A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia

THE QUICK READ

What this study involves

The registry does not currently label this study as recruiting. Ask about its status before planning a screening visit.

Study type: Observational
Phase: Not applicable / not listed
Age range: 14 days - 2 years
Sex eligible: All sexes
Healthy volunteers: Not accepted
Participants: 6 Estimated

These are starting points, not an eligibility decision. The research team must review the full requirements.

About the research

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.

Who may be able to participate?

The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.

Inclusion criteria:

1. Patients with a genetically confirmed diagnosis of SMA type 1 who were treated with OA.
2. Availability of data on at least one visit before treatment initiation and two visits post-treatment is a must for inclusion.
3. Patients who were treated with OA starting in January 2023.
4. Patients with at least 3 months of follow-up following the treatment with OA.

Exclusion criteria:

1\. Any patient who does not fulfill any of the inclusion criteria listed above.

Study population

SMA type 1 patients receiving OA at a single clinical center in Saudi Arabia.

Understand screening

Treatment, groups and participation

The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.

Assignment: Not reported
Masking: Not reported

OA Cohort

Patients with SMA type 1 who were treated with OA.

Prepare your questions

What researchers are measuring

Outcome measures describe what is being studied. They are not proof that a treatment works.

Primary measures

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

Not reported in this registry record.

Secondary measures

Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score

Time frame: Up to approximately 3 years

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.

Change From Baseline in CHOP-INTEND Score

Time frame: Baseline, up to approximately 3 years

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.

Hammersmith Infant Neurological Examination-Section 2 (HINE-2, Motor Milestones) Score

Time frame: Up to approximately 3 years

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.

Change From Baseline in HINE-2 Score

Time frame: Baseline, up to approximately 3 years

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.

Percentage of Patients who Maintain the Ability to Thrive at 12 Months After OA Treatment

Time frame: 12 months

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.

Number and Percentage of Patients Without Permanent Ventilatory Support or Death After OA Administration

Time frame: Up to approximately 3 years

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.

Number and Percentage of Patients With Adverse Events

Time frame: Up to approximately 3 years

Not reported in this registry record.

Number and Percentage of Patients by Demographic and Clinical Characteristics

Time frame: Baseline

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

Age

Time frame: Baseline

Age, gestational age at birth, age at symptom onset, and age at SMA type 1 diagnosis.

Duration Between Symptom Onset and Diagnosis

Time frame: Baseline

Not reported in this registry record.

No results are flagged as posted.

Review the complete result tables and limitations in the official record.

Open official results ↗

Research locations (0)

The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.

No locations are listed. Use the official study contact.

Study team and timeline

Lead sponsor: Novartis Pharmaceuticals
Study start: Nov 30, 2026 Estimated
Primary completion: Feb 28, 2027 Estimated
Study completion: Feb 28, 2027 Estimated
First posted: Jul 30, 2026 Actual
Last updated: Nov 10, 2026 Actual

Official study contacts

Novartis PharmaceuticalsCONTACTnovartis.email@novartis.com +41613241111

Novartis PharmaceuticalsCONTACT

Official study title

Spinal Muscular Atrophy Center-based REAL World Retrospective Medical Chart Review of Patient Treated With Onasemnogene Abeparvovec (Zolgensma®) in Saudi Arabia

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Source: ClinicalTrials.gov API v2. Information is submitted by sponsors and investigators. NLM does not approve the safety or science of all listed studies. Registry disclaimer.

Retrieved: Nov 12, 2026 · Last registry update: Nov 10, 2026