Spinal Muscular AtrophyNCT06532474
Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies
An observational study of Spinal Muscular Atrophy, run by St. Jude Children's Research Hospital at 1 site in United States.
Trial summary
In this observational study, researchers are looking at the effects of spinal muscular atrophy (SMA) drugs on the muscles and nerve cells in patients with SMA. Primary Objectives To evaluate the feasibility and reliability of performing MR functional imaging in exercising muscle in patients with SMA. Read more about this study
- Who is it for?
- Ages 5 to 20 years
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 24 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Oct 2025to Sep 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 5 to 20 years
- All sexes
- Child, Adult
Study population: Those who meet the Eligibility criteria and consent to enrollment on the study.
Who may be able to join
- Genetic confirmation of SMA with homozygous deletion of SMN1 or compound heterozygous deletion/mutation of SMN1
- Two, three, or four copies of SMN2
- Age 5 to 20 years
- Non-ambulatory participants: maximum function sitting or standing with support, HFMSE score at screening between 10 and 45 points.
- Ambulatory participants: minimum function of independent walking, able to walk unassisted a minimum of 100 meters at screening, HFMSE score at screening between 40 and 66.
- SMN-directed therapy inclusion:
Show all 19Show fewer
- Current Evrysdi prescription (Group 1)
- Must have Evrysdi prescription through their treating physician
- If initiating combined therapy using Evrysdi with Spinraza or Zolgensma, must have not started Evrysdi treatment OR
- Current Spinraza or Zolgensma prescription (Group 2)
- For patients on Spinraza, must have been taking Spinraza for at least 12 months at screening (4 loading and 2 maintenance doses) and following the FDA-recommended dosing schedule
- For patients on Zolgensma, must have been dosed at least one year prior to screening
- Must have Spinraza or Zolgensma prescription through their treating physician OR
- Changing from Spinraza or Zolgensma to Evrysdi (Group 3)
- For patients on Spinraza, must have been taking Spinraza for at least 12 months at screening (4 loading and 2 maintenance doses) and following the FDA-recommended dosing schedule
- For patients on Zolgensma, must have been dosed at least one year prior to screening
- Must have voluntarily decided to switch therapies based on discussion with their treating physician
- Must have Evrysdi prescription through their treating physician but have not yet initiated treatment OR
- Have never received any SMN-directed therapies (Group 4)
Who cannot join
- Any chronic medical condition, planned surgery, or treatment with a medication which would impact safety or participation of the study at the investigator's discretion
- Inability to perform reliably the motor function testing or the exercise testing in the MR scanner.
- Fat fraction > 35% in calf or bicep at screening MRI
- Need for routine non-invasive ventilation support.
- Non-oral nutritional support, e.g., gastrostomy tube feeding.
- Any ferrous metal implants (e.g., spinal rods) that preclude testing in a MR scanner.
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
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
Jean Laboe, RN, 901-595-1693, referralinfo@stjude.org
Richard Finkel, MD
About this study
Official title: Pilot Study Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies
In this observational study, researchers are looking at the effects of spinal muscular atrophy (SMA) drugs on the muscles and nerve cells in patients with SMA.
Primary Objectives
Read more
- To evaluate the feasibility and reliability of performing MR functional imaging in exercising muscle in patients with SMA.
- To evaluate patients with SMA types 2 and 3 at baseline and longitudinally at 6 and 12 months
Secondary Objectives
- To describe the MR functional bioenergetics response in muscles in five potential groups of patients with spinal muscular atrophy: untreated, actively treated with nusinersen (Spinraza®) or onasemnogene abeparvovec (Zolgensma®), actively treated with risdiplam (Evrysdi®), switching from Spinraza or Zolgensma to Evrysdi and initiating combination therapy of Spinraza or Zolgensma with Evrysdi .
- To identify changes in motor function in patients with SMA types 2 and 3 who initiate treatment with risdiplam.
- To obtain biomarkers in blood, urine, and muscle tissue to provide proof-of-concept support for risdiplam effect on skeletal muscle.
- To obtain quality of life and disability data from participants in this study.
