Therapeutic Management and Use of Resources and Costs of Spinal Muscular Atrophy in Spain

Therapeutic Management and Current Situation Related to the Use of Resources and Costs of Spinal Muscular Atrophy (SMA) in Spain: A Retrospective, Multicenter Analysis Based on Medical Record Review. TREaSURE Study

An observational, retrospective, cross-sectional, multicenter study. Real-world data were obtained from medical records of Spanish public hospitals (9 hospitals).

Study Overview

• Status: Completed
• Conditions: Spinal Muscular Atrophy Type II; Spinal Muscular Atrophy Type I

• Study Type: Observational
• Enrollment (Actual): 69

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

This was a retrospective, noninterventional cohort study.

Description

Inclusion criteria:

• Patients diagnosed with SMA type I or SMA type II.
• Patients with medical records available in the hospital.
• Patients diagnosed with SMA type I or SMA type II after 2017 for whom a minimum of 6 months of follow-up was available.

Exclusion criteria:

• Patients who participated in an experimental design study except for those in the long-term follow-up period, during the observation period.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Spinal Muscular Atrophy (SMA) Cohort; Pediatric patients with SMA type I, SMA type II, or presymptomatic SMA.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Cost per Year of Use of Resources for Medical Visits	Medical visits included: Primary care; Pediatric neurology; Rehabilitation physician; Traumatologist; Nutritionist; Pulmonologist; Cardiologist; Physical therapist; Nursing staff; Phoniatrist; Speech therapist; Rehabilitation sessions; Other specialists; Total medical visits; Hospital emergency room visits; Outpatient emergency room visit; Hospitalizations/Admissions to ward; Hospitalizations due to admissions to the intensive care unit (ICU); Total hospitalizations (ward and ICU); Therapy session separately from medical visits	Up to 12 months
Costs per Year of Use of Resources for Medical Tests	Medical tests included: Blood count; Vitamin D test; Blood creatine kinase test; Electromyogram; Brain magnetic resonance imaging; Muscle magnetic resonance imaging; Bone densitometry; Nocturnal polysomnography; Muscle biopsy; Nerve conduction velocity study; Blood amino acid test; DNA test to confirm diagnosis; Total additional tests	Up to 12 months
Cost per Year of Use of Resources for Treatment	Treatments included: Nusinersen (loading and maintenance dose); Total Nusinersen; Risdiplam; Onasemnogene abeparvovec; Total treatments for SMA; Palivizumab; Influenza vaccine; Meningococcal vaccine; High protein shakes; Total adjuvant treatments; Total treatments	Up to 12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Patients per Sociodemographic Category	Sociodemographics included: Biological sex; Dead patients; Growth percentiles for growth charts (3%, 4-15%, 16-50%, 51-85%, 86-97%, greater than 97%); Patient's cohabitants (father, mother, both parents, brother(s), sister(s), other relatives); Patient's caregiver (father, mother, both parents, brother(s), sister(s), other relatives); Patient's primary caregiver (father, mother, both parents, brother(s), sister(s), other relatives)	Baseline
Sociodemographic: Age	Age at the time of data collection; Age of onset of SMA symptoms; Age at clinical diagnosis of SMA; Age of death	Baseline
Sociodemographic: Weight		Baseline
Sociodemographic: Height		Baseline
Sociodemographic: Body mass index (BMI)		Baseline
Number of Patients per Clinical Characteristic Category	Clinical characteristics included: Anti-adeno-associated virus serotype 9 (AAV9) antibody titer test; Neonatal screening for SMA together with other screening tests; Prenatal or perinatal SMA diagnosis; Ventilatory support; Patient with scoliosis; Patient with scoliosis surgery; Patients with a chair for scoliosis; Total or partial cost of the chair for scoliosis borne by the family; Patients still use a chair for scoliosis at the time of data collection; Patients with back brace; Total or partial cost of the back brace borne by the family; Patient with hip dislocations or subluxations; Head control; Relevant medical record; End of ventilatory support	Baseline
Clinical Characteristic: Age From Which Information Was Available		Baseline
