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

August 28, 2026 updated by: Novartis Pharmaceuticals

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.

Study Overview

Status

Not yet recruiting

Conditions

Spinal Muscular Atrophy

Study Type

Observational

Enrollment (Estimated)

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Name: Novartis Pharmaceuticals
Phone Number: +41613241111
Email: novartis.email@novartis.com

Study Contact Backup

Name: Novartis Pharmaceuticals

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

Child

Accepts Healthy Volunteers

Sampling Method

Non-Probability Sample

Study Population

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

Description

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:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
OA Cohort Patients with SMA type 1 who were treated with OA.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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	Up to 12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	Up to approximately 3 years
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.	Baseline, up to approximately 3 years
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.	Up to approximately 3 years
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.	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	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.	12 months
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.	Up to approximately 3 years
Number and Percentage of Patients With Adverse Events Time Frame: Up to approximately 3 years		Up to approximately 3 years
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	Baseline
Age Time Frame: Baseline	Age, gestational age at birth, age at symptom onset, and age at SMA type 1 diagnosis.	Baseline
Duration Between Symptom Onset and Diagnosis Time Frame: Baseline		Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Novartis Pharmaceuticals

Investigators

Study Director: Novartis Pharmaceuticals, Novartis Pharmaceuticals

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

August 20, 2026

Primary Completion (Estimated)

November 20, 2026

Study Completion (Estimated)

November 20, 2026

Study Registration Dates

First Submitted

July 27, 2026

First Submitted That Met QC Criteria