Spinal Muscular Atrophy (SMA)SMANCT07223489
Diagnostic Journey, Patient Experience, and Disparities in the Treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System
An observational study of Spinal Muscular Atrophy (SMA), run by Medstar Health Research Institute at 1 site in United States.
Trial summary
Evaluate the diagnostic journey, patient experience, and disparities in the treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Spinal Muscular Atrophy (SMA)
- What is being tested?
- Telephone Interview
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Oct 2025to 30 Dec 2026
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: SMA patients within the MedStar Health Network
Who may be able to join
- SMA diagnosis, age greater than or equal to 18 years
Who cannot join
- Deceased
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
MedStar Health Research Institute
Washinton, District of Columbia, 20010
Gabrielle Edwards, BS, 2022219998, gabrielle.edwards@medstar.net
Nicholas Streicher, MD
About this study
Official title: 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.
Read the 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.
- Conditions
- Spinal Muscular Atrophy (SMA)
- Being tested
- Telephone Interview
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Telephone InterviewBehavioural
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
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 2020-2025
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Oct 2025
- Study start10 Oct 2025
- Primary completion30 Jun 2026 (estimated)
- Study completion30 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular Atrophy (SMA)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Medstar Health Research Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Nicholas Streicher, Medstar Health Research Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07223489
- Sponsor's protocol ID
- ML46436
- Acronym
- SMA
- Status last verified
- Jan 2026
- First submitted
- 29 Oct 2025
- Last updated
- 16 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No