A Real-world Study of Disease-modifying Therapy Treatment Outcomes in Patients With Spinal Muscular Atrophy

Disease-modifying Therapies (DMT) Treatment Outcomes in Patients With Spinal Muscular Atrophy (SMA) - A Real-world Study Using the Komodo Claims Data

The aim of this study was to evaluate treatment patterns, SMA-related complications and services, and all-cause medical encounters of patients with SMA receiving multiple DMTs in the real world. The DMTs included onasemnogene abeparvovec-xioi (OA), nusinersen, and risdiplam. This study was conducted using data from the Komodo Health Research Database (KRD+) between 01 January 2016 and 31 October 2024.

Study Overview

• Status: Completed
• Conditions: Muscular Atrophy, Spinal

• Study Type: Observational
• Enrollment (Actual): 4805

Contacts and Locations

Study Locations

• United States
  • New Jersey
    • East Hanover, New Jersey, United States, 07936
      • Novartis

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

SMA patients with data in the KRD+ between 01 January 2016 and 31 October 2024 who received OA, nusinersen, or risdiplam.

Description

Inclusion criteria

• Patients with ≥1 SMA diagnosis at any time (International Classification of Disease, Tenth Revision, Clinical Modification [ICD-10-CM] codes: G12.0, G12.1, G12.9).
• Patients with ≥1 record of OA, nusinersen, or risdiplam based on relevant Healthcare Common Procedure Coding System (HCPCS) codes and National Drug Code (NDC).
• Patients who received at least 2 of the 3 DMTs, with the first DMT initiated on or after 26 May 2019, when at least 2 DMTs were available. The initiation of the first DMT was defined as the index date and the first DMT was defined as the index DMT.
• Patients with SMA types 1, 2, or 3.
• Patients with ≥1 quarter of clinical activities within 1 year prior to the index quarter (for patients with SMA type 2 and 3 only).
• Patients with ≥1 quarter of clinical activities any time after the index quarter, unless death occurred.

Exclusion criteria

• Patients with SMA type 4.
• Patients with claims of multiple DMTs in their birth year.

Study Plan

How is the study designed?

Number of groups / cohorts

8

Cohorts and Interventions

Group / Cohort
DMT Cohort A; Patients with SMA who were treated with at least 1 DMT and had continuous health insurance coverage in KRD+ closed claims at the time of first DMT initiation.
DMT Cohort B; Patients with SMA who were treated with at least 1 DMT and received the first DMT at age 2 or younger.
DMT Cohort B1; A sub-group of DMT Cohort B who started the first DMT between 2016 and 2021.
DMT Cohort B2; A sub-group of DMT Cohort B who started the first DMT between 2022 and 2024.
DMT Cohort C; Patients with SMA types 1-3 who were treated with multiple DMTs.
DMT Cohort D; A subset of DMT Cohort C who received the first DMT at age two or younger.
DMT Cohort D1; A sub-group of DMT Cohort D who started the first DMT between 2016 and 2021.
DMT Cohort D2; A sub-group of DMT Cohort D who started the first DMT between 2022 and 2024.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Patients by SMA-related Complication, Procedure, and Durable Medical Equipment (DME) Before Receiving the First DMT (Period I)	DME is medical equipment that assists patients with their medical condition, can be used at home, and lasts a long time.	Up to approximately 1 year
Number of Patients by SMA-related Complication, Procedure, and DME After Receiving the First DMT and Before the Second DMT (Period II)	DME is medical equipment that assists patients with their medical condition, can be used at home, and lasts a long time.	Up to an average of approximately 2 years
Number of Patients by SMA-related Complication, Procedure, and DME After Receiving the Second DMT and Before the Third DMT (Period III)	DME is medical equipment that assists patients with their medical condition, can be used at home, and lasts a long time.	Up to an average of approximately 2 years
Number of Patients by All-cause Medical Encounters During Period I	Medical encounters included outpatient visits, inpatient admissions, emergency room visits, and specialist visits.	Up to approximately 1 year
Number of Patients by All-cause Medical Encounters During Period II	Medical encounters included outpatient visits, inpatient admissions, emergency room visits, and specialist visits.	Up to an average of approximately 2 years
Number of Patients by All-cause Medical Encounters During Period III	Medical encounters included outpatient visits, inpatient admissions, emergency room visits, and specialist visits.	Up to an average of approximately 2 years
Number of Medical Encounters per Patient per Year (PPPY) During Period I	Medical encounters included outpatient visits, inpatient admissions, emergency room visits, and specialist visits.	Up to approximately 1 year
Number of Medical Encounters PPPY During Period II	Medical encounters included outpatient visits, inpatient admissions, emergency room visits, and specialist visits.	Up to an average of approximately 2 years
Number of Medical Encounters PPPY During Period III	Medical encounters included outpatient visits, inpatient admissions, emergency room visits, and specialist visits.	Up to an average of approximately 2 years
Inpatient Visit Length of Stay PPPY During Period I		Up to approximately 1 year
Inpatient Visit Length of Stay PPPY During Period II		Up to an average of approximately 2 years
Inpatient Visit Length of Stay PPPY During Period III		Up to an average of approximately 2 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Number of Patients who Received Multiple DMTs by Order in Which DMTs were Received	Up to approximately 5 years and 5 months
Time Between the First and Second DMT Initiation Among Patients Treated With Multiple DMTs	Up to an average of approximately 2 years
Time Between the Second and Third DMT Initiation Among Patients Treated With Multiple DMTs	Up to an average of approximately 2 years
Time on the First DMT During Period II Among Patients Treated With Multiple DMTs	Up to an average of approximately 2 years
Time on the First DMT During Period III Among Patients Treated With Multiple DMTs	Up to an average of approximately 2 years
Time on the Second DMT During Period III Among Patients Treated With Multiple DMTs	Up to an average of approximately 2 years
Number of Patients who Started a Second DMT	Up to approximately 5 years and 5 months
Duration of Continuous Enrollment for Patients Treated With at Least 1 DMT	Up to approximately 5 years and 5 months

Collaborators and Investigators

• Sponsor: Novartis Pharmaceuticals
• Investigators: Study Director: Novartis Pharmaceuticals, Novartis Pharmaceuticals

Study record dates

Study Major Dates

• Study Start (Actual): June 4, 2025
• Primary Completion (Actual): June 30, 2025
• Study Completion (Actual): June 30, 2025

Study Registration Dates

• First Submitted: February 4, 2026
• First Submitted That Met QC Criteria: February 4, 2026
• First Posted (Actual): February 11, 2026

Study Record Updates

• Last Update Posted (Actual): February 11, 2026
• Last Update Submitted That Met QC Criteria: February 4, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Spinal muscular atrophy; Real-world evidence; Treatment patterns; Multiple disease modifying therapies
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy, Spinal
• Other Study ID Numbers: COAV101A1US09

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO