[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"infantile-spinal-muscular-atrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:infantile-spinal-muscular-atrophy":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,47],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":29,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100559296","evaluation-of-the-reproducibility-of-a-fatigability-test-fitted-to-patients-with-spinal-muscular-atrophy-100559296",false,"NCT06562283","Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy","FANTASI-SMART","Inclusion Criteria:\n\n* Genetically confirmed spinal muscular atrophy\n* Age ≥ 6 years\n* No orthopaedic surgery in the 6 months prior to inclusion\n* Informed consent signed by the patient(s) or parent(s)\u002Flegal guardian(s) and assent of the patient\n* Affiliated or beneficiary of a health insurance scheme (for inclusion in France)\n\nExclusion Criteria:\n\n* Other condition that may significantly interfere with the assessment of the SMA and which is clearly unrelated to the disease\n* Other associated neurological disease\n* Joint deformities that prevent correct and comfortable positioning with the various different measuring devices (thumb-index clamp, handgrip and QIF-test)\n* Contraindication to transcranial magnetic stimulation","ALL","6 Years",{"count":19,"type":20},80,"ESTIMATED","INTERVENTIONAL",[23],"NA","Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the degeneration of motor neurons in the anterior horn of the spinal cord, due to the absence of the SMN1 gene and the resulting lack of SMN protein. Some patients with particularly severe forms (types 0 or 1) die before the age of 2 in the absence of treatment, while others retain autonomous walking throughout their lives, with no reduction in life expectancy. Three treatments aimed at restoring SMN (TRS) protein expression have recently been approved by the US Food and Drug Administration and the European Medicines Agency (i.e. Nusinersen \u002F Onasemnogene Abeparvovec \u002F Risdiplam). Patients treated with TRS after the onset of symptoms (symptomatic patients) may show significant motor improvement, but retain difficulties such as muscle weakness and fatigue leading to limitations in activities of daily living. The aim of this study is to adapt a fatigability test, widely validated in its original version in different populations (QIF test), but adapted in this protocol to the motor level and low abilities of certain SMA patients. Our objectives are to determine whether these assessments are feasible in SMA patients, reproducible, and relevant for monitoring this population, either routinely or for future clinical trials.",[26,27,28],"Spinal Amyotrophy","Infantile Spinal Muscular Atrophy","Juvenile Spinal Muscular Atrophy",[30,31,32,33],"Spinal Muscle Atrophy","Neuromuscular performance","Fatigue","Peripheral fatigue","RECRUITING","2026-05-05",{"date":37,"type":38},"2026-05-06","ACTUAL",{"date":40,"type":38},"2024-12-06",{"date":42,"type":20},"2026-10",{"name":44,"class":45},"Centre Hospitalier Universitaire de Saint Etienne","OTHER",4,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":52,"acronym":53,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":21,"phases":58,"briefSummary":59,"conditions":60,"keywords":61,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":69,"lastUpdatePostDateStruct":70,"startDateStruct":72,"completionDateStruct":74,"leadSponsor":76,"locationsCount":78},"100527787","test-of-aquatic-mobility-of-sma-infants-100527787","NCT06152302","Test of Aquatic Mobility of SMA Infants","Analysis of Mobility in the Bath for Infants Affected With Spinal Muscular Atrophy","BAINSMA","Inclusion Criteria:\n\n* Infants with muscle weakness (commonly referred to as floppy babies):\n\n  * Confirmed diagnosis of SMA through gene mutation or deletion (SMN1 gene).\n  * Receiving standard care.\n  * Age less than 12 years and a height of less than 90 cm at the time of inclusion.\n* Patients enrolled in a social security scheme.\n* Informed consent signed by both parents of the child and the investigator.\n\nExclusion Criteria:\n\n* Patients presenting with lesions in the spinal cord or conditions affecting the cardiorespiratory system.\n* Patients covered under the French Aid in Health for Foreign People program (AME).","12 Months",{"count":57,"type":20},15,[23],"Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease impacting spinal cord motor neurons, leading to motor and respiratory issues and, ultimately, death. With emerging therapies, a need arises to enhance motor function assessment in severely hypotonic infants (SMA type 1) as traditional scales on examination tables lack completeness due to gravity's influence.\n\nThe study team has developed a \"bath test\" to observe infants' motor skills in water, eliminating gravity's effects. This test aims to detect subtle movements using inertial sensors, potentially revealing more active motor neurons in aquatic conditions. It aids in identifying infants with motor improvement potential, even if they show limited mobility outside water, and tracks disease progression and therapy responses.\n\nPresently, pediatric neurologists in France use parent-provided bathing videos for evaluations, but these lack standardization and precision. The study aims to establish a standardized evaluation protocol with quantifiable data.\n\nThe study's key objective is to evaluate severely hypotonic SMA infants using inertial sensors, including accelerometers, gyrometers, and magnetometers. The study will conduct \"dry\" and \"water\" assessments using a specially designed bathtub. This method's goal is to quantify water-based movements accurately.\n\nSimultaneously, the study seeks to establish semi-quantitative evaluation criteria to create a clinical assessment scale for infant motor function in bathtubs. This scale will aid doctors in therapeutic decisions. The study will not influence the treatment or therapeutic decisions made for the children being tested.\n\nCollected data from \"dry\" and \"water\" conditions will be statistically analyzed and compared to reference motor assessment scales (e.g., CHOP INTEND and HINE) and electromyography (CMAP-EMG) results, commonly used in diagnosis and monitoring. Blurred video recordings will assist in protocol monitoring and sensor data analysis.",[27],[62,63,64,65,66,67,68],"SMA","infantile","bath test","water mobility test","inertial sensors","floppy infant","Garches","2025-11-18",{"date":71,"type":38},"2025-11-21",{"date":73,"type":38},"2025-06-26",{"date":75,"type":20},"2026-06",{"name":77,"class":45},"Assistance Publique - Hôpitaux de Paris",1]