An observational study in Spinal Muscular Atrophy, sponsored by Novartis Pharmaceuticals. Recruiting at 1 site in Saudi Arabia. Open to participants aged 14 Days to 2 Years. Per ClinicalTrials.gov, last updated 2026-09-22.
Sponsored by Novartis Pharmaceuticals · Observational
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.
SMA type 1 patients receiving OA at a single clinical center in Saudi Arabia.
Exclusion criteria:
1. Any patient who does not fulfill any of the inclusion criteria listed above.
Patients with SMA type 1 who were treated with OA.
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
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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
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
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
Time frame: Baseline
Age
Age, gestational age at birth, age at symptom onset, and age at SMA type 1 diagnosis.
Time frame: Baseline
Duration Between Symptom Onset and Diagnosis
Time frame: Baseline
Plan to share: No
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