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
- Are there results?
- Not yet: the study is under way
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
Study at a glance
From the registry record, last updated by the sponsor on 16 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Understanding the Diagnostic Pathway and Treatment Experience of Patients With Spinal Muscular Atrophy (SMA)
- ClinicalTrials.gov ID
- NCT07223489
- Acronym / sponsor ID
- SMA / ML46436
- Conditions
- Spinal Muscular Atrophy (SMA)
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Medstar Health Research InstituteUniversity, hospital or other
- Study start
- 10 Oct 2025 (actual)
- Primary completion
- 30 Jun 2026 (estimated)
- Study completion
- 30 Dec 2026 (estimated)
- First posted
- 31 Oct 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Evaluate the diagnostic journey, patient experience, and disparities in the treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System.
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 design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- SMA patients within the MedStar Health Network
Key inclusion criteria (1 listed)
- SMA diagnosis, age greater than or equal to 18 years
Key exclusion criteria (1 listed)
- Deceased
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Telephone InterviewTelephone 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 | Behavioural | – |
Primary outcome
Proportion of SMA patients not receiving disease-modifying therapy and categorical causes for non-treatment based on structured patient/caregiver survey responses
Time frame: 2020-2025
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jan 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy (SMA), run by Medstar Health Research Institute at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 16 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Gabrielle Edwards, BS (2022219998, gabrielle.edwards@medstar.net), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of SMA patients not receiving disease-modifying therapy and categorical causes for non-treatment based on structured patient/caregiver survey responses (time frame: 2020-2025). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jan 2026.