Clinical Characteristic: Time From Onset of Symptoms to Diagnosis	Time intervals included: Less than 1 month; 1 to 3 months; 4 to 6 months; 7 to 18 months; More than 18 months	Baseline
Clinical Characteristic: Number of Patients Categorized by International Classification of Diseases (ICD) Code	ICD codes included: ICD-9 335.1: Spinal muscular atrophy; ICD-9: 335.1: Spinal muscular amyotrophy, unspecified; ICD-9 335.11: Kugelberg-Welander disease; ICD-10 G12.1: Other hereditary spinal muscular atrophies; ICD-10 G12.25: Progressive spinal muscular atrophy; ICD-10 G12.8: Other spinal muscular atrophies and related syndromes; ICD-10 G12.9: Spinal muscular atrophy, unspecified	Baseline
Clinical Characteristic: Number of Patients Categorized by Type of Diagnosis of Muscle Atrophy	Diagnosis types included: Clinical suspicion and subsequent patient referral for genetic confirmation; Genetic diagnosis	Baseline
Clinical Characteristic: Number of Patients Categorized by Type of Mutation	Mutations included: Biallelic deletion of exons; Biallelic deletion of exon 7; Biallelic deletion of exons 7 and 8; Compound heterozygous mutation; Point mutation and deletion of exons 7 and 8; Biallelic point mutation	Baseline
Clinical Characteristic: Number of Patients Categorized by Survival of Motor Neuron 2 (SMN2) Gene Copy Number	SMN2 copy numbers: 0, 1, 2, 3, 4, and greater than 4.	Baseline
Clinical Characteristic: Number of Patients Categorized by SMA-associated Comorbidities	SMA-associated comorbidities included: Chronic lung disease; Swallowing impairment; Malnutrition; Hypoxic encephalopathy; Relapsing obstructive bronchial syndrome; Recurrent pneumonia; Sleep apnea-hypopnea syndrome; Epilepsy; Hip dysplasia; Obesity; Respiratory compromise; Thorax deformity; Scoliosis; Other	Baseline
Clinical Characteristic: Number of Patients Categorized by Family History of SMA	Family history categories included: Yes; No; Mother; Father; Both parents; Brothers and sisters; Other	Baseline
Clinical Characteristic: Number of Patients Categorized by Type of Ventilatory Support	Types of ventilatory support included: Invasive (hospital and outpatient); Non-invasive (hospital and outpatient)	Baseline
Clinical Characteristic: Number of Patients Categorized by Reason of Ventilatory Support Regimen	Reasons of ventilatory support included: Preventive intent; Therapeutic intent	Baseline
Clinical Characteristic: Duration of Ventilatory Support		Baseline
Clinical Characteristic: Number of Patients With Nutritional Supplementation		Baseline
Clinical Characteristic: Number of Patients Categorized by Type of Administration of Nutritional Supplementation	Types of administration included: By mouth; Through a feeding tube; Both (mouth and feeding tube); Through gastrostomy	Baseline
Clinical Characteristic: Number of Patients Categorized by Type of Nutritional Supplementation Received by Mouth	Types of nutritional supplementation included liquid thickeners (corn starch and Nutilis Clear thickener, neutral taste, Nutricia) and nutrition supplements (Resource shakes, High protein shakes, Ensure Junior drink, Infatrini, Pediasure Complete, RESOURCE C, Vitamin D, Fortini high protein shakes, protein shakes, Pediasure, Resource with fiber, Resource protein).	Baseline
Clinical Characteristic: Number of Patients Who Received Liquid Thickener and Nutritional Supplements by Mouth		Baseline
Clinical Characteristic: Number of Patients Who Received Liquid Thickener and Nutritional Supplements Through a Feeding Tube		Baseline
Clinical Characteristic: Duration of Nutritional Supplementation Received by Mouth and Through a Feeding Tube or Gastrostomy		Baseline
Clinical Characteristic: Number of Surgeries for Patients With Scoliosis		Baseline
Clinical Characteristic: Number of Patients Categorized by Type of Surgery Received for Scoliosis	Types of surgeries included: Growing rods lengthening; Dorsal/lumbar dorsal arthrodesis; Growing rods	Baseline
Clinical Characteristic: Number of Patients Categorized by Type of Joint Contracture	Types of joint contractures included proximal and distal.	Baseline
Clinical Characteristic: Number of Patients Who Reached Each Motor Development Milestone	Developmental Milestones: Sitting independently or with support; Standing independently or with support; Walking independently or with support; Crawling with the elbows, belly crawl, or with hands and knees	Baseline
