Actively Recruiting
Understanding the Diagnostic Pathway and Treatment Experience of Patients With Spinal Muscular Atrophy (SMA)
Led by Medstar Health Research Institute · Updated on 2026-01-16
200
Participants Needed
1
Research Sites
26 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to understand the diagnostic journey, patient experiences, and treatment disparities for adults with Spinal Muscular Atrophy (SMA) within the MedStar Health System. SMA is a genetic disorder that causes muscle weakness due to motor neuron loss. Although treatments like nusinersen, onasemnogene abeparvovec-xioi, and risdiplam have improved outcomes, many adults face challenges in diagnosis and accessing therapies, highlighting possible gaps in care and equity. The study has two phases. The first phase reviews medical records to analyze diagnosis timelines, genetic confirmation, treatment histories, and patient demographics. The second phase involves one-time telephone interviews lasting about 60 minutes with eligible adults to discuss their diagnostic experiences, understanding of SMA, access to treatments, barriers faced, and quality of care. Participants will be involved through medical record review and interviews, with up to 200 adults expected to join. Researchers will assess the proportion of SMA patients not receiving disease-modifying therapies and reasons for non-treatment based on survey responses. The study minimizes risks related to sharing personal health information through secure data handling and voluntary participation. Results aim to improve diagnosis and care strategies for adults with SMA, especially those underserved.
CONDITIONS
Brief Title
Diagnostic Journey, Patient Experience, and Disparities in the Treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosed with Spinal Muscular Atrophy (SMA)
- Age 18 years or older
You will not qualify if you...
- Deceased
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 screening and enrollment visit (may be combined)
Duration - Retrospective data review period
Participants’ medical records are reviewed to understand their diagnostic timelines, genetic confirmation, and treatment history for Spinal Muscular Atrophy.
No in-person visits; data collected from medical records
Duration - Single session lasting approximately 60 minutes
Participants complete a one-time telephone interview exploring their diagnostic experience, access to treatment, barriers encountered, and quality of care.
1 telephone interview
Trial Site Locations
Total: 1 location
1
MedStar Health Research Institute
Washinton, District of Columbia, United States, 20010
Actively Recruiting
Research Team
G
Gabrielle Edwards, BS
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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