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Completed

NCT Number: NCT03339830

European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

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.

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Key information

Conditions

Spinal Muscular Atrophy Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Hopital Morvan - CHU de Brest, Brest, France

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Change from Baseline in survival

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  2. Change from Baseline in psychomotor development

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

    Motor milestones acquired and/or lost

  3. Change from Baseline in the number of lower track infections

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  4. Change from Baseline in ventilation use

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  5. Change from Baseline in cough assist use

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  6. Change from Baseline in Forced Vital Capacity

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  7. Change from Baseline in diurnal saturation

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  8. Change from Baseline in nocturnal hypercapnia

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Secondary outcomes

  1. Change from the beginning of the treatment of psychomotor development

    Time frame: Since the beginning of the treatment until the end of the study, up to 5 years

    Retrospective and prospective collection of data from patients/parents interview and medical files Motor milestones acquired and/or lost

  2. Change from the beginning of the treatment of the number of hospitalizations

    Time frame: Since the beginning of the treatment until the end of the study, up to 5 years

    Retrospective and prospective collection of data from patients/parents interview and medical files

  3. Change from the beginning of the treatment of the duration of hospitalizations

    Time frame: Since the beginning of the treatment until the end of the study, up to 5 years

    Retrospective and prospective collection of data from patients/parents interview and medical files

  4. Change from Baseline of Clinical Global Impressions - Improvement (CGI-I)

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

    Quantification of patient progress and treatment response over time

  5. Change from Baseline of the scoliosis occurence

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  6. Change from Baseline of the arthrodesis occurence

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  7. Change from Baseline of contractures occurrence

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  8. Change from Baseline of wheelchair use

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  9. Change from Baseline of feeding status

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

    Feeding difficulties (swallowing, chewing, sucking), excessive drooling, need of a feeding tube, occurrence of gastrostomy

  10. Change from Baseline of speech impairment

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

    Speech incapacity, voice tone disorders

  11. Change from Baseline of Hammersmith Infant Neurological Examination (HINE) score

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  12. Change from Baseline of Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  13. Change from Baseline of Motor Function Measure (MFM) score

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  14. Change from Baseline of Expanded Hammersmith Functional Motor Scale (HFMSE) score

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  15. Change from Baseline of the number of physiotherapy sessions per week

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  16. Change from Baseline of the number of balneotherapy sessions per week

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

  17. Change from Baseline of the number of occupational therapy sessions per week

    Time frame: Baseline and then every 6 months until the end of the study, up to 5 years

Sponsors and collaborators

Lead sponsor

Institut de Myologie, France

Other

Registry information

Important dates

Study start
2017
Primary completion
2020
Study completion
2020
First posted
Nov 13, 2017
Registry last updated
Sep 13, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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