Spinal Muscular AtrophySMA-REALNCT07737756
A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia
An observational study of Spinal Muscular Atrophy, run by Novartis Pharmaceuticals.
Trial summary
The aim of this retrospective medical chart review is to describe the clinical outcomes, clinical characteristics, and demographics of patients with spinal muscular atrophy (SMA) type 1 treated with onasemnogene abeparvovec (OA) at a single clinical center in Saudi Arabia. Read more about this study
- Who is it for?
- Ages 14 days to 2 years
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 6 participants
- Where
- No sites listed yet
- Study dates
- 1 Nov 2026to 1 Feb 2027
- 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 14 days to 2 years
- All sexes
- No healthy volunteers
- Child
Study population: SMA type 1 patients receiving OA at a single clinical center in Saudi Arabia.
Who may be able to join
- Patients with a genetically confirmed diagnosis of SMA type 1 who were treated with OA.
- Availability of data on at least one visit before treatment initiation and two visits post-treatment is a must for inclusion.
- Patients who were treated with OA starting in January 2023.
- Patients with at least 3 months of follow-up following the treatment with OA.
Who cannot join
- 1. Any patient who does not fulfill any of the inclusion criteria listed above.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
Novartis Pharmaceuticals contact
About this study
Official title: Spinal Muscular Atrophy Center-based REAL World Retrospective Medical Chart Review of Patient Treated With Onasemnogene Abeparvovec (Zolgensma®) in Saudi Arabia
The aim of this retrospective medical chart review is to describe the clinical outcomes, clinical characteristics, and demographics of patients with spinal muscular atrophy (SMA) type 1 treated with onasemnogene abeparvovec (OA) at a single clinical center in Saudi Arabia. The study will use secondary data collected from the electronic medical records of SMA type 1 patients.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Spinal Muscular Atrophy, Neuromuscular Disorders, Pediatric Neurology, Gene Therapy, Onasemnogene Abeparvovec, Rare Diseases
- Medical subject headings
- Muscular Atrophy, Spinal, Neuromuscular Diseases, Rare Diseases
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 Cohort | Patients with SMA type 1 who were treated with OA. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of SMA Type 1 Non-Sitters Patients Achieving Independent Sitting for ≥30 Seconds at Any Visit up to 12 Months After OA Administration
Measured: Up to 12 months
Secondary outcomes (10)
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score
CHOP-INTEND is a validated motor function assessment for infants with SMA. The total score ranges from 0 to 64, with higher scores indicating better motor function. Scores are derived from 16 items assessing spontaneous movement, strength, and motor abilities. An increase in score reflects improvement in motor function.
Measured: Up to approximately 3 years
Change From Baseline in CHOP-INTEND Score
CHOP-INTEND is a validated motor function assessment for infants with SMA. The total score ranges from 0 to 64, with higher scores indicating better motor function. Scores are derived from 16 items assessing spontaneous movement, strength, and motor abilities. An increase in score reflects improvement in motor function.
Measured: Baseline, up to approximately 3 years
Hammersmith Infant Neurological Examination-Section 2 (HINE-2, Motor Milestones) Score
The HINE-2 is a motor milestone assessment evaluating developmental abilities in infants. The total score ranges from 0 to 26, with higher scores indicating greater achievement of motor milestones. The scale assesses milestones such as head control, sitting, rolling, crawling, standing, and walking. Higher scores correspond to more advanced motor development.
Measured: Up to approximately 3 years
Change From Baseline in HINE-2 Score
The HINE-2 is a motor milestone assessment evaluating developmental abilities in infants. The total score ranges from 0 to 26, with higher scores indicating greater achievement of motor milestones. The scale assesses milestones such as head control, sitting, rolling, crawling, standing, and walking. Higher scores correspond to more advanced motor development.
Measured: Baseline, up to approximately 3 years
Percentage of Patients who Maintain the Ability to Thrive at 12 Months After OA Treatment
Ability to thrive is defined as meeting the following criteria:
- Ability to tolerate thin liquids, as demonstrated by a formal swallowing assessment, with tested consistency classified as "very thin" or "thin" and results recorded as "normal swallow," "functional swallow," or "safe for swallowing";
- No requirement for nutritional support via mechanical feeding methods (e.g., feeding tube);
- Maintenance of body weight at or above the 3rd percentile for age and sex, according to World Health Organization (WHO) child growth standards, appropriate for the child's age at assessment.
Measured: 12 months
Number and Percentage of Patients Without Permanent Ventilatory Support or Death After OA Administration
Event-free survival of patients without permanent ventilatory support or death after OA administration.
