Spinal Muscular Atrophy Type I, Spinal Muscular Atrophy Type II
Conditions
Brief summary
An observational, retrospective, cross-sectional, multicenter study. Real-world data were obtained from medical records of Spanish public hospitals (9 hospitals).
Interventions
None listed
Sponsors
Novartis
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 14 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 * 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 |
| 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 * Total additional tests |
| 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
| Measure | Time frame | Description |
|---|---|---|
| Sociodemographic: Weight | Baseline | — |
| 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) * Patient's primary 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 death |
| 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 * 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 |
| 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 months |
| Clinical 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 * ICD-10 G12.9: Spinal muscular atrophy, unspecified |
| 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 diagnosis |
| Clinical 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 mutation |
| Clinical 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 * Other |
| Clinical Characteristic: Number of Patients Categorized by Family History of SMA | Baseline | Family history categories included: * Yes * No * Mother * Father * Both parents * Brothers and sisters * Other |
| Clinical 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 intent |
| 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 | Baseline | Types of administration included: * By mouth * Through a feeding tube * Both (mouth and feeding tube) * Through gastrostomy |
| Clinical 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 protein). |
| 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 rods |
| Clinical 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 knees |
| Clinical 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 * Other |
| Number 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 therapy |
| 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 | 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 specialists |
| Number 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 * Other |
| Number 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 diagnosis |
| Number 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 diagnosis |
| 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 shakes |
| Number of Nusinersen Doses | Up to 6 years and 4 months | Nusinersen doses included loading and maintenance doses. |
| Sociodemographic: Height | Baseline | — |
| 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 | — |
| Risdiplam Dose | Up to 6 years and 4 months | Risdiplam dose included starting dose and dose changes. |
| Sociodemographic: Body mass index (BMI) | Baseline | — |
| Total Additional Tests | Up to 12 months | — |
Countries
United States
Outcome results
None listed