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European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

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ClinicalTrials.gov Identifier: NCT03339830
Recruitment Status : Recruiting
First Posted : November 13, 2017
Last Update Posted : January 24, 2018
Sponsor:
Information provided by (Responsible Party):
Institut de Myologie, France

Tracking Information
First Submitted Date October 18, 2017
First Posted Date November 13, 2017
Last Update Posted Date January 24, 2018
Actual Study Start Date October 10, 2017
Estimated Primary Completion Date December 1, 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: November 7, 2017)
  • Change from Baseline in survival [ Time Frame: Baseline and then every 6 months until the end of the study, up to 5 years ]
  • 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
  • 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 ]
  • Change from Baseline in ventilation use [ Time Frame: Baseline and then every 6 months until the end of the study, up to 5 years ]
  • 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 ]
  • 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 ]
  • Change from Baseline in diurnal saturation [ Time Frame: Baseline and then every 6 months until the end of the study, up to 5 years ]
  • Change from Baseline in nocturnal hypercapnia [ Time Frame: Baseline and then every 6 months until the end of the study, up to 5 years ]
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: November 7, 2017)
  • 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
  • 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
  • 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
  • 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
  • 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 ]
  • 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 ]
  • Change from Baseline of contractures occurrence [ Time Frame: Baseline and then every 6 months until the end of the study, up to 5 years ]
  • Change from Baseline of wheelchair use [ Time Frame: Baseline and then every 6 months until the end of the study, up to 5 years ]
  • 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
  • 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
  • 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 ]
  • 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 ]
  • 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 ]
  • 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 ]
  • 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 ]
  • 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 ]
  • 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 ]
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title European Registry of Patients With Infantile-onset Spinal Muscular Atrophy
Official Title European Registry of Patients With Infantile-onset Spinal Muscular Atrophy
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.
Detailed Description Not Provided
Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 5 Years
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Neuromuscular reference centers
Condition Spinal Muscular Atrophy
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: November 7, 2017)
100
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 1, 2022
Estimated Primary Completion Date December 1, 2022   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Mélanie Annoussamy, PhD +33171738393 m.annoussamy@institut-myologie.org
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03339830
Other Study ID Numbers IO-SMA-Registry
2017-A02291-52 ( Other Identifier: ANSM (French Regulatory Authority) )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Institut de Myologie, France
Study Sponsor Institut de Myologie, France
Collaborators Not Provided
Investigators
Principal Investigator: Laurent Servais, MD, PhD Institute of Myology
PRS Account Institut de Myologie, France
Verification Date January 2018