Read the detailed description
This is an observational study to demonstrate the feasibility of performing MR functional imaging in exercising muscle in patients with SMA. The participants will be prescribed medication by their treating physician, they will not receive any drug as part of this study.
Participants participating in the ML43225 study, will be put into groups depending on their type of SMA and the drugs they may or may not be taking. They will be asked to come to clinic 3 times over one year. Each visit will include magnetic resonance (MR) studies, a muscle ultrasound, a nerve test, muscle function testing, lung function testing, blood work, vital signs, and participants will be asked about their quality of life and daily life activities. After participants have completed the 3 required visits, they will be taken off study.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Spinal Muscular Atrophy (SMA), SMA drugs, Responses of Skeletal Muscle, SMN-directed therapies, Eyrysdi, Spinraza, Zolgensma
- 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.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Current Evrysdi prescription or initiating combination therapy with Evrysdi to current Spinraza or Zolgenzma prescription | |
| Cohort 2 | Current Spinraza or Zolgensma prescription | |
| Cohort 3 | Changing from Spinraza or Zolgensma to Evrysdi | |
| Cohort 4 | Have never received any SMN-directed therapies |
What is being measured
The primary outcome is the main question the study is designed to answer.
Feasibility of performing MR functional imaging in SMA patients
MR functional imaging is considered feasible if ≥ 80% of MRI protocol eligible patients can complete 100% of imaging assessments at baseline and 6 months.
Measured: At baseline and at 6 months (+/- 14 days)
Reliability of performing MR functional imaging in SMA patients
MR functional imaging is considered reliable if the test-retest reliability is ≥ 0.80 for key imaging biomarkers.
Measured: At baseline and at 6 months (+/- 14 days)
Compare skeletal muscle oxidative phosphorylation bioenergetics in patients with SMA types 2 and 3 (phosphocreatine)
Real-time 31P MR spectroscopy and CrCEST MRI will be used to measure phosphocreatine within the muscles at rest, during an exercise protocol, and during post-exercise recovery to baseline. Both measure the recovery time in seconds.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Compare skeletal muscle oxidative phosphorylation bioenergetics in patients with SMA types 2 and 3 (creatine concentrations)
Real-time 31P MR spectroscopy and CrCEST MRI will be used to measure creatine concentrations within the muscles at rest, during an exercise protocol, and during post-exercise recovery to baseline. Both measure the recovery time in seconds.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Measure intramuscular fat fraction in major muscle extremity in patients with SMA types 2 and 3
Measurement of thickness of muscle compared to fat on MRI, measured in percentage.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Measure electrophysiological tests of motor neuron function to repetitive nerve stimulation in patients with SMA types 2 and 3
Electrophysiological testing: Compound motor action potential (CMAP, measured in millivolts), motor unit number estimate (MUNE, average 200-400 for most limb muscles), and repetitive stimulation at 3 Hz - right ulnar to abductor digiti minimus and right fibular/peroneal nerve to tibialis anterior muscle.
A decrease of more than 40% in the amplitude of CMAP is considered abnormal.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Secondary outcomes (19)
Identify changes in motor function in non-ambulant patients and ambulant patients with SMA types 2 and 3
The Hammersmith Functional Motor Scale Expanded (HFMSE) has a score range from 0-66 with lower scores indicating poorer overall motor function.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in non-ambulant patients with SMA types 2 and 3 - Revised Upper Limb Module
The Revised Upper Limb Module (RULM) has a score range 0-37 with lower scores indicating poorer upper limb motor function.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in non-ambulant patients with SMA types 2 and 3 - Block and Box Test
The Block and Box Test (BBT) is a measure of gross manual dexterity and is scored by counting the number of blocks carried from one compartment to another. Higher scores are indicative of better manual dexterity.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in ambulant patients with SMA types 2 and 3 - 6-Minute Walk
The 6-Minute Walk (6MW) Test measures how far someone can walk in six minutes, a higher score indicates better exercise tolerance score. A low score correlates with lower function.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in ambulant patients with SMA types 2 and 3 - 10 Meter Walk/Run
The 10 Meter Walk/Run (10MW) Test is measured in seconds and assesses walking speed over a short distance. Longer times indicate lower motor function
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in ambulant patients with SMA types 2 and 3 - 4-Stair Climb
The 4-Stair Climb (4SC) Test is measured in seconds and assesses lower extremity power and motor function. Longer times indicate lower motor function
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in ambulant patients with SMA types 2 and 3 - Supine-to-Stand Test
The Supine-to-Stand (STS) Test is measured in seconds and assesses the ability to move from laying on your back to standing up straight. Longer times indicate lower motor function.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in ambulant patients with SMA types 2 and 3 - Timed Up-and-Go Test
The Timed Up-and-Go (TUG) Test is measured in seconds and assesses the ability to stand up from sitting in a chair, walk 10 feet, turn around, walk back, and sit down. Longer times indicate lower motor function
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Assess myometry, or measurement of muscle strength
Myometry measures force in pounds or kilograms and measures the strength of a muscle group. The more force measured indicates more muscle strength.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Muscle ultrasound thickness and echogenicity of 5 muscles - 2 upper limb and 3 lower limb
Muscle thickness is measured in centimeters and echogenicity is measured in gray-scale value. Muscle thickness and echogenicity are related to muscle strength, physical function, muscle mass, and quality of muscle.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Plasma neurofilament light (NF-L) and phosphorylated heavy chain (pNF-H) levels
The NF-L and pNF-H levels are measured in nanograms per milliliter from blood samples and can be an indicator of nerve cell damage. Higher values normally mean more nerve damage is occurring.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Blood SMN protein levels
SMN protein levels are measured in nanograms per milliliter from blood samples. Higher values indicate more SMN protein production which is normally deficit in people with SMA.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Pyruvic acid (mg/dL)
This parameters has been added to better understand systemic glycolysis in this population in the context of measuring bioenergetics in muscle via fMRS. A normal blood pyruvic acid level is between 0.3 and 1.5 milligrams per deciliter (mg/dL). Elevated pyruvic acid in glycolysis usually indicates a disruption in the normal metabolic pathway.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Lactic Acid (millimoles per liter)
This parameter has been added to better understand systemic glycolysis in this population in the context of measuring bioenergetics in muscle via fMRS. Normally, blood lactate levels are between 1-2 mmol/L when not exercising. Elevated lactic acid during glycolysis indicates that the body is primarily relying on anaerobic glycolysis, meaning it is breaking down glucose for energy without sufficient oxygen, leading to a buildup of lactate as a byproduct.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Lactate dehydrogenase (LDH) (units per liter (U/L)
This parameters has been added to better understand systemic glycolysis in this population in the context of measuring bioenergetics in muscle via fMRS. Normal LDH levels in children vary by age. Normal adult range is 140-280 U/L. An elevated level of lactate dehydrogenase (LDH) in glycolysis indicates an increased rate of anaerobic metabolism.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Trough risdiplam drug levels
Trough risdiplam drug level is measured in nanograms per milliliter from blood samples and indicates the concentration of risdiplam in someone's blood stream. Higher values mean someone has more risdiplam exposure.
This will only be tested on participants who are taking the drug risdiplam.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Quality of life (QOL) and disability information - Pediatric Quality of Life Inventory (PedsQL)
The Pediatric Quality of Life Inventory (PedsQL) is a 23-item questionnaire measuring health-related quality of life in children and adolescents aged 2-18. Higher scores indicate better quality of life.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
QOL and disability information - Pediatric Outcomes Data Collection Instrument (PODCI)
The Pediatric Outcomes Data Collection Instrument (PODCI) is an 83-86 item questionnaire that measures the health-related quality of life for children and adolescents with musculoskeletal disorders aged 2-18. Higher scores indicate better quality of life.
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
QOL and disability information - SMA Health Index (SMA-HI)
The SMA Health Index (SMA-HI) is a 107 item questionnaire that measures a patient's perception of disease burden in 15 areas of health related to SMA. Higher scores indicate more SMA disease burden
Measured: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Aug 2024
- Study start29 Oct 2025
- Primary completionSep 2027 (estimated)
- Study completionSep 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 St. Jude Children's Research HospitalThe 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 24 participants (estimated)
Sponsor and investigators
- Lead sponsor
- St. Jude Children's Research Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Genentech, Inc.
