Spinal Muscular AtrophyNCT06178393
Real-World Use of Novel Treatments in Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Chart Review of Pediatric SMA Patients Outside of the United States
An observational study of Spinal Muscular Atrophy, run by Novartis Pharmaceuticals at 1 site in United States.
Trial summary
This global, retrospective, non-interventional, medical chart review (MCR), descriptive study collected patient-level data in regions outside the US. The study required a repeated data collection at follow-up dates from start of treatment with nusinersen, onasemnogene abeparvovec-xioi (OA), and/or risdiplam. Read more about this study
- Who is it for?
- Ages Up to 5 years
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 162 participants
- Where
- 1 siteUnited States
- Study dates
- 5 May 2022to 30 Dec 2022
- 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 Up to 5 years
- All sexes
- No healthy volunteers
- Child
Study population: This was a retrospective, noninterventional cohort study.
Who may be able to join
- Genetically confirmed diagnosis of SMA.
- Aged less than 5 years at index date.
- Initiated treatment with nusinersen or onasemnogene abeparvovec-xioi or risdiplam or any combination of them during the identification period.
- Availability of medical information in chart for at least 1 visit prior to initiation of treatment with the target treatment(s).
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
About this study
This global, retrospective, non-interventional, medical chart review (MCR), descriptive study collected patient-level data in regions outside the US.
The study required a repeated data collection at follow-up dates from start of treatment with nusinersen, onasemnogene abeparvovec-xioi (OA), and/or risdiplam. At the start of data collection, the study team reached out to the health care providers (HCPs) involved in treating pediatric SMA patients for participating in this study. The physicians across the participating countries conducted a retrospective MCR of pediatric patients diagnosed with SMA who were treated with at least 1of the 3 novel disease-modifying treatments (DMTs): nusinersen, OA, and/or risdiplam.
All health care encounters data i.e., emergency and inpatient admissions, surgery, and outpatient consultations of recruited patients, including their treatment with nusinersen, OA, and/or risdiplam, were abstracted to understand the treatment patterns as per routine clinical practice for SMA management globally. The first date of initial administration of 1 of the 3 target drugs was used as the "index date." Based on this, the record abstraction was performed through a retrospective MCR during the pre-index period, at index date and in the post-index period.
- Conditions
- Spinal Muscular Atrophy
- 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 |
|---|---|---|
| OA monotherapy | Not described | |
| Nusinersen monotherapy | Not described | |
| Other DMTs switched to OA | Not described | |
| OA add-on other DMTs | Not described | |
| Combination, other DMTs with OA | Not described | |
| Other treatment sequence | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number and proportion of male patients
Measured: Baseline
Number and proportion of female patients
Measured: Baseline
Number and proportion of patients per race
Measured: Baseline
Number and proportion of patients per insurance type
Measured: Baseline
Number and proportion of patients per gestational age category at birth
Measured: Baseline
Number and proportion of patients per country
Measured: Baseline
Number and proportion of patients with prenatal screening performed and confirmed for SMA
Measured: Baseline
Number and proportion of patients undergoing newborn screening for SMA
Measured: Baseline
Number and proportion of patients experiencing SMA-related symptoms prior to initiation of the first DMT (index drug)
Measured: Baseline
Mean age at onset of SMA-related symptoms experienced prior to initiation of the first DMT
Measured: Baseline
Mean age at SMA genetic diagnosis
Measured: Baseline
Number and proportion of patients who had as survival of motor neuron 1 (SMN1) genetic test
Measured: Baseline
Number and proportion of patients per SMN1 genetic test result category
Measured: Baseline
Number and proportion of patients who had a survival of motor neuron 2 (SMN2) genetic test
Measured: Baseline
Number and proportion of patients per SMN2 gene copy number
Measured: Baseline
Number and proportion of patients per SMA type at diagnosis
Measured: Baseline
Mean body weight
Measured: Baseline
Secondary outcomes (88)
Time to first improvement from last pre-index/pre-switch assessment
Measured: Up to approximately 5 years
Time from pre-index/last pre- switch until the last follow-up visit with available data for the overall developmental motor milestones rates
Measured: Up to approximately 5 years
Number and proportion of patients who achieved at least once ≥ 1 point increase on the Hammersmith infant neurological examination: Section 2 (HINE-2, motor milestones)
The HINE-2 assesses motor milestones and includes 8 categories: voluntary grasp, ability to kick in supine position, head control, rolling, sitting, crawling, standing, and walking. Overall scores can range from 0 to 26. Higher scores indicate higher levels of motor ability.
