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

Understanding the Diagnostic Pathway and Treatment Experience of Patients With Spinal Muscular Atrophy (SMA)

Evaluate the diagnostic journey, patient experience, and disparities in the treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System.

Study Overview

• Status: Recruiting
• Conditions: Spinal Muscular Atrophy (SMA)
• Intervention / Treatment: Behavioral: Telephone Interview

Detailed 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 coordination, and health equity.

This observational, two-phase study will evaluate the diagnostic pathways and treatment experiences of SMA patients receiving care within the MedStar Health System.

Phase 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.

Phase 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.

The 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.

Results 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.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Gabrielle Edwards, BS; Phone Number: 2022219998; Email: gabrielle.edwards@medstar.net

Study Locations

• United States
  • District of Columbia
    • Washinton, District of Columbia, United States, 20010
      • Recruiting
      • Medstar Health Research Institute
      • Principal Investigator: Nicholas Streicher, MD
      • Contact: Gabrielle Edwards, BS; Phone Number: 2022219998; Email: gabrielle.edwards@medstar.net

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

SMA patients within the MedStar Health Network

Description

Inclusion Criteria:

• SMA diagnosis, age greater than or equal to 18 years

Exclusion Criteria:

• Deceased

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Proportion of SMA patients not receiving disease-modifying therapy and categorical causes for non-treatment based on structured patient/caregiver 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. Unit of Measure: Percentage of participants.	2020-2025

Collaborators and Investigators

• Sponsor: Medstar Health Research Institute

Study record dates

Study Major Dates

• Study Start (Actual): October 10, 2025
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): December 30, 2026

Study Registration Dates

• First Submitted: October 29, 2025
• First Submitted That Met QC Criteria: October 29, 2025
• First Posted (Estimated): October 31, 2025

Study Record Updates

• Last Update Posted (Estimated): January 16, 2026
• Last Update Submitted That Met QC Criteria: January 14, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy, Spinal; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Interviews as Topic
• Other Study ID Numbers: ML46436

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No