Muscular Atrophy, SpinalNCT07474311
A Real-World Study of Clinical Use of Available Treatments for Pediatric Patients With Spinal Muscular Atrophy
An observational study of Muscular Atrophy, Spinal, run by Novartis Pharmaceuticals at 1 site in Czechia.
Trial summary
The aim of this study was to evaluate real-world treatment patterns and clinical outcomes in pediatric SMA patients in the Czech and Slovak Republics, using data from the Registry of muscular Dystrophy (REaDY). Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Muscular Atrophy, Spinal
- How many people
- 213 participants
- Where
- 1 siteCzechia
- Study dates
- 22 Nov 2011to 13 Mar 2025
- 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 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Pediatric patients enrolled in the REaDY registry by 13 March 2025.
Who may be able to join
- Patients ≤18 years of age on the index date.
- Patients with genetically confirmed SMA.
- Patients with a known examination on the index date.
- Patients with a signed informed consent from their legal representative.
Who cannot join
- None.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Real-World Evidence of Clinical Use of Available Treatments for Pediatric Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Analysis Based on REaDY Registry
The aim of this study was to evaluate real-world treatment patterns and clinical outcomes in pediatric SMA patients in the Czech and Slovak Republics, using data from the Registry of muscular Dystrophy (REaDY).
- Conditions
- Muscular Atrophy, Spinal
- Keywords
- Spinal Muscular Atrophy, Real-World Evidence, Retrospective Study, Patient Registry, Disease-Modifying Therapy
- 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 |
|---|---|---|
| Czech Cohort A | Pediatric SMA patients from Czech sites who received at least one disease modifying therapy (DMT). Patients were further categorized into treatment groups and by SMA type and birth date. | |
| Czech Cohort B | Pediatric SMA patients from Czech sites who did not receive a DMT. | |
| Slovak Cohort A | Pediatric SMA patients from Slovak sites who received at least one DMT. Patients were further categorized into treatment groups and by SMA type and birth date. | |
| Slovak Cohort B | Pediatric SMA patients from Slovak sites who did not receive a DMT. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Patients by Demographic Category
Demographics included:
- Sex
- SMA classification (presymptomatic, SMA I, II, III)
- Screening (family, newborn, prenatal, no)
- Mutation in gene (Non5q SMA, SMN1)
- Number of copies of SMN2 gene
Measured: Baseline
Age at Diagnosis
Measured: Baseline
Age at Symptom Onset
Measured: Baseline
Weight
Measured: Baseline
Number of Patients by Medical Examination Result
Medical examination result (yes/no) included:
- Skin without affection
- Throat calm
- Respiration normal
- Soft abdomen without resistance
- Without swelling
- Contractures present
Measured: Baseline
Blood Pressure
Systolic and diastolic blood pressure.
Measured: Baseline
Pulse
Heart beats per minute.
Measured: Baseline
Respiratory Rate
Breathes per minute.
Measured: Baseline
Number of Patients by Motor Function
Motor function (yes/no) included:
- Head control
- Rolling to the side
- Sitting without support
- Hands and knees crawling
- Standing alone
- Walking alone
- Able to climb stairs
- Wheelchair use
- Function of hands
Measured: Baseline
Number of Patients by Feeding and Pulmonary Function
Feeding and pulmonary function included:
- Feeding function (normal, nasogastric tube, percutaneous gastrostomy [PEG])
- Ventilation (invasive, non-invasive, full-time, part-time)
- Assistance in airway clearance and secretion mobilization (yes/no)
- Forced Vital Capacity (FVC) done (yes/no)
Measured: Baseline
FVC
FVC is the volume of air that can forcibly be blown out after full inspiration.
Measured: Baseline
Number of Patients With a Physiotherapeutic Evaluation
Measured: Baseline
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-Intend) Score
CHOP-Intend is a tool used to measure the motor abilities in infants with SMA. It consists of 16 items scored on a scale from 0 (no response/unable to perform the movement) to 4 (complete response/able to perform the task). CHOP-Intend total score ranges from 0 to 64 with higher scores indicating higher motor function.
