Understanding the Diagnostic Pathway and Treatment Experience of Patients With Spinal Muscular Atrophy (SMA)
Medstar Health Research Institute
Summary
Evaluate the diagnostic journey, patient experience, and disparities in the treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System.
Description
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 coord…
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * SMA diagnosis, age greater than or equal to 18 years Exclusion Criteria: * Deceased
Interventions
- BehavioralTelephone 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
Location
- MedStar Health Research InstituteWashinton, District of Columbia