[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT07223489":3,"trial-entities:NCT07223489":70,"trial-summary:NCT07223489":74},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":21,"primary_purpose":22,"phases":23,"enrollment_info":24,"interventions":27,"primary_outcomes":32,"secondary_outcomes":37,"sex":38,"minimum_age":39,"maximum_age":22,"healthy_volunteers":15,"eligibility_criteria":40,"std_ages":46,"locations":49,"central_contacts":65,"overall_officials":67,"references":68,"see_also_links":69},"NCT07223489","ML46436","Diagnostic Journey, Patient Experience, and Disparities in the Treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System","Understanding the Diagnostic Pathway and Treatment Experience of Patients With Spinal Muscular Atrophy (SMA)","RECRUITING","2026-12-30","2026-01","2026-01-16","2025-10-10","Medstar Health Research Institute","OTHER",false,"Evaluate the diagnostic journey, patient experience, and disparities in the treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System.","Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder caused by mutations in the SMN1 gene, leading to degeneration of motor neurons and progressive muscle weakness. While disease-modifying therapies such as nusinersen (Spinraza), onasemnogene abeparvovec-xioi (Zolgensma), and risdiplam (Evrysdi) have significantly improved outcomes for individuals with SMA, access to these treatments remains inconsistent-especially among adults. Many adults with SMA remain untreated or experience long delays in diagnosis and initiation of therapy, reflecting potential gaps in awareness, care coordination, and health equity.\n\nThis observational, two-phase study will evaluate the diagnostic pathways and treatment experiences of SMA patients receiving care within the MedStar Health System.\n\nPhase 1 (Retrospective Chart Review): Medical records will be reviewed to characterize diagnostic timelines, genetic confirmation, treatment history, and demographic variables. This phase will identify eligible participants for qualitative interviews and describe patterns of treatment uptake and care access.\n\nPhase 2 (Qualitative Interviews): Eligible patients aged 18 years or older will be invited to participate in one-time telephone interviews lasting approximately 60 minutes. Interviews will explore patients' diagnostic experiences, understanding of their condition, access to therapies, barriers encountered, and perceived quality of care.\n\nThe study will enroll up to 200 participants, beginning with the Georgetown Neurology clinic and expanding across the MedStar Health network. Participation involves minimal risk. The primary risks are potential discomfort in discussing personal health experiences and loss of confidentiality, which will be minimized through secure data handling procedures, staff training, and voluntary participation.\n\nResults will inform strategies to improve SMA diagnosis and care pathways, particularly among underserved populations. Findings may also support health system initiatives to reduce disparities in access to specialized neuromuscular care.",[19],"Spinal Muscular Atrophy (SMA)",[],"OBSERVATIONAL",null,[],{"count":25,"type":26},200,"ESTIMATED",[28],{"type":29,"name":30,"description":31},"BEHAVIORAL","Telephone Interview","Telephone interviews to gather qualitative data on SMA patients' diagnostic journey, access to treatment and barriers encountered, understanding of their disease, and quality of life measures",[33],{"measure":34,"description":35,"timeFrame":36},"Proportion of SMA patients not receiving disease-modifying therapy and categorical causes for non-treatment based on structured patient\u002Fcaregiver survey responses","The primary outcome assesses the percentage of patients with a confirmed diagnosis of spinal muscular atrophy (SMA) who are not currently receiving an FDA-approved disease-modifying therapy (nusinersen, risdiplam, or onasemnogene abeparvovec). Data are collected through a structured telephone or in-person survey using the Lost to Follow-Up Interview Questionnaire, designed to identify categorical reasons for non-treatment. Categories include insurance or financial barriers, clinical contraindications, patient preference, adverse effects, loss to follow-up, or access limitations. The outcome will quantify the proportion of patients in each category to identify predominant causes of non-treatment and guide future outreach and care re-engagement strategies.\n\nUnit of Measure:\n\nPercentage of participants.","2020-2025",[],"ALL","18 Years",{"inclusion":41,"exclusion":43,"raw_text":45},[42],"SMA diagnosis, age greater than or equal to 18 years",[44],"Deceased","Inclusion Criteria:\n\n* SMA diagnosis, age greater than or equal to 18 years\n\nExclusion Criteria:\n\n* Deceased",[47,48],"ADULT","OLDER_ADULT",[50],{"facility":51,"status":8,"city":52,"state":53,"zip":54,"country":55,"contacts":56},"MedStar Health Research Institute","Washinton","District of Columbia","20010","United States",[57,62],{"name":58,"role":59,"phone":60,"email":61},"Gabrielle Edwards, BS","CONTACT","2022219998","gabrielle.edwards@medstar.net",{"name":63,"role":64},"Nicholas Streicher, MD","PRINCIPAL_INVESTIGATOR",[66],{"name":58,"role":59,"phone":60,"email":61},[],[],[],{"nct_id":4,"conditions":71,"biomarkers":73},[72],"Spinal Muscular Atrophy",[],{"nct_id":4,"found":75,"summary":76,"prompt_version":86},true,{"design":77,"status":78,"heading":79,"summary":80,"follow_up":81,"word_count":82,"commitments":83,"compensation":84,"drugs_mentioned":85},"This is an observational study with a planned enrollment of 200 participants. It involves reviewing medical records and conducting telephone interviews.","completed","Understanding SMA Experiences in MedStar Health","This observational study aims to understand the diagnostic journey, patient experiences, and treatment differences for people with Spinal Muscular Atrophy (SMA) within the MedStar Health System. We want to learn more about how people with SMA are diagnosed, their experiences with treatments like nusinersen (Spinraza), onasemnogene abeparvovec-xioi (Zolgensma), and risdiplam (Evrysdi), and any challenges they face. We are looking for adults (18 years or older) who have an SMA diagnosis. The main goal is to find out how many SMA patients are not receiving disease-modifying therapy and why, based on surveys with patients or their caregivers. The study status is currently unclear.","The primary endpoint data will be measured between 2020 and 2025.",102,"If you are eligible, you may be invited to participate in a one-time telephone interview lasting about 60 minutes.","Not stated in the trial record.",[],"v2"]