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

NCT07223489 | Recruiting

• 1 other identifier: ML46436
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Spinal Muscular Atrophy (SMA)

Outcome Measures

Primary Outcomes (1)

• 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

Interventions

Telephone Interview BEHAVIORAL

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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

SMA patients within the MedStar Health Network

You may qualify if:

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

You may not qualify if:

• Deceased

Sponsors & Collaborators

• Medstar Health Research Institute: lead

Study Sites (1)

MedStar Health Research Institute

Washinton, District of Columbia, 20010, United States

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Interventions

Interviews as Topic

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Central Study Contacts

Gabrielle Edwards, BS

CONTACT

2022219998; gabrielle.edwards@medstar.net

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Physician

Study Record Dates

• First Submitted: October 29, 2025
• First Posted: October 31, 2025
• Study Start: October 10, 2025
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): December 30, 2026
• Last Updated: January 16, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)