Spinal Muscular AtrophyNCT06955897
Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA
An observational study of Spinal Muscular Atrophy, run by Columbia University at 1 site in United States.
Trial summary
The purpose of this project is to investigate the utility of the SMA EFFORT, an SMA-specific patient-reported outcome measure, to assess perceived physical fatigability that is anchored to intensity and duration of activities. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- Observational
- How many people
- 45 participants
- Where
- 1 siteUnited States
- Study dates
- 24 Apr 2025to 26 Mar 2028
- 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 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 12 years and older, with genetic diagnosis of all types of 5qSMA, treated with nusinersen (12 or 28 mg) for at least 6 months, will be included.
Who may be able to join
- All types of 5qSMA (homozygous deletion or point mutation of the SMN1 gene and any number of SMN2 copies)
- Receiving a stable dosing regimen of 12 or 28 mg nusinersen for at least 6 months
Who cannot join
- An injury or surgery within the previous 3 months that would impact their ability to perform in-clinic function and/or fatigability assessments
- Enrolled in an ongoing clinical trial, or extension study, expanded access program, or long-term registry of an investigational or recently approved medication
- Receiving adjuvant and/or dual therapy (e.g., muscle-targeted, NMJ, or symptomatic treatments)
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
Columbia University Irving Medical Center
New York, New York, 10032
Jacqueline Montes, PT EdD, 2123058916, jm598@cumc.columbia.edu
Rafael Rodriguez-Torres, DPT, 347-287-7093, rsr2157@cumc.columbia.edu
About this study
Official title: Characterizing Perceived Physical Fatigability in Nusinersen-treated Adolescents and Adults: The SMA EFFORT
The purpose of this project is to investigate the utility of the SMA EFFORT, an SMA-specific patient-reported outcome measure, to assess perceived physical fatigability that is anchored to intensity and duration of activities. We aim to characterize perceived physical fatigability (PPF) in a diverse cohort of people with SMA (pwSMA) and evaluate the change of PPF before and after nusinersen dosing.
Read the detailed description
Fatigue and fatigability are symptoms often experienced by people living with spinal muscular atrophy (pwSMA). Nusinersen is shown to extend survival and improve motor function, but fatigue and fatigability persist. Treated patients report changes in their ability to complete repetitive physical activities but a way for measuring this has not been created. While tests completed in the clinic by individuals with SMA highlight that fatigability is an important part of the SMA experience,we do not fully understand how pwSMA experience fatigability with everyday tasks. Anecdotal reports of pwSMA suggest a waning effect in endurance toward the end of their treatment window, however this change has not been measured.The SMA EFFORT is specifically designed for pwSMA and aims to better understand how they feel when completing daily physical activities.
- Conditions
- Spinal Muscular Atrophy
- Being tested
- Observational
- Keywords
- spinal muscular atrophy, neuromuscular disease, nusinersen, fatigability, exercise, SMA, fatigue
- Medical subject headings
- Muscular Atrophy, Spinal, Neuromuscular Diseases, Motor Activity, Fatigue
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ObservationalOther
Observational
| Study group | Role | What they receive |
|---|---|---|
| Walkers | Participants with SMA who are able to walk without assistance. Receives: Other: Observational | |
| Sitters | Participants with SMA who are unable to walk without assistance, but are able to sit independently. Receives: Other: Observational | |
| Non-sitters | Participants with SMA who are unable to sit without assistance. Receives: Other: Observational |
What is being measured
The primary outcome is the main question the study is designed to answer.
SMA EFFORT
The SMA EFFORT is a perceived physical fatigability patient-reported outcome measure (PROM) that provides a percent (PPF%) total score to each participant based on their participation over the past 30 days.
Measured: Baseline, 1 week, 1 month
Secondary outcomes (6)
Revised Upper Limb Module (RULM)
The RULM is used to assess motor function of the shoulder, mid-level elbow, wrist, and hand.
Measured: Baseline
Hammersmith Functional Motor Scale Expanded (HFMSE)
The HFMSE is a 33-item scale designed to assess gross motor function in sitters and walkers with SMA.
Measured: Baseline
Six-Minute Walk Test (6MWT)
The 6MWT is an objective evaluation of functional exercise capacity which measures the maximum distance a person can walk in six minutes over a 25-meter linear course.
Measured: Baseline
Six-Minute Mastication Test (6MMT)
The 6MMT is a measure of chewing endurance in which the individual is asked to continuously chew on a chewing tube for a period of six minutes.
Measured: Baseline
Endurance Shuttle Box and Block Test (ESSBT)
The ESSBT is a test of upper limb function that has been adapted to assess performance fatigability in SMA.