Measured: Up to approximately 5 years
Number and proportion of patients who achieved at least once ≥ 3 points increase on the Hammersmith Functional Motor Scale-Expanded (HFMSE)
The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability.
Measured: Up to approximately 5 years
Number and proportion of patients who achieved at least once ≥ 3 points decrease on the HFMSE
The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability.
Measured: Up to approximately 5 years
Number and proportion of patients who maintained score change ±3 points on the HFMSE
The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability.
Measured: Up to approximately 5 years
Change in score per month on the HFMSE
The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability.
Measured: Baseline up to approximately 5 years
Estimate of HFMSE score per timepoint during the post period, adjusted for the last pre-value
The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability.
Measured: Up to approximately 15 years
Number and proportion of patients who achieved at least once ≥ 1 point increase on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
CHOP INTEND scores can range from 0 to 64, where 64 is the maximum possible score. A higher score indicates higher/better motor function.
Measured: Up to approximately 5 years
Number and proportion of patients who achieved at least once ≥4 points increase on the CHOP INTEND
CHOP INTEND scores can range from 0 to 64, where 64 is the maximum possible score. A higher score indicates higher/better motor function.
Measured: Up to approximately 5 years
Change in score per month on the CHOP INTEND
CHOP INTEND scores can range from 0 to 64, where 64 is the maximum possible score. A higher score indicates higher/better motor function.
Measured: Baseline up to approximately 5 years
Estimate of score per timepoint during the post period, adjusted for the last pre-value on the CHOP INTEND
CHOP INTEND scores can range from 0 to 64, where 64 is the maximum possible score. A higher score indicates higher/better motor function.
Measured: Up to approximately 15 years
Number and proportion of patients without any craniofacial deficits during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who exhibited at least 1 craniofacial deficit during the post-index period including reduced mouth opening, overbite, narrow/high arched palate, and other craniofacial deficits
Measured: Up to approximately 15 years
Number and proportion of patients who remained free of any non-oral support during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who did not remain free of any non-oral support during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who exhibited constipation at least once during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who exhibited failure to thrive or underweight at least once during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients per the Pediatric-Functional Oral Intake Scale (p-FOIS) score at the timepoints of interest
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who had improvement (the p-FOIS score increased by at least 1 point between the timepoints of interest)
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who had decline (the p-FOIS score decreased by at least 1 point between the timepoints of interest)
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (the p-FOIS score maintained stable between the timepoints of interest)
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with unknown status (unknown/missing p-FOIS score in any of the timepoints of interest)
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with p-FOIS <3 at the timepoints of interest in the functional swallow category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with p-FOIS ≥ 3 at the timepoints of interest in the functional swallow category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who achieved (patients who went from the p-FOIS < 3 to the p-FOIS ≥ 3 category between the timepoints of interest) in the functional swallow category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who lost (patients who went from the p-FOIS ≥ 3 to p-FOIS <3 category between the timepoints of interest) in the functional swallow category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who remained at p-FOIS <3 category between the timepoints of interest) in the functional swallow category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who remained at p-FOIS ≥ 3 category between the timepoints of interest) in the functional swallow category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with unknown (unknown/missing p-FOIS score in any of the timepoints of interest) in the functional swallow category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with p-FOIS <4 at the timepoints of interest in the total oral nutrition category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with p-FOIS ≥ 4 at the timepoints of interest in the total oral nutrition category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who achieved (patients who went from the p-FOIS <4 to p-FOIS ≥ 4 category between the timepoints of interest) in the total oral nutrition category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who lost (patients who went from the p-FOIS ≥ 4 to p-FOIS <4 category between the timepoints of interest) in the total oral nutrition category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who remained at p-FOIS< 4 category between the timepoints of interest) in the total oral nutrition category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who remained at p-FOIS≥ 4 category between the timepoints of interest) in the total oral nutrition category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with unknown status (unknown/missing p-FOIS score in any of the timepoints of interest) in the total oral nutrition category
The p-FOIS score has a range of 1 (nothing taken orally) to 6 (age-appropriate oral intake).
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients without any swallow evaluation during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients with at least 1 swallow evaluation during the post index period including the type of swallow evaluation
Measured: Up to approximately 15 years
Number and proportion of patients with at least 1 symptom of interest related to eating during the post-index period
Symptoms of interest were coughing/choking with liquids; coughing/choking with solids; prolonged feeding times; fatigue with eating; swallowing or feeding difficulties; difficulty chewing; and wet/gurgles after eating.
