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

Novartis69 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

Spinal Muscular Atrophy Type I Spinal Muscular Atrophy Type II

Eligibility

Sex: ALLMax age: 14 Years

Medical Language ↔ Plain English

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.

Locations (1)

Novartis Pharmaceuticals

East Hanover, New Jersey, United States

Outcomes

Primary Outcomes

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

Time frame: 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

Time frame: 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

Time frame: Up to 12 months

Secondary Outcomes

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)

Time frame: Baseline

Data from ClinicalTrials.gov

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Sociodemographic: Age

* Age at the time of data collection * Age of onset of SMA symptoms * Age at clinical diagnosis of SMA * Age of death

Time frame: Baseline

Sociodemographic: Weight

Time frame: Baseline

Sociodemographic: Height

Time frame: Baseline

Sociodemographic: Body mass index (BMI)

Time frame: 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

Time frame: Baseline

Clinical Characteristic: Age From Which Information Was Available

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: 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.

Time frame: 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

Time frame: 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

Time frame: 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)

Time frame: Baseline

Clinical Characteristic: Number of Patients Categorized by Reason of Ventilatory Support Regimen

Reasons of ventilatory support included: * Preventive intent * Therapeutic intent

Time frame: Baseline

Clinical Characteristic: Duration of Ventilatory Support

Time frame: Baseline

Clinical Characteristic: Number of Patients With Nutritional Supplementation

Time frame: 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

Time frame: 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).

Time frame: Baseline

Clinical Characteristic: Number of Patients Who Received Liquid Thickener and Nutritional Supplements by Mouth

Time frame: Baseline

Clinical Characteristic: Number of Patients Who Received Liquid Thickener and Nutritional Supplements Through a Feeding Tube

Time frame: Baseline

Clinical Characteristic: Duration of Nutritional Supplementation Received by Mouth and Through a Feeding Tube or Gastrostomy

Time frame: Baseline

Clinical Characteristic: Number of Surgeries for Patients With Scoliosis

Time frame: 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

Time frame: Baseline

Clinical Characteristic: Number of Patients Categorized by Type of Joint Contracture

Types of joint contractures included proximal and distal.

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: Up to 12 months

Total Number of Scheduled and Unscheduled Healthcare Visits per Patient per Year

Time frame: 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

Time frame: Up to 12 months

Number of SMA-related Emergency Room Visits

SMA-related emergency room visits included outpatient and hospital visits.

Time frame: Up to 12 months

Number of SMA-related Hospitalizations

SMA-related hospitalizations included visits to day hospital, admissions to ward, intensive care unit admissions.

Time frame: 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.

Time frame: 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.

Time frame: Up to 12 months

Number of Patients With a Multidisciplinary Follow-up

Time frame: 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

Time frame: 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

Time frame: 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

Time frame: Up to 12 months

Total Additional Tests

Time frame: 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