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NCT Number: NCT07737756

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

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Key information

Conditions

Spinal Muscular Atrophy Central Nervous System Diseases Disease Attributes Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases Spinal Cord Diseases

Age range

14 day–2 year

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

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

Treatment and study plan

Primary outcomes

  1. 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

Secondary outcomes

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. Number and Percentage of Patients With Adverse Events

    Time frame: Up to approximately 3 years

  8. 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

  9. Age

    Time frame: Baseline

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

  10. Duration Between Symptom Onset and Diagnosis

    Time frame: Baseline

Study contacts

Contact information is provided by the study sponsor or research team.

Novartis Pharmaceuticals

CONTACT

[email protected]

+41613241111

Novartis Pharmaceuticals

CONTACT

Sponsors and collaborators

Lead sponsor

Novartis Pharmaceuticals

Industry

Registry information

Official study title

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

Acronym: SMA-REAL

Important dates

Study start
2026
Primary completion
2026
Study completion
2026
First posted
Jul 30, 2026
Registry last updated
Jul 30, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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