Measured: Up to approximately 15 years
Number and proportion of patients without any sign of aspiration during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients with at least 1 aspiration sign during the post-index period for each of the following consistencies: thin liquids; nectar liquids (mildly thick); honey liquids (moderately thick); puree; solid
Measured: Up to approximately 15 years
Number and proportion of patients without any deficits in swallowing during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who exhibited nasal regurgitation at least once during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who exhibited no swallow initiation at least once during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who exhibited pharyngeal residue at least once during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who exhibited aspiration at least once during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who suffered penetration at least once during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who were able to drink thin liquids during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who were able to drink thin nectar during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who were able to drink nectar during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who were able to drink honey during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who reported at least once the following deficits relating to the patients cry/voice during the post-index period: not audible; quiet/weak/hard to hear; wet/gurgly; breathy; unknown/not reported
Measured: Up to approximately 15 years
Number and proportion of patients who did not experience fatigue with speech over the course of the day during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who experienced at least once fatigue with speech over the course of the day during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who experienced at least once clinical signs of aspiration during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who experienced at least once problem in chewing during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who experienced at least once aversion/disinterest in eating or drinking
Measured: Up to approximately 15 years
Number and proportion of patients who experienced at least once a concern for insufficient oral nutrient ingestion
Measured: Up to approximately 15 years
Number and proportion of patients per category of maximum speech milestone achieved during the post-index period.
Measured: Up to approximately 15 years
Number and proportion of patients who experienced clinical signs of aspiration at the timepoints of interest
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with improvement (patients who had clinical signs of aspiration at the first timepoint of interest and lost it at the next timepoint of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with decline (patients who didn't have any clinical signs of aspiration at the first timepoint of interest and gained it at the next timepoint of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients without clinical signs of aspiration at both timepoints of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients with clinical signs of aspiration at both timepoints of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with unknown status (patients with unknown/missing clinical signs of aspiration in any of the timepoints of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who experienced fatigue with eating at the timepoints of interest
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with improvement (patients who experienced fatigue with eating at the first timepoint of interest and did not experience it at the next timepoint of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with decline (patients who didn't experience fatigue with eating at the first timepoint of interest and experienced it at the next timepoint of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who didn't experience fatigue with eating at both timepoints of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who experienced fatigue with eating at both timepoints of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with unknown status (patients with unknown/missing experience of fatigue with eating in any of the timepoints of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients per each category of maximum speech milestone achieved at the timepoints of interest
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with improvement (patients who had cooing as a maximum speech milestone at the first timepoint of interest and achieved at least 1 more speech milestone at the next timepoint of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with decline in speech milestones
Decline was defined as patients who had consonant and vowel combination; babbling word(s); combining 2 words together; speech understood by family members; or speech understood by unfamiliar listeners as a maximum speech milestone at the first timepoint of interest and cooing at the next timepoint of interest.
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who remained at cooing between the timepoints of interest or patients who remained at 'consonant and vowel combination' or above between the timepoints of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with unknown status (patients with unknown/missing maximum speech milestone in any of the timepoints of interest)
Measured: Baseline, 3, 6, and 12 months
Number and proportion of patients with normal pulmonary evaluation during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients with at least 1 abnormal pulmonary evaluation during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who experienced at least once chest abnormality symptoms during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who experienced at least once pneumonia or respiratory illness during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who experienced at least once paradoxical breathing symptoms during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who used sitting and mobility support devices during the post-index period
Measured: Up to approximately 15 years
Number and proportion of patients who used at least once the following sitting and mobility support devices during the post-index period: standing frame; positioning device; adaptive seating system; gait trainer; walker; wheelchair; scooter; other
Measured: Up to approximately 15 years
Time from index date to the first initial improvement in motor function
Measured: Up to approximately 15 years
Number and proportion of patients who had overall improvement at the end of post-index period as per physicians' assessment for general impression, motor function, respiratory function, and swallow function
Measured: Up to approximately 15 years
Number and proportion of patients per survival status
Measured: Up to approximately 15 years
Number and proportion of patients per cause of death
Measured: Up to approximately 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Dec 2023
- Study start5 May 2022
- Primary completion30 Dec 2022
- Study completion30 Dec 2022
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 Novartis PharmaceuticalsThe 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
- Retrospective
- Enrolment
- 162 participants (actual)
Sponsor and investigators
- Lead sponsor
- Novartis Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Novartis Pharmaceuticals, Study director, Novartis Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06178393
- Sponsor's protocol ID
- COAV101A12402
- Status last verified
- Dec 2023
- First submitted
- 11 Dec 2023
- Last updated
- 21 Dec 2023
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Dec 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Real-World Use of Novel Treatments in Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Chart Review of Pediatric SMA Patients Outside of the United States
- ClinicalTrials.gov ID
- NCT06178393
- Acronym / sponsor ID
- COAV101A12402
- Conditions
- Spinal Muscular Atrophy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 162 participants (actual)
- Lead sponsor
- Novartis PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- 5 May 2022 (actual)
- Primary completion
- 30 Dec 2022 (actual)
- Study completion
- 30 Dec 2022 (actual)
- First posted
- 21 Dec 2023 (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.
