[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100557004":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":21,"centralContacts":25,"locations":31,"responsibleParty":48,"collaborators":50,"id":54,"slug":55,"hasResults":56,"nctId":57,"briefTitle":58,"officialTitle":59,"acronym":10,"eligibilityCriteria":60,"healthyVolunteers":56,"sex":61,"minAge":62,"maxAge":63,"enrollmentInfo":64,"targetDuration":10,"studyType":67,"phases":10,"briefSummary":68,"conditions":69,"keywords":71,"overallStatus":33,"whyStopped":10,"lastUpdateSubmitDate":79,"lastUpdatePostDateStruct":80,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":88},{"fullName":5,"class":6},"St. Jude Children's Research Hospital","OTHER",[8,12,15,18],{"label":9,"type":10,"description":11,"interventionNames":10},"Cohort 1",null,"Current Evrysdi prescription",{"label":13,"type":10,"description":14,"interventionNames":10},"Cohort 2","Current Spinraza or Zolgensma prescription",{"label":16,"type":10,"description":17,"interventionNames":10},"Cohort 3","Changing from Spinraza or Zolgensma to Evrysdi",{"label":19,"type":10,"description":20,"interventionNames":10},"Cohort 4","Have never received any SMN-directed therapies",[22],{"name":23,"affiliation":5,"role":24},"Richard Finkel, MD","PRINCIPAL_INVESTIGATOR",[26],{"name":27,"role":28,"phone":29,"phoneExt":10,"email":30},"Jean Laboe, RN","CONTACT","901-595-1693","referralinfo@stjude.org",[32],{"facility":5,"status":33,"city":34,"state":35,"zip":36,"country":37,"countryCode":38,"cosmosGeoPoint":39,"geoPoint":44,"contacts":45},"RECRUITING","Memphis","Tennessee","38105","United States","US",{"type":40,"coordinates":41},"Point",[42,43],-90.04898,35.14953,{"lat":43,"lon":42},[46,47],{"name":27,"role":28,"phone":29,"phoneExt":10,"email":30},{"name":23,"role":24,"phone":10,"phoneExt":10,"email":10},{"type":49,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[51],{"name":52,"class":53},"Genentech, Inc.","INDUSTRY","100557004","exploring-the-physiologic-pharmacodynamic-and-clinical-responses-of-skeletal-muscle-in-patients-with-spinal-muscular-atrophy-treated-with-smn-directed-therapies-100557004",false,"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.","ALL","5 Years","20 Years",{"count":65,"type":66},24,"ESTIMATED","OBSERVATIONAL","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.",[70],"Spinal Muscular Atrophy",[72,73,74,75,76,77,78],"Spinal Muscular Atrophy (SMA)","SMA drugs","Responses of Skeletal Muscle","SMN-directed therapies","Eyrysdi","Spinraza","Zolgensma","2025-11-03",{"date":81,"type":82},"2025-11-04","ACTUAL",{"date":84,"type":82},"2025-10-29",{"date":86,"type":66},"2027-03",{"name":5,"class":6},1]