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

NCT07737756 | Recruiting

• 1 other identifier: COAV101A1SA01
• Study Type: observational
• Target: 6
• Locations: 1 country
• Sites: 1

Brief 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. 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

Outcome Measures

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

  Up to 12 months

Secondary Outcomes (10)

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

  Up to approximately 3 years

• Change From Baseline in CHOP-INTEND Score

  Baseline, up to approximately 3 years

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

  Up to approximately 3 years

• Change From Baseline in HINE-2 Score

  Baseline, up to approximately 3 years

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

  12 months

Study Arms (1)

OA Cohort

Patients with SMA type 1 who were treated with OA.

Eligibility Criteria

• Age: 14 Days - 2 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• Patients with a genetically confirmed diagnosis of SMA type 1 who were treated with OA.
• Patients who were treated with OA starting in January 2023.
• Patients with at least 3 months of follow-up following the treatment with OA.

Sponsors & Collaborators

• Novartis Pharmaceuticals: lead

Study Sites (1)

Novartis Investigative Site

Dammam, 15215, Saudi Arabia

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Neuromuscular Diseases; Rare Diseases

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Novartis Pharmaceuticals

  Novartis Pharmaceuticals

  STUDY DIRECTOR

Central Study Contacts

Novartis Pharmaceuticals

CONTACT

+41613241111; novartis.email@novartis.com

Novartis Pharmaceuticals

CONTACT

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 27, 2026
• First Posted: July 30, 2026
• Study Start: August 25, 2026
• Primary Completion (Estimated): November 25, 2026
• Study Completion (Estimated): November 25, 2026
• Last Updated: September 22, 2026

Record last verified: 2026-09

Data Sharing

• IPD Sharing: Will not share

Locations

SA (1)