Measured: Baseline
Hammersmith Functional Motor Scale Expanded (HFMSE) Score
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
Revised Upper Limb Module (RULM) Score
RULM is a tool used to assess upper limb function in SMA patients. It consists of 20 items in total. The first entry item classifies overall functional ability and is not scored. The remaining 19 tasks are scored with 1 task scored as can/cannot (1 is the highest score) and 18 tasks rated on a 3-point scale as follows:
- 0 - unable to perform the task
- 1 - able to perform the task with some modification
- 2 - able to perform the task with no difficulty The total RULM score ranges from 0 to 37 with higher scores indicating better upper limb function.
Measured: Baseline
6 Minute Walk Distance (6MWD)
The 6MWD test measures the distance an individual is able to walk over a total of six minutes on a hard, flat surface. The goal is for the individual to walk as far as possible in six minutes.
Measured: Baseline
Number of Patients by Clinician's Rating of Patient's Current Severity of Illness
Based on the clinician's total clinical experience with people with SMA, severity of illness was rated by the clinician as follows:
- 1 - Not at all affected
- 2 - Borderline affected
- 3 - Mildly affected
- 4 - Moderately affected
- 5 - Markedly affected
- 6 - Severely affected
- 7 - Among the most extremely affected individuals
Measured: Baseline
Number of Patients by Change in Condition in the Last 6 Months as Assessed by the Clinician
Change in condition was categorized as follows:
- 2 - Much improved
- 3 - Minimally improved
- 4 - No change
- 5 - Minimally worse
- 6 - Much worse
- 7 - Very much worse
Measured: Baseline
Number of Patients by Total Global Impression According to Patient or Parent
Global impression was categorized as follows:
- Much improved
- Minimally improved
- No change
- Minimally worse
- Much worse
- Very much worse
Measured: Baseline
Secondary outcomes (10)
Change From Baseline in CHOP-Intend Score at Months 6, 12, 24, and 36
CHOP-Intend is a tool used to measure the motor abilities in infants with SMA. It consists of 16 items scored on a scale from 0 (no response/unable to perform the movement) to 4 (complete response/able to perform the task). CHOP-Intend total score ranges from 0 to 64 with higher scores indicating higher motor function.
Measured: Baseline, 6, 12, 24, and 36 months
Change From Baseline in HFMSE Score at Months 6, 12, 24, and 36
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, 6, 12, 24, and 36 months
Change From Baseline in RULM Score at Months 6, 12, 24, and 36
RULM is a tool used to assess upper limb function in SMA patients. It consists of 20 items in total. The first entry item classifies overall functional ability and is not scored. The remaining 19 tasks are scored with 1 task scored as can/cannot (1 is the highest score) and 18 tasks rated on a 3-point scale as follows:
- 0 - unable to perform the task
- 1 - able to perform the task with some modification
- 2 - able to perform the task with no difficulty The total RULM score ranges from 0 to 37 with higher scores indicating better upper limb function.
Measured: Baseline, 6, 12, 24, and 36 months
Change From Baseline in 6MWD at Months 6, 12, 24, and 36
The 6MWD test measures the distance an individual is able to walk over a total of six minutes on a hard, flat surface. The goal is for the individual to walk as far as possible in six minutes.
Measured: Baseline, 6, 12, 24, and 36 months
Change From Baseline in Number of Patients by Feeding and Pulmonary Function at Months 6, 12, 24, and 36
Feeding and pulmonary function included:
- Feeding function (normal, nasogastric tube, PEG)
- Ventilation (invasive, non-invasive, full-time, part-time)
- Assistance in airway clearance and secretion mobilization (yes/no)
- FVC done (yes/no)
Measured: Baseline, 6, 12, 24, and 36 months
Change From Baseline in FVC at Months 6, 12, 24, and 36
FVC is the volume of air that can forcibly be blown out after full inspiration.