Measured: Baseline
Endurance Shuttle Nine-Hole Peg Test (ESNHPT)
The ESNHPT is used to assess more distal, fine motor upper extremity performance fatigability.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 May 2025
- Study start24 Apr 2025
- Primary completion6 Sep 2027 (estimated)
- Study completion26 Mar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Biogen
- Responsible party
- Principal investigator, Jacqueline Montes, Columbia University
- Investigators
- Jacqueline Montes, Pt, EdD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06955897
- Sponsor's protocol ID
- AAAV5804
- Status last verified
- May 2026
- First submitted
- 25 Apr 2025
- Last updated
- 14 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 14 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterizing Perceived Physical Fatigability in Nusinersen-treated Adolescents and Adults: The SMA EFFORT
- ClinicalTrials.gov ID
- NCT06955897
- Acronym / sponsor ID
- AAAV5804
- Conditions
- Spinal Muscular Atrophy
- Keywords
- spinal muscular atrophy, neuromuscular disease, nusinersen, fatigability, exercise, SMA, fatigue
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Biogen
- Study start
- 24 Apr 2025 (actual)
- Primary completion
- 6 Sep 2027 (estimated)
- Study completion
- 26 Mar 2028 (estimated)
- First posted
- 2 May 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.
The purpose of this project is to investigate the utility of the SMA EFFORT, an SMA-specific patient-reported outcome measure, to assess perceived physical fatigability that is anchored to intensity and duration of activities. We aim to characterize perceived physical fatigability (PPF) in a diverse cohort of people with SMA (pwSMA) and evaluate the change of PPF before and after nusinersen dosing.
Detailed description
Fatigue and fatigability are symptoms often experienced by people living with spinal muscular atrophy (pwSMA). Nusinersen is shown to extend survival and improve motor function, but fatigue and fatigability persist. Treated patients report changes in their ability to complete repetitive physical activities but a way for measuring this has not been created. While tests completed in the clinic by individuals with SMA highlight that fatigability is an important part of the SMA experience,we do not fully understand how pwSMA experience fatigability with everyday tasks. Anecdotal reports of pwSMA suggest a waning effect in endurance toward the end of their treatment window, however this change has not been measured.The SMA EFFORT is specifically designed for pwSMA and aims to better understand how they feel when completing daily physical activities.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Walkers | – | Other: ObservationalParticipants with SMA who are able to walk without assistance. |
| Sitters | – | Other: ObservationalParticipants with SMA who are unable to walk without assistance, but are able to sit independently. |
| Non-sitters | – | Other: ObservationalParticipants with SMA who are unable to sit without assistance. |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 12 years and older, with genetic diagnosis of all types of 5qSMA, treated with nusinersen (12 or 28 mg) for at least 6 months, will be included.
Key inclusion criteria (2 listed)
- All types of 5qSMA (homozygous deletion or point mutation of the SMN1 gene and any number of SMN2 copies)
- Receiving a stable dosing regimen of 12 or 28 mg nusinersen for at least 6 months
Key exclusion criteria (3 listed)
- An injury or surgery within the previous 3 months that would impact their ability to perform in-clinic function and/or fatigability assessments
- Enrolled in an ongoing clinical trial, or extension study, expanded access program, or long-term registry of an investigational or recently approved medication
- Receiving adjuvant and/or dual therapy (e.g., muscle-targeted, NMJ, or symptomatic treatments)
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 |
|---|---|---|
| ObservationalObservational | Other | Non-sitters, Sitters, Walkers |
Primary outcome
SMA EFFORT
Time frame: Baseline, 1 week, 1 month
The SMA EFFORT is a perceived physical fatigability patient-reported outcome measure (PROM) that provides a percent (PPF%) total score to each participant based on their participation over the past 30 days.
6 secondary outcomes
Revised Upper Limb Module (RULM)
Time frame: Baseline
Hammersmith Functional Motor Scale Expanded (HFMSE)
Time frame: Baseline
Six-Minute Walk Test (6MWT)
Time frame: Baseline
Six-Minute Mastication Test (6MMT)
Time frame: Baseline
Endurance Shuttle Box and Block Test (ESSBT)
Time frame: Baseline
Endurance Shuttle Nine-Hole Peg Test (ESNHPT)
Time frame: Baseline
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 14 Oct 2026.
- Individual participant dataSharing planned: Undecided
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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.
Jacqueline Montes, Pt, EdD principal investigator
Columbia University
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, run by Columbia University 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 2 inclusion and 3 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 14 Oct 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 Rafael Rodriguez-Torres, DPT (3472877093, rsr2157@cumc.columbia.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
SMA EFFORT (time frame: Baseline, 1 week, 1 month). 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 14 Oct 2026.