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.

Study design
This is an observational study with a planned enrollment of 200 participants. It involves reviewing medical records and conducting telephone interviews.
What's involved
If you are eligible, you may be invited to participate in a one-time telephone interview lasting about 60 minutes.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint data will be measured between 2020 and 2025.

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NCT07223489

Diagnostic Journey, Patient Experience, and Disparities in the Treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System

Recruiting
Not specifiedAges 18+Observational
Medstar Health Research Institute
~200 participants
Updated 2026-01-16 on ClinicalTrials.gov
What's tested:Telephone Interview

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Proportion of SMA patients not receiving disease-modifying therapy and categorical causes for non-treatment based on structured patient/caregiver survey responses
Measured over 2020-2025
Spinal Muscular Atrophy (SMA)
1 sites across 1 states
District of Columbia1

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Eligibility criteria

Inclusion

SMA diagnosis, age greater than or equal to 18 years

Exclusion

Deceased
  • Proportion of SMA patients not receiving disease-modifying therapy and categorical causes for non-treatment based on structured patient/caregiver survey responses2020-2025

    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. Unit of Measure: Percentage of participants.