Measured: Baseline, 6, 12, 24, and 36 months
Change From Baseline in Number of Patients by Clinician's Rating of Patient's Severity of Illness at Months 6, 12, 24, and 36
Based on the clinician's total clinical experience with people with SMA, severity of illness was rated by the clinician as follows:
- 1 - Not at all affected
- 2 - Borderline affected
- 3 - Mildly affected
- 4 - Moderately affected
- 5 - Markedly affected
- 6 - Severely affected
- 7 - Among the most extremely affected individuals
Measured: Baseline, 6, 12, 24, and 36 months
Change From Baseline in Number of Patients by Change in Condition in the Last 6 Months as Assessed by the Clinician at Months 6, 12, 24, and 36
Change in condition was categorized as follows:
- 2 - Much improved
- 3 - Minimally improved
- 4 - No change
- 5 - Minimally worse
- 6 - Much worse
- 7 - Very much worse
Measured: Baseline, 6, 12, 24, and 36 months
Change From Baseline in Number of Patients by Total Global Impression According to Patient or Parent at Months 6, 12, 24, and 36
Global impression was categorized as follows:
- Much improved
- Minimally improved
- No change
- Minimally worse
- Much worse
- Very much worse
Measured: Baseline, 6, 12, 24, and 36 months
Incidence of SMA
Measured: 6, 12, 24, and 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Mar 2026
- Study start22 Nov 2011
- Primary completion13 Mar 2025
- Study completion13 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Muscular Atrophy, SpinalStudies 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
- 213 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
- NCT07474311
- Sponsor's protocol ID
- COAV101A1CZ01R
- Status last verified
- Mar 2026
- First submitted
- 11 Mar 2026
- Last updated
- 20 Mar 2026
- Results posted
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Real-World Evidence of Clinical Use of Available Treatments for Pediatric Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Analysis Based on REaDY Registry
- ClinicalTrials.gov ID
- NCT07474311
- Acronym / sponsor ID
- COAV101A1CZ01R
- Conditions
- Muscular Atrophy, Spinal
- Keywords
- Spinal Muscular Atrophy, Real-World Evidence, Retrospective Study, Patient Registry, Disease-Modifying Therapy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 213 participants (actual)
- Lead sponsor
- Novartis PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- 22 Nov 2011 (actual)
- Primary completion
- 13 Mar 2025 (actual)
- Study completion
- 13 Mar 2025 (actual)
- First posted
- 16 Mar 2026 (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 aim of this study was to evaluate real-world treatment patterns and clinical outcomes in pediatric SMA patients in the Czech and Slovak Republics, using data from the Registry of muscular Dystrophy (REaDY).
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Czech Cohort A | – | –Pediatric SMA patients from Czech sites who received at least one disease modifying therapy (DMT). Patients were further categorized into treatment groups and by SMA type and birth date. |
| Czech Cohort B | – | –Pediatric SMA patients from Czech sites who did not receive a DMT. |
| Slovak Cohort A | – | –Pediatric SMA patients from Slovak sites who received at least one DMT. Patients were further categorized into treatment groups and by SMA type and birth date. |
| Slovak Cohort B | – | –Pediatric SMA patients from Slovak sites who did not receive a DMT. |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Pediatric patients enrolled in the REaDY registry by 13 March 2025.
Key inclusion criteria (4 listed)
- Patients ≤18 years of age on the index date.
- Patients with genetically confirmed SMA.
- Patients with a known examination on the index date.
- Patients with a signed informed consent from their legal representative.
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 of Patients by Demographic Category
Time frame: Baseline
Demographics included: * Sex * SMA classification (presymptomatic, SMA I, II, III) * Screening (family, newborn, prenatal, no) * Mutation in gene (Non5q SMA, SMN1) * Number of copies of SMN2 gene
Age at Diagnosis
Time frame: Baseline
Age at Symptom Onset
Time frame: Baseline
Weight
Time frame: Baseline
Number of Patients by Medical Examination Result
Time frame: Baseline
Medical examination result (yes/no) included: * Skin without affection * Throat calm * Respiration normal * Soft abdomen without resistance * Without swelling * Contractures present
Blood Pressure
Time frame: Baseline
Systolic and diastolic blood pressure.
Pulse
Time frame: Baseline
Heart beats per minute.
Respiratory Rate
Time frame: Baseline
Breathes per minute.
Number of Patients by Motor Function
Time frame: Baseline
Motor function (yes/no) included: * Head control * Rolling to the side * Sitting without support * Hands and knees crawling * Standing alone * Walking alone * Able to climb stairs * Wheelchair use * Function of hands
Number of Patients by Feeding and Pulmonary Function
Time frame: Baseline
Feeding and pulmonary function included: * Feeding function (normal, nasogastric tube, percutaneous gastrostomy [PEG]) * Ventilation (invasive, non-invasive, full-time, part-time) * Assistance in airway clearance and secretion mobilization (yes/no) * Forced Vital Capacity (FVC) done (yes/no)
FVC
Time frame: Baseline
FVC is the volume of air that can forcibly be blown out after full inspiration.
