Clinical trial NCT03339830: European Registry of Patients With Infantile-onset Spinal Muscular Atrophy
Official title: European Registry of Patients With Infantile-onset Spinal Muscular Atrophy
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Spinal Muscular Atrophy
Keywords: SMA
Spinal Muscular Atrophy
Neuromuscular disease
Spinraza
Lead sponsor: Institut de Myologie, France
Sponsor class: OTHER
First posted: 2017-11-13
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Neuromuscular reference centers

Brief summary: IO-SMA-Registry is a prospective, longitudinal and observational study which objective is to collect prospectively information on longevity, psychomotor development and respiratory function of patients with infantile-onset spinal muscular atrophy.


Eligibility criteria: Inclusion Criteria:

* Spinal Muscular Atrophy diagnosed in childhood (before 18 months) and genetically confirmed.
* For patients with SMA type 1: Never acquired independent sitting position (more than 30 seconds, without hand support or any external support)
* For patients with SMA type 2 or 3: Patient treated with a market approved treatment for SMA or with a treatment in an expanded access program
* Any age
* Patients over 18 years of age or parent(s)/legal guardian(s) of patients \< 18 years of age not opposed to data collection for research purposes

Exclusion Criteria:

* None

Primary outcomes:
measure: Change from Baseline in survival
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline in psychomotor development
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline in the number of lower track infections
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline in ventilation use
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline in cough assist use
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline in Forced Vital Capacity
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline in diurnal saturation
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline in nocturnal hypercapnia
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
Secondary outcomes:
measure: Change from the beginning of the treatment of psychomotor development
timeFrame: Since the beginning of the treatment until the end of the study, up to 5 years
measure: Change from the beginning of the treatment of the number of hospitalizations
timeFrame: Since the beginning of the treatment until the end of the study, up to 5 years
measure: Change from the beginning of the treatment of the duration of hospitalizations
timeFrame: Since the beginning of the treatment until the end of the study, up to 5 years
measure: Change from Baseline of Clinical Global Impressions - Improvement (CGI-I)
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of the scoliosis occurence
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of the arthrodesis occurence
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of contractures occurrence
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of wheelchair use
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of feeding status
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of speech impairment
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of Hammersmith Infant Neurological Examination (HINE) score
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of Motor Function Measure (MFM) score
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of Expanded Hammersmith Functional Motor Scale (HFMSE) score
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of the number of physiotherapy sessions per week
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of the number of balneotherapy sessions per week
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
measure: Change from Baseline of the number of occupational therapy sessions per week
timeFrame: Baseline and then every 6 months until the end of the study, up to 5 years
Other outcomes:
Locations:
city: Brest
country: France
facility: Hopital Morvan - CHU de Brest
city: Bron
country: France
facility: Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant
city: Dijon
country: France
facility: Hôpital le Bocage - CHU Dijon
city: Lille
country: France
facility: Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro
city: Paris
country: France
facility: I-Motion Institute
city: Toulouse
country: France
facility: Unité de neurologie pédiatrique - Hôpital des enfants
Study officials:
affiliation: Institute of Myology
name: Laurent Servais, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: