Spinal Muscular Atrophy Type 3NCT02895789
Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
An observational study of Spinal Muscular Atrophy Type 3 and Mitochondrial Myopathy, run by Columbia University at 1 site in United States.
Trial summary
This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial function in ambulatory spinal muscular atrophy (SMA) patients and disease controls. Read more about this study
- Who is it for?
- Ages 8 to 55 yearsHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy Type 3, Mitochondrial Myopathy
- How many people
- 42 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 2016to Jan 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
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 8 to 55 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: The study sample will include 14 ambulatory SMA patients, 14 ambulatory mitochondrial myopathy patients, and 14 healthy controls.
Who may be able to join
- One of the following categories:
- Genetic confirmation of SMA with laboratory documentation of homozygous deletion of SMN1 exon 7;
- Genetic confirmation of mitochondrial myopathy or evidence from muscle biopsy confirming the diagnosis; or
- Healthy individuals.
- Able to walk independently at least 25 meters, and able to tread a stationary cycle ergometer.
Who cannot join
- Unable to walk 25 meters independently.
- Use of investigational medications intended for the treatment of SMA within 30 days prior to study entry.
- The presence of any contraindication to exercise according the ACSM criteria.
- Patients with and without Spinraza treatment are eligible.
Trial locations and contacts
1 site in 1 country.
United States1 site
Columbia University Medical Center
New York, New York, 10032
About this study
Official title: Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA)
This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial function in ambulatory spinal muscular atrophy (SMA) patients and disease controls. It is a 6-month observational study including 14 ambulatory SMA patients, 14 ambulatory patients with mitochondrial myopathy, and 14 healthy controls.
Read the detailed description
Spinal Muscular Atrophy (SMA) is a progressive, recessively-inherited neuromuscular disease characterized by weakness and muscle atrophy due to the loss of spinal cord motor neurons. The results from this study would provide preliminary data, using non-invasive methods, on oxidative capacity in ambulatory SMA patients and disease controls to aid in the design of exercise intervention studies. Furthermore, this information would link previous laboratory and preclinical findings of mitochondrial depletion in SMA to the clinical condition and provide important information for future studies designed to improve oxidative capacity and fitness in SMA patients.
- Keywords
- spinal muscular atrophy, oxidative capacity, exercise tolerance, mitochondrial myopathy, SMA, six minute walk test, neuromuscular disease, ambulation, exercise, mitochondria, cycle ergometry, near infrared spectroscopy
- Medical subject headings
- Spinal Muscular Atrophies of Childhood, Mitochondrial Myopathies, Muscular Atrophy, Spinal, Neuromuscular Diseases, Motor Activity
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 |
|---|---|---|
| spinal muscular atrophy | ambulatory children and adults ages between 8 and 55 years old by the time of enrollment with laboratory documentation of homozygous deletion of SMN1 exon 7 | |
| mitochondrial myopathy | ambulatory children and adults ages between 8 and 55 years old by the time of enrollment with genetic confirmation or evidence from muscle biopsy confirming the diagnosis | |
| control | The healthy control group will be age and gender-matched to the SMA and mitochondrial myopathy groups as best as possible. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in NIRS derived index of muscle oxygen extraction
Near Infrared Spectroscopy (NIRS) is a simple, non-invasive method to measure oxygen in muscle and other tissues in vivo.
Measured: baseline, 6 months
Secondary outcomes (3)
Change in Peak oxygen uptake (V02 max)
Participants will undergo an exercise stress test performed by a clinical exercise physiologist using an electronically-braked recumbent cycle ergometer to determine peak oxygen uptake (VO2 max).
Measured: baseline, 6 months
Change in Distance walked during the Six Minute Walk Test (6MWT)
6MWT is an objective evaluation of functional exercise capacity, measures the maximum distance a person can walk in six minutes over a 25-meter linear course.
Measured: baseline, 6 months
Change in Lean body mass assessed with Dual Energy X-ray Absorptiometry (DEXA)
Dual-Energy X-ray Absorptiometry (DEXA) is a method of estimating bone and lean body mass by comparing the absorption of two distinct energy level beams at 46.8 keV and 80 keV, which are effective at differentiating soft tissue and bone. A standard DEXA scan will be performed in supine.
Measured: baseline, 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Sep 2016 (estimated)
- Study startNov 2016
- Primary completionOct 2020
- Study completionJan 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular Atrophy Type 3Studies 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
- 42 participants (actual)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Muscular Dystrophy Association
- Responsible party
- Principal investigator, Jacqueline Montes, Columbia University
- Investigators
- Jacqueline Montes, PT, EdD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02895789
- Sponsor's protocol ID
- AAAQ9447
- Other IDs
- 1K01HD084690-01A1
- Status last verified
- Mar 2022
- First submitted
- 31 Aug 2016
- Last updated
- 8 Mar 2022
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 8 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA)
- ClinicalTrials.gov ID
- NCT02895789
- Acronym / sponsor ID
- AAAQ9447
- Keywords
- spinal muscular atrophy, oxidative capacity, exercise tolerance, mitochondrial myopathy, SMA, six minute walk test, neuromuscular disease, ambulation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 42 participants (actual)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Muscular Dystrophy Association
- Study start
- Nov 2016 (actual)
- Primary completion
- Oct 2020 (actual)
- Study completion
- Jan 2021 (actual)
- First posted
- 12 Sep 2016 (estimated)
- 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.
This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial function in ambulatory spinal muscular atrophy (SMA) patients and disease controls. It is a 6-month observational study including 14 ambulatory SMA patients, 14 ambulatory patients with mitochondrial myopathy, and 14 healthy controls.
Detailed description
Spinal Muscular Atrophy (SMA) is a progressive, recessively-inherited neuromuscular disease characterized by weakness and muscle atrophy due to the loss of spinal cord motor neurons. The results from this study would provide preliminary data, using non-invasive methods, on oxidative capacity in ambulatory SMA patients and disease controls to aid in the design of exercise intervention studies. Furthermore, this information would link previous laboratory and preclinical findings of mitochondrial depletion in SMA to the clinical condition and provide important information for future studies designed to improve oxidative capacity and fitness in SMA patients.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| spinal muscular atrophy | – | –ambulatory children and adults ages between 8 and 55 years old by the time of enrollment with laboratory documentation of homozygous deletion of SMN1 exon 7 |
| mitochondrial myopathy | – | –ambulatory children and adults ages between 8 and 55 years old by the time of enrollment with genetic confirmation or evidence from muscle biopsy confirming the diagnosis |
| control | – | –The healthy control group will be age and gender-matched to the SMA and mitochondrial myopathy groups as best as possible. |
Who may qualify
- Ages
- 8 to 55 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- The study sample will include 14 ambulatory SMA patients, 14 ambulatory mitochondrial myopathy patients, and 14 healthy controls.
Key inclusion criteria (5 listed)
- One of the following categories:
- Able to walk independently at least 25 meters, and able to tread a stationary cycle ergometer.
Key exclusion criteria (4 listed)
- Unable to walk 25 meters independently.
- Use of investigational medications intended for the treatment of SMA within 30 days prior to study entry.
- The presence of any contraindication to exercise according the ACSM criteria.
- Patients with and without Spinraza treatment are eligible.
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
Change in NIRS derived index of muscle oxygen extraction
Time frame: baseline, 6 months
Near Infrared Spectroscopy (NIRS) is a simple, non-invasive method to measure oxygen in muscle and other tissues in vivo.
3 secondary outcomes
Change in Peak oxygen uptake (V02 max)
Time frame: baseline, 6 months
Change in Distance walked during the Six Minute Walk Test (6MWT)
Time frame: baseline, 6 months
Change in Lean body mass assessed with Dual Energy X-ray Absorptiometry (DEXA)
Time frame: baseline, 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Mar 2022.
- 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. This study is not recruiting at the moment.
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 Type 3 and Mitochondrial Myopathy, 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 5 inclusion and 4 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: finished, as of the sponsor's last update on 8 Mar 2022. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in NIRS derived index of muscle oxygen extraction (time frame: baseline, 6 months). 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 8 Mar 2022.