Number of Patients With a Physiotherapeutic Evaluation
Time frame: Baseline
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-Intend) Score
Time frame: Baseline
CHOP-Intend is a tool used to measure the motor abilities in infants with SMA. It consists of 16 items scored on a scale from 0 (no response/unable to perform the movement) to 4 (complete response/able to perform the task). CHOP-Intend total score ranges from 0 to 64 with higher scores indicating higher motor function.
Hammersmith Functional Motor Scale Expanded (HFMSE) Score
Time frame: Baseline
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.
Revised Upper Limb Module (RULM) Score
Time frame: Baseline
RULM is a tool used to assess upper limb function in SMA patients. It consists of 20 items in total. The first entry item classifies overall functional ability and is not scored. The remaining 19 tasks are scored with 1 task scored as can/cannot (1 is the highest score) and 18 tasks rated on a 3-point scale as follows: * 0 - unable to perform the task * 1 - able to perform the task with some modification * 2 - able to perform the task with no difficulty The total RULM score ranges from 0 to 37 with higher scores indicating better upper limb function.
6 Minute Walk Distance (6MWD)
Time frame: Baseline
The 6MWD test measures the distance an individual is able to walk over a total of six minutes on a hard, flat surface. The goal is for the individual to walk as far as possible in six minutes.
Number of Patients by Clinician's Rating of Patient's Current Severity of Illness
Time frame: Baseline
Based on the clinician's total clinical experience with people with SMA, severity of illness was rated by the clinician as follows: * 1 - Not at all affected * 2 - Borderline affected * 3 - Mildly affected * 4 - Moderately affected * 5 - Markedly affected * 6 - Severely affected * 7 - Among the most extremely affected individuals
Number of Patients by Change in Condition in the Last 6 Months as Assessed by the Clinician
Time frame: Baseline
Change in condition was categorized as follows: * 2 - Much improved * 3 - Minimally improved * 4 - No change * 5 - Minimally worse * 6 - Much worse * 7 - Very much worse
Number of Patients by Total Global Impression According to Patient or Parent
Time frame: Baseline
Global impression was categorized as follows: * Much improved * Minimally improved * No change * Minimally worse * Much worse * Very much worse
10 secondary outcomes
Change From Baseline in CHOP-Intend Score at Months 6, 12, 24, and 36
Time frame: Baseline, 6, 12, 24, and 36 months
Change From Baseline in HFMSE Score at Months 6, 12, 24, and 36
Time frame: Baseline, 6, 12, 24, and 36 months
Change From Baseline in RULM Score at Months 6, 12, 24, and 36
Time frame: Baseline, 6, 12, 24, and 36 months
Change From Baseline in 6MWD at Months 6, 12, 24, and 36
Time frame: Baseline, 6, 12, 24, and 36 months
Change From Baseline in Number of Patients by Feeding and Pulmonary Function at Months 6, 12, 24, and 36
Time frame: Baseline, 6, 12, 24, and 36 months
Change From Baseline in FVC at Months 6, 12, 24, and 36
Time frame: Baseline, 6, 12, 24, and 36 months
Change From Baseline in Number of Patients by Clinician's Rating of Patient's Severity of Illness at Months 6, 12, 24, and 36
Time frame: Baseline, 6, 12, 24, and 36 months
Change From Baseline in Number of Patients by Change in Condition in the Last 6 Months as Assessed by the Clinician at Months 6, 12, 24, and 36
Time frame: Baseline, 6, 12, 24, and 36 months
Change From Baseline in Number of Patients by Total Global Impression According to Patient or Parent at Months 6, 12, 24, and 36
Time frame: Baseline, 6, 12, 24, and 36 months
Incidence of SMA
Time frame: 6, 12, 24, and 36 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 20 Mar 2026.
- Link to study resultsLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. 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 Muscular Atrophy, Spinal, run by Novartis Pharmaceuticals at 1 site in Czechia.
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 20 Mar 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 Czechia. 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 of Patients by Demographic Category (time frame: Baseline). The study lists 19 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 20 Mar 2026.