- Responsible party
- Sponsor
- Investigators
- Richard Finkel, MD, Principal investigator, St. Jude Children's Research Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06532474
- Sponsor's protocol ID
- ML43225
- Status last verified
- Jul 2026
- First submitted
- 29 Jul 2024
- Last updated
- 9 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pilot Study Exploring the Physiologic, Pharmacodynamic, and Clinical Responses of Skeletal Muscle in Patients With Spinal Muscular Atrophy Treated With SMN-Directed Therapies
- ClinicalTrials.gov ID
- NCT06532474
- Acronym / sponsor ID
- ML43225
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Spinal Muscular Atrophy (SMA), SMA drugs, Responses of Skeletal Muscle, SMN-directed therapies, Eyrysdi, Spinraza, Zolgensma
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 24 participants (estimated)
- Lead sponsor
- St. Jude Children's Research HospitalUniversity, hospital or other
- Collaborators
- Genentech, Inc.
- Study start
- 29 Oct 2025 (actual)
- Primary completion
- Sep 2027 (estimated)
- Study completion
- Sep 2028 (estimated)
- First posted
- 1 Aug 2024 (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.
In this observational study, researchers are looking at the effects of spinal muscular atrophy (SMA) drugs on the muscles and nerve cells in patients with SMA.
Primary Objectives
- To evaluate the feasibility and reliability of performing MR functional imaging in exercising muscle in patients with SMA.
- To evaluate patients with SMA types 2 and 3 at baseline and longitudinally at 6 and 12 months
Secondary Objectives
- To describe the MR functional bioenergetics response in muscles in five potential groups of patients with spinal muscular atrophy: untreated, actively treated with nusinersen (Spinraza®) or onasemnogene abeparvovec (Zolgensma®), actively treated with risdiplam (Evrysdi®), switching from Spinraza or Zolgensma to Evrysdi and initiating combination therapy of Spinraza or Zolgensma with Evrysdi .
- To identify changes in motor function in patients with SMA types 2 and 3 who initiate treatment with risdiplam.
- To obtain biomarkers in blood, urine, and muscle tissue to provide proof-of-concept support for risdiplam effect on skeletal muscle.
- To obtain quality of life and disability data from participants in this study.
Detailed description
This is an observational study to demonstrate the feasibility of performing MR functional imaging in exercising muscle in patients with SMA. The participants will be prescribed medication by their treating physician, they will not receive any drug as part of this study.
Participants participating in the ML43225 study, will be put into groups depending on their type of SMA and the drugs they may or may not be taking. They will be asked to come to clinic 3 times over one year. Each visit will include magnetic resonance (MR) studies, a muscle ultrasound, a nerve test, muscle function testing, lung function testing, blood work, vital signs, and participants will be asked about their quality of life and daily life activities. After participants have completed the 3 required visits, they will be taken off study.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | – | –Current Evrysdi prescription or initiating combination therapy with Evrysdi to current Spinraza or Zolgenzma prescription |
| Cohort 2 | – | –Current Spinraza or Zolgensma prescription |
| Cohort 3 | – | –Changing from Spinraza or Zolgensma to Evrysdi |
| Cohort 4 | – | –Have never received any SMN-directed therapies |
Who may qualify
- Ages
- 5 to 20 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Those who meet the Eligibility criteria and consent to enrollment on the study.
Key inclusion criteria (19 listed)
- Genetic confirmation of SMA with homozygous deletion of SMN1 or compound heterozygous deletion/mutation of SMN1
- Two, three, or four copies of SMN2
- Age 5 to 20 years
- Non-ambulatory participants: maximum function sitting or standing with support, HFMSE score at screening between 10 and 45 points.
- Ambulatory participants: minimum function of independent walking, able to walk unassisted a minimum of 100 meters at screening, HFMSE score at screening between 40 and 66.
Key exclusion criteria (6 listed)
- Any chronic medical condition, planned surgery, or treatment with a medication which would impact safety or participation of the study at the investigator's discretion
- Inability to perform reliably the motor function testing or the exercise testing in the MR scanner.
