[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"spinal-muscular-atrophy-type-i\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:spinal-muscular-atrophy-type-i":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,42],{"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":26,"conditions":27,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100598400","phase-1-study-of-safety-tolerability-and-efficacy-of-gb221-in-infants-with-spinal-muscular-atrophy-type-1-100598400",false,"NCT07070999","Study of Safety, Tolerability and Efficacy of GB221 in Infants With Spinal Muscular Atrophy Type 1","A Phase 1-2, Open-Label, Multicenter Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of GB221 Delivered Into the Cisterna Magna of Pediatric Participants From 2 Weeks to Younger Than 12 Months of Age With Spinal Muscular Atrophy Type 1","Inclusion Criteria:\n\n* Symptomatic Participants\n\n  1. Diagnosis of SMA Type 1 based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and up to 3 copies of SMN2\n  2. Participants must be 2 weeks to \\\u003C 12 months of age at the time of dosing with disease onset of during the first 6 months of life.\n* Presymptomatic Participants\n\n  1. At risk of SMA Type 1 based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and up to 2 copies of SMN2\n  2. Participants must be 2 weeks to \\\u003C 5 months (\\\u003C 150 days) of age at the time of dosing.\n\nExclusion Criteria:\n\n1. Any suspected or confirmed active viral infection at screening baseline (including HIV, Hepatitis B or C, or human T Cell lymphotropic viruses \\[HTLV\\])\n2. History of invasive ventilatory support (tracheotomy with positive pressure) or pulse oximetry \\\u003C95% saturation.\n3. Ongoing immunosuppressive therapy or immunosuppressive therapy within 3 months of starting the trial (e.g. corticosteroids, cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab)\n4. Participation in a recent SMA treatment clinical trial that, in the opinion of the Investigator, creates unnecessary risks for gene transfer.\n5. Prior history of gene therapy for any indication, hematopoietic transplant or solid organ transplant\n6. Subjects with severe scoliosis\n7. Known allergy or hypersensitivity to prednisolone or other glucocorticosteroids or their excipients.","ALL","2 Weeks","12 Months",{"count":20,"type":21},22,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","GB221 is a gene therapy that delivers a working SMN1 gene to the motor neurons of people with spinal muscular atrophy (SMA) Type 1. This study will evaluate the safety, tolerability and efficacy of GB221 in two groups:\n\n1. participants aged from 2 weeks to younger than 12 months presenting with symptoms of SMA Type 1 who have never received a treatment OR are receiving the drug risdiplam\n2. participants aged from 2 weeks to younger than 5 months who are at risk of developing SMA Type 1 (presymptomatic) and have never received treatment OR are receiving the drug risdiplam.",[28],"Spinal Muscular Atrophy Type I","RECRUITING","2026-06-26",{"date":32,"type":33},"2026-06-29","ACTUAL",{"date":35,"type":33},"2026-01-06",{"date":37,"type":21},"2029-04",{"name":39,"class":40},"Gemma Biotherapeutics","INDUSTRY",1,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":46,"acronym":47,"eligibilityCriteria":48,"healthyVolunteers":49,"sex":16,"minAge":50,"maxAge":4,"enrollmentInfo":51,"targetDuration":4,"studyType":53,"phases":4,"briefSummary":54,"conditions":55,"keywords":4,"overallStatus":57,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":65,"locationsCount":4},"100609003","psychological-evaluation-of-the-parental-experience-of-newborn-screening-for-infantile-spinal-muscular-atrophy-in-the-grand-est-and-nouvelle-aquitaine-regions-100609003","NCT07208903","Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions","PSYSMA","Inclusion Criteria:\n\n* Be the parent of a child included in the DEPISMA study, born in the Grand Est or Nouvelle-Aquitaine region;\n* Have received a positive or false-negative result from the neonatal SMA screening;\n* Be an adult at the time of inclusion;\n* Be proficient in French in order to participate in a focus group or an individual interview, and to complete the self-administered questionnaires;\n* Have been informed of the NNS result for at least 4 months, to allow sufficient time for a subjective reflection\n\nExclusion Criteria:\n\n* Parent who is not sufficiently proficient in French to participate in focus groups or complete questionnaires\n* Death of the child who was screened",true,"18 Years",{"count":52,"type":21},36,"OBSERVATIONAL","The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health. While this screening enables early detection and therapeutic intervention before symptom onset, it also raises psychological and ethical challenges that remain underexplored-particularly during the highly sensitive postpartum period.\n\nCurrently, data on parental experiences following a positive SMA NGS result are scarce, fragmented, and largely derived from North American studies or from metabolic screening contexts. Early publications highlight high levels of parental anxiety, dissatisfaction with the quality of result disclosure, and difficulties in processing complex medical information in a short, emotionally charged timeframe. These findings underscore the need for a deeper understanding of the subjective processes at play in this situation.\n\nThe PSYSMA project is designed as an ancillary study to the DEPISMA trial. Its aim is to retrospectively explore parents' lived experiences, their psychosocial support needs, and the impact of NGS on family dynamics and the parent-child relationship. Special attention is given to cases with uncertain results (e.g., ≥4 SMN2 copies without treatment) and false negatives, which remain poorly documented but may trigger unique forms of parental anxiety or adaptation.\n\nThis research is justified by two main needs:\n\n* to guide public health policy toward integrating psychological support from the earliest stages of screening, in line with French National Health Authority (HAS) recommendations;\n* to generate new knowledge transferable to other genetic diseases that may be included in future neonatal screening programs.\n\nThe overarching goal is to retrospectively investigate the psychological experience of parents confronted with a positive or false-negative SMA NGS result, in order to analyze its subjective, emotional, and relational effects, as well as related needs for psychological support.\n\nStudy objectives :\n\n* Compare parental experiences according to the nature of the result (with or without treatment indication).\n* Identify psychosocial support needs, including for siblings.\n* Assess anxiety, depression, and post-traumatic symptoms associated with NGS.\n* Explore the broader impact on family functioning, particularly in relation to genetic counseling and communication within the extended family.",[56,28],"Spinal Muscular Atrophy (SMA)","NOT_YET_RECRUITING","2025-10-02",{"date":60,"type":33},"2025-10-06",{"date":62,"type":21},"2025-10-20",{"date":64,"type":21},"2026-10-20",{"name":66,"class":67},"University Hospital, Strasbourg, France","OTHER"]