Spinal Muscular Atrophy
Conditions
Keywords
Spinal Muscular Atrophy, Neuromuscular Disorders, Pediatric Neurology, Gene Therapy, Onasemnogene Abeparvovec, Rare Diseases
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.
Interventions
None listed
Sponsors
Novartis Pharmaceuticals
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
14 Days to 2 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| 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 | Up to 12 months |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score | 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 | 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 | 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 | 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 | 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 | 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 | Up to approximately 3 years | — |
| Number and Percentage of Patients by Demographic and Clinical Characteristics | 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 | Baseline | Age, gestational age at birth, age at symptom onset, and age at SMA type 1 diagnosis. |
| Duration Between Symptom Onset and Diagnosis | Baseline | — |
Contacts
CONTACTNovartis Pharmaceuticals
STUDY_DIRECTORNovartis Pharmaceuticals
Novartis Pharmaceuticals
Outcome results
None listed