This global, retrospective, non-interventional, medical chart review (MCR), descriptive study collected patient-level data in regions outside the US.
The study required a repeated data collection at follow-up dates from start of treatment with nusinersen, onasemnogene abeparvovec-xioi (OA), and/or risdiplam. At the start of data collection, the study team reached out to the health care providers (HCPs) involved in treating pediatric SMA patients for participating in this study. The physicians across the participating countries conducted a retrospective MCR of pediatric patients diagnosed with SMA who were treated with at least 1of the 3 novel disease-modifying treatments (DMTs): nusinersen, OA, and/or risdiplam.
All health care encounters data i.e., emergency and inpatient admissions, surgery, and outpatient consultations of recruited patients, including their treatment with nusinersen, OA, and/or risdiplam, were abstracted to understand the treatment patterns as per routine clinical practice for SMA management globally. The first date of initial administration of 1 of the 3 target drugs was used as the "index date." Based on this, the record abstraction was performed through a retrospective MCR during the pre-index period, at index date and in the post-index period.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| OA monotherapy | – | – |
| Nusinersen monotherapy | – | – |
| Other DMTs switched to OA | – | – |
| OA add-on other DMTs | – | – |
| Combination, other DMTs with OA | – | – |
| Other treatment sequence | – | – |
Who may qualify
- Ages
- Up to 5 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- This was a retrospective, noninterventional cohort study.
Key inclusion criteria (4 listed)
- Genetically confirmed diagnosis of SMA.
- Aged less than 5 years at index date.
- Initiated treatment with nusinersen or onasemnogene abeparvovec-xioi or risdiplam or any combination of them during the identification period.
- Availability of medical information in chart for at least 1 visit prior to initiation of treatment with the target treatment(s).
Key exclusion criteria (1 listed)
- None
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
Number and proportion of male patients
Time frame: Baseline
Number and proportion of female patients
Time frame: Baseline
Number and proportion of patients per race
Time frame: Baseline
Number and proportion of patients per insurance type
Time frame: Baseline
Number and proportion of patients per gestational age category at birth
Time frame: Baseline
Number and proportion of patients per country
Time frame: Baseline
Number and proportion of patients with prenatal screening performed and confirmed for SMA
Time frame: Baseline
Number and proportion of patients undergoing newborn screening for SMA
Time frame: Baseline
Number and proportion of patients experiencing SMA-related symptoms prior to initiation of the first DMT (index drug)
Time frame: Baseline
Mean age at onset of SMA-related symptoms experienced prior to initiation of the first DMT
Time frame: Baseline
Mean age at SMA genetic diagnosis
Time frame: Baseline
Number and proportion of patients who had as survival of motor neuron 1 (SMN1) genetic test
Time frame: Baseline
Number and proportion of patients per SMN1 genetic test result category
Time frame: Baseline
Number and proportion of patients who had a survival of motor neuron 2 (SMN2) genetic test
Time frame: Baseline
Number and proportion of patients per SMN2 gene copy number
Time frame: Baseline
Number and proportion of patients per SMA type at diagnosis
Time frame: Baseline
Mean body weight
Time frame: Baseline
88 secondary outcomes
Time to first improvement from last pre-index/pre-switch assessment
Time frame: Up to approximately 5 years
Time from pre-index/last pre- switch until the last follow-up visit with available data for the overall developmental motor milestones rates
Time frame: Up to approximately 5 years
Number and proportion of patients who achieved at least once ≥ 1 point increase on the Hammersmith infant neurological examination: Section 2 (HINE-2, motor milestones)
Time frame: Up to approximately 5 years
Number and proportion of patients who achieved at least once ≥ 3 points increase on the Hammersmith Functional Motor Scale-Expanded (HFMSE)
Time frame: Up to approximately 5 years
Number and proportion of patients who achieved at least once ≥ 3 points decrease on the HFMSE
Time frame: Up to approximately 5 years
Number and proportion of patients who maintained score change ±3 points on the HFMSE
Time frame: Up to approximately 5 years
Change in score per month on the HFMSE
Time frame: Baseline up to approximately 5 years
Estimate of HFMSE score per timepoint during the post period, adjusted for the last pre-value
Time frame: Up to approximately 15 years
Number and proportion of patients who achieved at least once ≥ 1 point increase on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
Time frame: Up to approximately 5 years
Number and proportion of patients who achieved at least once ≥4 points increase on the CHOP INTEND
Time frame: Up to approximately 5 years
Change in score per month on the CHOP INTEND
Time frame: Baseline up to approximately 5 years
Estimate of score per timepoint during the post period, adjusted for the last pre-value on the CHOP INTEND