Permanent ventilatory support is defined as the requirement for either:
- Tracheostomy, or
- ≥16 hours per day of respiratory support (including non-invasive ventilation) for 14 or more consecutive days, in the absence of an acute reversible illness and excluding perioperative ventilation.
Measured: Up to approximately 3 years
Number and Percentage of Patients With Adverse Events
Measured: Up to approximately 3 years
Number and Percentage of Patients by Demographic and Clinical Characteristics
Demographic and clinical characteristics include:
- Sex
- City of residence
- Preterm birth status
- Functional classification
- Developmental milestones achieved prior to treatment initiation
- SMA-related symptoms
- Comorbidities
- CHOP-INTEND Score
- HINE-2 Score
- Ambulatory status
- Swallowing assessment result
- Feeding method
- Anthropometric measures
Measured: Baseline
Age
Age, gestational age at birth, age at symptom onset, and age at SMA type 1 diagnosis.
Measured: Baseline
Duration Between Symptom Onset and Diagnosis
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jul 2026
- Study start1 Nov 2026 (estimated)
- Primary completion1 Feb 2027 (estimated)
- Study completion1 Feb 2027 (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 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
- 6 participants (estimated)
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
- NCT07737756
- Sponsor's protocol ID
- COAV101A1SA01
- Acronym
- SMA-REAL
- Status last verified
- Oct 2026
- First submitted
- 27 Jul 2026
- Last updated
- 15 Oct 2026
- Results posted
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Spinal Muscular Atrophy Center-based REAL World Retrospective Medical Chart Review of Patient Treated With Onasemnogene Abeparvovec (Zolgensma®) in Saudi Arabia
- ClinicalTrials.gov ID
- NCT07737756
- Acronym / sponsor ID
- SMA-REAL / COAV101A1SA01
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Spinal Muscular Atrophy, Neuromuscular Disorders, Pediatric Neurology, Gene Therapy, Onasemnogene Abeparvovec, Rare Diseases
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Novartis PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- 1 Nov 2026 (estimated)
- Primary completion
- 1 Feb 2027 (estimated)
- Study completion
- 1 Feb 2027 (estimated)
- First posted
- 30 Jul 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 retrospective medical chart review is to describe the clinical outcomes, clinical characteristics, and demographics of patients with spinal muscular atrophy (SMA) type 1 treated with onasemnogene abeparvovec (OA) at a single clinical center in Saudi Arabia. The study will use secondary data collected from the electronic medical records of SMA type 1 patients.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| OA Cohort | – | –Patients with SMA type 1 who were treated with OA. |
Who may qualify
- Ages
- 14 days to 2 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- SMA type 1 patients receiving OA at a single clinical center in Saudi Arabia.
Key inclusion criteria (4 listed)
- Patients with a genetically confirmed diagnosis of SMA type 1 who were treated with OA.
- Availability of data on at least one visit before treatment initiation and two visits post-treatment is a must for inclusion.
- Patients who were treated with OA starting in January 2023.
- Patients with at least 3 months of follow-up following the treatment with OA.
Key exclusion criteria (1 listed)
- 1. Any patient who does not fulfill any of the inclusion criteria listed above.
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
Proportion of SMA Type 1 Non-Sitters Patients Achieving Independent Sitting for ≥30 Seconds at Any Visit up to 12 Months After OA Administration
Time frame: Up to 12 months
10 secondary outcomes
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score
Time frame: Up to approximately 3 years
Change From Baseline in CHOP-INTEND Score
Time frame: Baseline, up to approximately 3 years
Hammersmith Infant Neurological Examination-Section 2 (HINE-2, Motor Milestones) Score
Time frame: Up to approximately 3 years
Change From Baseline in HINE-2 Score
Time frame: Baseline, up to approximately 3 years
Percentage of Patients who Maintain the Ability to Thrive at 12 Months After OA Treatment
Time frame: 12 months
Number and Percentage of Patients Without Permanent Ventilatory Support or Death After OA Administration
Time frame: Up to approximately 3 years
Number and Percentage of Patients With Adverse Events
Time frame: Up to approximately 3 years
Number and Percentage of Patients by Demographic and Clinical Characteristics
Time frame: Baseline
Age
Time frame: Baseline
Duration Between Symptom Onset and Diagnosis
Time frame: Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2026.
- 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.
Novartis Pharmaceuticals contact
Novartis Pharmaceuticals study director
Novartis Pharmaceuticals
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy, run by Novartis Pharmaceuticals.
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: opening soon, as of the sponsor's last update on 15 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
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 Novartis Pharmaceuticals (+41613241111, novartis.email@novartis.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of SMA Type 1 Non-Sitters Patients Achieving Independent Sitting for ≥30 Seconds at Any Visit up to 12 Months After OA Administration (time frame: Up to 12 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 15 Oct 2026.