Diagnostic journey and treatment disparities for adults with spinal muscular atrophy at MedStar Health
Understanding the Diagnostic Pathway and Treatment Experience of Patients With Spinal Muscular Atrophy (SMA)
This project will see how adults with spinal muscular atrophy in the MedStar Health system experienced diagnosis, access to approved SMA therapies, and barriers to care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Medstar Health Research Institute Academic / other |
| Locations | 1 site (Washinton, District of Columbia) |
| Trial ID | NCT07223489 on ClinicalTrials.gov |
What this trial studies
This observational project uses a two-phase approach to document diagnostic timelines, genetic testing, treatment history, and demographic factors for adults with SMA treated within the MedStar Health system. Phase 1 is a retrospective chart review of up to 200 patients to identify patterns of diagnosis, genetic confirmation, and treatment uptake. Phase 2 invites eligible adults to one 60-minute telephone interview to discuss their diagnostic experiences, understanding of SMA, access to therapies, and barriers encountered. The combined data will be used to describe disparities in treatment and care coordination within this regional health system.
Who should consider this trial
Good fit: Ideal participants are adults (age ≥18) with a confirmed diagnosis of SMA who receive care within the MedStar Health system and can complete a one-hour telephone interview.
Not a fit: Patients who are deceased, under 18, receive care outside MedStar Health, or are unable to complete a telephone interview are unlikely to benefit from participation.
Why it matters
Potential benefit: If successful, the findings could reveal specific gaps in diagnosis and access and guide interventions to improve timely treatment and equity for adults with SMA.
How similar studies have performed: Retrospective chart reviews and qualitative interviews have been used in SMA research before and have identified diagnostic delays and treatment access disparities, so this approach is established.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * SMA diagnosis, age greater than or equal to 18 years Exclusion Criteria: * Deceased
Where this trial is running
Washinton, District of Columbia
- MedStar Health Research Institute — Washinton, District of Columbia, United States (Recruiting)
Study contacts
- Study coordinator: Gabrielle Edwards, BS
- Email: gabrielle.edwards@medstar.net
- Phone: 2022219998
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.