Time frame: Up to approximately 15 years
Number and proportion of patients without any craniofacial deficits during the post-index period
Time frame: Up to approximately 15 years
Number and proportion of patients who exhibited at least 1 craniofacial deficit during the post-index period including reduced mouth opening, overbite, narrow/high arched palate, and other craniofacial deficits
Time frame: Up to approximately 15 years
Number and proportion of patients who remained free of any non-oral support during the post-index period
Time frame: Up to approximately 15 years
Number and proportion of patients who did not remain free of any non-oral support during the post-index period
Time frame: Up to approximately 15 years
Number and proportion of patients who exhibited constipation at least once during the post-index period
Time frame: Up to approximately 15 years
Number and proportion of patients who exhibited failure to thrive or underweight at least once during the post-index period
Time frame: Up to approximately 15 years
Number and proportion of patients per the Pediatric-Functional Oral Intake Scale (p-FOIS) score at the timepoints of interest
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who had improvement (the p-FOIS score increased by at least 1 point between the timepoints of interest)
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who had decline (the p-FOIS score decreased by at least 1 point between the timepoints of interest)
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (the p-FOIS score maintained stable between the timepoints of interest)
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients with unknown status (unknown/missing p-FOIS score in any of the timepoints of interest)
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients with p-FOIS <3 at the timepoints of interest in the functional swallow category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients with p-FOIS ≥ 3 at the timepoints of interest in the functional swallow category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who achieved (patients who went from the p-FOIS < 3 to the p-FOIS ≥ 3 category between the timepoints of interest) in the functional swallow category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who lost (patients who went from the p-FOIS ≥ 3 to p-FOIS <3 category between the timepoints of interest) in the functional swallow category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who remained at p-FOIS <3 category between the timepoints of interest) in the functional swallow category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who remained at p-FOIS ≥ 3 category between the timepoints of interest) in the functional swallow category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients with unknown (unknown/missing p-FOIS score in any of the timepoints of interest) in the functional swallow category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients with p-FOIS <4 at the timepoints of interest in the total oral nutrition category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients with p-FOIS ≥ 4 at the timepoints of interest in the total oral nutrition category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who achieved (patients who went from the p-FOIS <4 to p-FOIS ≥ 4 category between the timepoints of interest) in the total oral nutrition category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who lost (patients who went from the p-FOIS ≥ 4 to p-FOIS <4 category between the timepoints of interest) in the total oral nutrition category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who remained at p-FOIS< 4 category between the timepoints of interest) in the total oral nutrition category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients who maintained status (patients who remained at p-FOIS≥ 4 category between the timepoints of interest) in the total oral nutrition category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients with unknown status (unknown/missing p-FOIS score in any of the timepoints of interest) in the total oral nutrition category
Time frame: Baseline, 3, 6, and 12 months
Number and proportion of patients without any swallow evaluation during the post-index period
Time frame: Up to approximately 15 years
Number and proportion of patients with at least 1 swallow evaluation during the post index period including the type of swallow evaluation
Time frame: Up to approximately 15 years
Number and proportion of patients with at least 1 symptom of interest related to eating during the post-index period
Time frame: Up to approximately 15 years
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 21 Dec 2023.
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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.
Novartis Pharmaceuticals study director
Novartis Pharmaceuticals
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 Novartis Pharmaceuticals 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 4 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: finished, as of the sponsor's last update on 21 Dec 2023. 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?
Number and proportion of male patients (time frame: Baseline). The study lists 17 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 21 Dec 2023.