Therapeutic Management and Use of Resources and Costs of Spinal Muscular Atrophy in Spain
- Conditions
- Registration Number
- NCT06632730
- Lead Sponsor
- Novartis
- Brief Summary
An observational, retrospective, cross-sectional, multicenter study. Real-world data were obtained from medical records of Spanish public hospitals (9 hospitals).
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 69
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Cost per Year of Use of Resources for Medical Visits Up to 12 months 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
...Costs per Year of Use of Resources for Medical Tests Up to 12 months 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
...Cost per Year of Use of Resources for Treatment Up to 12 months 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
- Secondary Outcome Measures
Name Time Method Number of Patients per Sociodemographic Category Baseline 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)
...Sociodemographic: Age Baseline * Age at the time of data collection
* Age of onset of SMA symptoms
* Age at clinical diagnosis of SMA
* Age of deathSociodemographic: Weight Baseline Sociodemographic: Height Baseline Sociodemographic: Body mass index (BMI) Baseline Number of Patients per Clinical Characteristic Category Baseline 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
...Clinical Characteristic: Age From Which Information Was Available Baseline Clinical Characteristic: Time From Onset of Symptoms to Diagnosis Baseline Time intervals included:
* Less than 1 month
* 1 to 3 months
* 4 to 6 months
* 7 to 18 months
* More than 18 monthsClinical Characteristic: Number of Patients Categorized by International Classification of Diseases (ICD) Code Baseline 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
...Clinical Characteristic: Number of Patients Categorized by Type of Diagnosis of Muscle Atrophy Baseline Diagnosis types included:
* Clinical suspicion and subsequent patient referral for genetic confirmation
* Genetic diagnosisClinical Characteristic: Number of Patients Categorized by Type of Mutation Baseline 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 mutationClinical Characteristic: Number of Patients Categorized by Survival of Motor Neuron 2 (SMN2) Gene Copy Number Baseline SMN2 copy numbers: 0, 1, 2, 3, 4, and greater than 4.
Clinical Characteristic: Number of Patients Categorized by SMA-associated Comorbidities Baseline 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
* OtherClinical Characteristic: Number of Patients Categorized by Family History of SMA Baseline Family history categories included:
* Yes
* No
* Mother
* Father
* Both parents
* Brothers and sisters
* OtherClinical Characteristic: Number of Patients Categorized by Type of Ventilatory Support Baseline Types of ventilatory support included:
* Invasive (hospital and outpatient)
* Non-invasive (hospital and outpatient)Clinical Characteristic: Number of Patients Categorized by Reason of Ventilatory Support Regimen Baseline Reasons of ventilatory support included:
* Preventive intent
* Therapeutic intentClinical 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 Baseline Types of administration included:
* By mouth
* Through a feeding tube
* Both (mouth and feeding tube)
* Through gastrostomyClinical Characteristic: Number of Patients Categorized by Type of Nutritional Supplementation Received by Mouth Baseline 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 pro...
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 Baseline Types of surgeries included:
* Growing rods lengthening
* Dorsal/lumbar dorsal arthrodesis
* Growing rodsClinical Characteristic: Number of Patients Categorized by Type of Joint Contracture Baseline Types of joint contractures included proximal and distal.
Clinical Characteristic: Number of Patients Who Reached Each Motor Development Milestone Baseline 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 kneesClinical Characteristic: Number of Patients Categorized by Relevant Surgical History in Addition to Scoliosis Surgery Related to SMA Categorized by Type of Surgery Baseline Surgeries included:
* Mouth surgery
* Tracheostomy
* Surgery for gastrostomy
* Tenotomy
* OtherNumber of Scheduled and Unscheduled Healthcare Visits per Patient per Year Up to 12 months 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 therapyTotal Number of Scheduled and Unscheduled Healthcare Visits per Patient per Year Up to 12 months Number of Scheduled and Unscheduled SMA-related Medical Visits Up to 12 months 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 specialistsNumber of SMA-related Emergency Room Visits Up to 12 months SMA-related emergency room visits included outpatient and hospital visits.
Number of SMA-related Hospitalizations Up to 12 months SMA-related hospitalizations included visits to day hospital, admissions to ward, intensive care unit admissions.
Number of Patients Categorized by Reason for Hospitalization Up to 12 months Hospitalization included admission to ward. Reason for hospitalization included related to treatment and not related to treatment.
Number of Patients Categorized by Reason for Admission to Intensive Care Unit (ICU) Up to 12 months Reason for admission to ICU included related to treatment and not related to treatment.
Number of Patients With a Multidisciplinary Follow-up Up to 12 months Number of Patients Categorized by Medical Areas Involved in Follow-up Up to 12 months Medical areas included:
* Pulmonology
* Endocrinology/nutrition
* Physical therapy
* Rehabilitation
* Logopedics
* Thoracic surgery
* Orthopedics
* OtherNumber of Patients Categorized by Type of Additional Tests Needed Up to 12 months 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 diagnosisNumber of Times Each Additional Test Was Performed Up to 12 months 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 diagnosisTotal Additional Tests Up to 12 months Number of Patients Categorized by Type of Treatment for SMA Up to 6 years and 4 months Treatments included:
* Nusinersen
* Risdiplam
* Onasemnogene abeparvovec
* Palivizumab
* Influenza vaccine
* Meningococcal vaccine
* High protein shakesNumber of Nusinersen Doses Up to 6 years and 4 months Nusinersen doses included loading and maintenance doses.
Risdiplam Dose Up to 6 years and 4 months Risdiplam dose included starting dose and dose changes.
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
Trial Locations
- Locations (1)
Novartis Pharmaceuticals
🇺🇸East Hanover, New Jersey, United States