- Fat fraction > 35% in calf or bicep at screening MRI
- Need for routine non-invasive ventilation support.
- Non-oral nutritional support, e.g., gastrostomy tube feeding.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Feasibility of performing MR functional imaging in SMA patients
Time frame: At baseline and at 6 months (+/- 14 days)
MR functional imaging is considered feasible if ≥ 80% of MRI protocol eligible patients can complete 100% of imaging assessments at baseline and 6 months.
Reliability of performing MR functional imaging in SMA patients
Time frame: At baseline and at 6 months (+/- 14 days)
MR functional imaging is considered reliable if the test-retest reliability is ≥ 0.80 for key imaging biomarkers.
Compare skeletal muscle oxidative phosphorylation bioenergetics in patients with SMA types 2 and 3 (phosphocreatine)
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Real-time 31P MR spectroscopy and CrCEST MRI will be used to measure phosphocreatine within the muscles at rest, during an exercise protocol, and during post-exercise recovery to baseline. Both measure the recovery time in seconds.
Compare skeletal muscle oxidative phosphorylation bioenergetics in patients with SMA types 2 and 3 (creatine concentrations)
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Real-time 31P MR spectroscopy and CrCEST MRI will be used to measure creatine concentrations within the muscles at rest, during an exercise protocol, and during post-exercise recovery to baseline. Both measure the recovery time in seconds.
Measure intramuscular fat fraction in major muscle extremity in patients with SMA types 2 and 3
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Measurement of thickness of muscle compared to fat on MRI, measured in percentage.
Measure electrophysiological tests of motor neuron function to repetitive nerve stimulation in patients with SMA types 2 and 3
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Electrophysiological testing: Compound motor action potential (CMAP, measured in millivolts), motor unit number estimate (MUNE, average 200-400 for most limb muscles), and repetitive stimulation at 3 Hz - right ulnar to abductor digiti minimus and right fibular/peroneal nerve to tibialis anterior muscle. A decrease of more than 40% in the amplitude of CMAP is considered abnormal.
19 secondary outcomes
Identify changes in motor function in non-ambulant patients and ambulant patients with SMA types 2 and 3
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in non-ambulant patients with SMA types 2 and 3 - Revised Upper Limb Module
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in non-ambulant patients with SMA types 2 and 3 - Block and Box Test
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in ambulant patients with SMA types 2 and 3 - 6-Minute Walk
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in ambulant patients with SMA types 2 and 3 - 10 Meter Walk/Run
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in ambulant patients with SMA types 2 and 3 - 4-Stair Climb
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in ambulant patients with SMA types 2 and 3 - Supine-to-Stand Test
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Identify changes in motor function in ambulant patients with SMA types 2 and 3 - Timed Up-and-Go Test
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Assess myometry, or measurement of muscle strength
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Muscle ultrasound thickness and echogenicity of 5 muscles - 2 upper limb and 3 lower limb
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Plasma neurofilament light (NF-L) and phosphorylated heavy chain (pNF-H) levels
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Blood SMN protein levels
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Pyruvic acid (mg/dL)
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Lactic Acid (millimoles per liter)
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Lactate dehydrogenase (LDH) (units per liter (U/L)
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Trough risdiplam drug levels
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
Quality of life (QOL) and disability information - Pediatric Quality of Life Inventory (PedsQL)
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
QOL and disability information - Pediatric Outcomes Data Collection Instrument (PODCI)
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
QOL and disability information - SMA Health Index (SMA-HI)
Time frame: At baseline and longitudinally at 6 (+/- 14 days) and 12 months (+/- 14 days)
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 9 Jul 2026.
- Description St. Jude Children's Research HospitalLink provided by the sponsor.
- Clinical Trials Open at St. JudeLink provided by the sponsor.
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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.
Richard Finkel, MD principal investigator
St. Jude Children's Research Hospital
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 St. Jude Children's Research Hospital 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 19 inclusion and 6 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 9 Jul 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 Jean Laboe, RN (901-595-1693, referralinfo@stjude.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Feasibility of performing MR functional imaging in SMA patients (time frame: At baseline and at 6 months (+/- 14 days)). The study lists 6 primary outcomes in all. 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 9 Jul 2026.