotransferase (ALT), aspartate aminotransferase (AST) ≥3 times the upper limit of normal (ULN); total bilirubin (TBil) ≥1.5 times the ULN.\n* Patients deemed by the investigator to have contraindications to glucocorticoid use, such as severe hypertension, diabetes, systemic infectious diseases, fungal infections, glaucoma, osteoporosis, peptic ulcer disease, tuberculosis, etc.\n* Patients with contraindications to lumbar puncture or intrathecal injection therapy.\n* Patients with any medical conditions that may affect the assessment of motor function, such as severe scoliosis, severe joint contracture deformities, planned spinal correction surgery during the trial period, severe osteoporosis, or a history of fractures.\n* Patients positive for hepatitis B surface antigen (HBsAg), human immunodeficiency virus (HIV) antibodies, hepatitis C virus (HCV) antibodies, or syphilis antibodies.\n* Patients who have received vaccinations within 2 weeks prior to dosing.\n* Patients who have previously received gene therapy or participated in any clinical trial within 3 months prior to screening.\n* Patients deemed by the investigator to be unsuitable for participation in this study.","2 Years","12 Years",{"count":83,"type":21},50,"INTERVENTIONAL",[86],"PHASE3","This trial employs a multicenter, randomized, open-label, standard-of-care-controlled design and plans to enroll 50 patients with Type 2 SMA aged 2 to 12 years who have previously received nusinersen. The primary objective of the trial is to evaluate the efficacy of GC101 in treating Type 2 SMA. The secondary objectives are to assess the efficacy, safety, and pharmacokinetic (PK) profile of GC101 in treating Type 2 SMA.",[25],[90,91],"SMA, type II, AAV gene therapy","Genecradle","2025-06-04",{"date":94,"type":35},"2025-06-05",{"date":96,"type":35},"2025-05-27",{"date":98,"type":21},"2026-12-31",{"name":100,"class":101},"GeneCradle Inc","INDUSTRY",7]