Real-World Use of Novel Treatments in Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Chart Review of Pediatric SMA Patients Outside of the United States

NCT06178393 | Completed

• 1 other identifier: COAV101A12402
• Study Type: observational
• Target: 162
• Locations: 1 country
• Sites: 1

Brief Summary

This global, retrospective, non-interventional, medical chart review (MCR), descriptive study collected patient-level data in regions outside the US. The study required a repeated data collection at follow-up dates from start of treatment with nusinersen, onasemnogene abeparvovec-xioi (OA), and/or risdiplam. At the start of data collection, the study team reached out to the health care providers (HCPs) involved in treating pediatric SMA patients for participating in this study. The physicians across the participating countries conducted a retrospective MCR of pediatric patients diagnosed with SMA who were treated with at least 1of the 3 novel disease-modifying treatments (DMTs): nusinersen, OA, and/or risdiplam. All health care encounters data i.e., emergency and inpatient admissions, surgery, and outpatient consultations of recruited patients, including their treatment with nusinersen, OA, and/or risdiplam, were abstracted to understand the treatment patterns as per routine clinical practice for SMA management globally. The first date of initial administration of 1 of the 3 target drugs was used as the "index date." Based on this, the record abstraction was performed through a retrospective MCR during the pre-index period, at index date and in the post-index period.

Conditions

Spinal Muscular Atrophy

Outcome Measures

Primary Outcomes (17)

• Number and proportion of male patients

  Baseline

• Number and proportion of female patients

  Baseline

• Number and proportion of patients per race

  Baseline

• Number and proportion of patients per insurance type

  Baseline

• Number and proportion of patients per gestational age category at birth

  Baseline

• Number and proportion of patients per country

  Baseline

• Number and proportion of patients with prenatal screening performed and confirmed for SMA

  Baseline

• Number and proportion of patients undergoing newborn screening for SMA

  Baseline

• Number and proportion of patients experiencing SMA-related symptoms prior to initiation of the first DMT (index drug)

  Baseline

• Mean age at onset of SMA-related symptoms experienced prior to initiation of the first DMT

  Baseline

• Mean age at SMA genetic diagnosis

  Baseline

• Number and proportion of patients who had as survival of motor neuron 1 (SMN1) genetic test

  Baseline

• Number and proportion of patients per SMN1 genetic test result category

  Baseline

• Number and proportion of patients who had a survival of motor neuron 2 (SMN2) genetic test

  Baseline

• Number and proportion of patients per SMN2 gene copy number

  Baseline

• Number and proportion of patients per SMA type at diagnosis

  Baseline

• Mean body weight

  Baseline

Secondary Outcomes (88)

• Time to first improvement from last pre-index/pre-switch assessment

  Up to approximately 5 years

• Time from pre-index/last pre- switch until the last follow-up visit with available data for the overall developmental motor milestones rates

  Up to approximately 5 years

• Number and proportion of patients who achieved at least once ≥ 1 point increase on the Hammersmith infant neurological examination: Section 2 (HINE-2, motor milestones)

  Up to approximately 5 years

• Number and proportion of patients who achieved at least once ≥ 3 points increase on the Hammersmith Functional Motor Scale-Expanded (HFMSE)

  Up to approximately 5 years

• Number and proportion of patients who achieved at least once ≥ 3 points decrease on the HFMSE

  Up to approximately 5 years

Study Arms (6)

OA monotherapy

Nusinersen monotherapy

Other DMTs switched to OA

OA add-on other DMTs

Combination, other DMTs with OA

Other treatment sequence

Eligibility Criteria

• Age: Up to 5 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

This was a retrospective, noninterventional cohort study.

You may qualify if:

• Genetically confirmed diagnosis of SMA.
• Aged less than 5 years at index date.
• Initiated treatment with nusinersen or onasemnogene abeparvovec-xioi or risdiplam or any combination of them during the identification period.
• Availability of medical information in chart for at least 1 visit prior to initiation of treatment with the target treatment(s).

You may not qualify if:

• None

Sponsors & Collaborators

• Novartis Pharmaceuticals: lead

Study Sites (1)

Novartis

Bannockburn, Illinois, 60015, United States

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Novartis Pharmaceuticals

  Novartis Pharmaceuticals

  STUDY DIRECTOR

Study Design

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

Study Record Dates

• First Submitted: December 11, 2023
• First Posted: December 21, 2023
• Study Start: May 5, 2022
• Primary Completion: December 30, 2022
• Study Completion: December 30, 2022
• Last Updated: December 21, 2023

Record last verified: 2023-12

Locations

US (1)