Clinical Characteristic: Number of Patients Categorized by Relevant Surgical History in Addition to Scoliosis Surgery Related to SMA Categorized by Type of Surgery	Surgeries included: Mouth surgery; Tracheostomy; Surgery for gastrostomy; Tenotomy; Other	Baseline
Number of Scheduled and Unscheduled Healthcare Visits per Patient per Year	Healthcare visits included: General; Primary care; Pediatric neurology; Rehabilitation physician; Traumatologist; Nutritionist; Pulmonology; Cardiologist; Physical therapy; Nursing staff; Phoniatrist; Speech therapist; Rehabilitation sessions; Other experts; Emergency Room; Related to therapy	Up to 12 months
Total Number of Scheduled and Unscheduled Healthcare Visits per Patient per Year		Up to 12 months
Number of Scheduled and Unscheduled SMA-related Medical Visits	SMA-related medical visits included: Primary care; Pediatric neurology; Rehabilitation physician; Traumatologist; Nutritionist; Pulmonologist; Cardiologist; Physical therapist; Nursing staff; Phoniatrist; Speech therapist; Rehabilitation sessions; Other specialists	Up to 12 months
Number of SMA-related Emergency Room Visits	SMA-related emergency room visits included outpatient and hospital visits.	Up to 12 months
Number of SMA-related Hospitalizations	SMA-related hospitalizations included visits to day hospital, admissions to ward, intensive care unit admissions.	Up to 12 months
Number of Patients Categorized by Reason for Hospitalization	Hospitalization included admission to ward. Reason for hospitalization included related to treatment and not related to treatment.	Up to 12 months
Number of Patients Categorized by Reason for Admission to Intensive Care Unit (ICU)	Reason for admission to ICU included related to treatment and not related to treatment.	Up to 12 months
Number of Patients With a Multidisciplinary Follow-up		Up to 12 months
Number of Patients Categorized by Medical Areas Involved in Follow-up	Medical areas included: Pulmonology; Endocrinology/nutrition; Physical therapy; Rehabilitation; Logopedics; Thoracic surgery; Orthopedics; Other	Up to 12 months
Number of Patients Categorized by Type of Additional Tests Needed	Additional tests included: Blood count; Vitamin D test; Blood creatine kinase test; Electromyogram; Brain magnetic resonance imaging; Muscle magnetic resonance imaging; Bone densitometry; Nocturnal polysomnography; Muscle biopsy; Nerve conduction velocity study; Blood amino acid test; DNA test to confirm diagnosis	Up to 12 months
Number of Times Each Additional Test Was Performed	Additional tests included: Blood count; Vitamin D; Blood creatine kinase; Electromyogram; Brain magnetic resonance imaging; Muscle magnetic resonance imaging; Bone densitometry; Nocturnal polysomnography; Muscle biopsy; Nerve conduction velocity study; Blood amino acid test; DNA test to confirm diagnosis	Up to 12 months
Total Additional Tests		Up to 12 months
Number of Patients Categorized by Type of Treatment for SMA	Treatments included: Nusinersen; Risdiplam; Onasemnogene abeparvovec; Palivizumab; Influenza vaccine; Meningococcal vaccine; High protein shakes	Up to 6 years and 4 months
Number of Nusinersen Doses	Nusinersen doses included loading and maintenance doses.	Up to 6 years and 4 months
Risdiplam Dose	Risdiplam dose included starting dose and dose changes.	Up to 6 years and 4 months
Palivizumab Dose		Up to 6 years and 4 months
Number of High Protein Shakes per Day		Up to 6 years and 4 months
Number of Months of Taking High Protein Shakes		Up to 6 years and 4 months

Collaborators and Investigators

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

Study record dates

Study Major Dates

• Study Start (Actual): July 5, 2023
• Primary Completion (Actual): November 20, 2023
• Study Completion (Actual): November 20, 2023

Study Registration Dates

• First Submitted: October 7, 2024
• First Submitted That Met QC Criteria: October 7, 2024
• First Posted (Estimated): October 9, 2024

Study Record Updates

• Last Update Posted (Estimated): October 9, 2024
• Last Update Submitted That Met QC Criteria: October 7, 2024
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Motor Neuron Disease; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal; Spinal Muscular Atrophies of Childhood
• Other Study ID Numbers: COAV101A1ES05