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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

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.

Condition or disease
Spinal Muscular Atrophy

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: European Registry of Patients With Infantile-onset Spinal Muscular Atrophy
Actual Study Start Date : October 10, 2017
Estimated Primary Completion Date : December 1, 2022
Estimated Study Completion Date : December 1, 2022





Primary Outcome Measures :
  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 Outcome Measures :
  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 ]


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Neuromuscular reference centers
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03339830


Contacts
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Contact: Mélanie Annoussamy, PhD +33171738393 m.annoussamy@institut-myologie.org

Locations
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France
Hopital Morvan - CHU de Brest Recruiting
Brest, France
Contact: Juliette Ropars, M.D.         
Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant Recruiting
Bron, France
Contact: Carole Vuillerot, M.D.         
Hôpital le Bocage - CHU Dijon Not yet recruiting
Dijon, France
Contact: Mondher Chouchane, M.D.         
Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro Recruiting
Lille, France
Contact: Jean-Marie Cuisset, M.D.         
I-Motion Institute Recruiting
Paris, France
Contact: Karolina Aragon, MD       k.aragon@institut-myologie.org   
Contact: Ilhan Said Ali       i.said-ali@institut-myologie.org   
Principal Investigator: Laurent Servais, MD, PhD         
Unité de neurologie pédiatrique - Hôpital des enfants Recruiting
Toulouse, France
Contact: Claude Cances, M.D.         
Sponsors and Collaborators
Institut de Myologie, France
Investigators
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Principal Investigator: Laurent Servais, MD, PhD Institute of Myology

Additional Information:

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Responsible Party: Institut de Myologie, France
ClinicalTrials.gov Identifier: NCT03339830     History of Changes
Other Study ID Numbers: IO-SMA-Registry
2017-A02291-52 ( Other Identifier: ANSM (French Regulatory Authority) )
First Posted: November 13, 2017    Key Record Dates
Last Update Posted: January 24, 2018
Last Verified: January 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Institut de Myologie, France:
SMA
Spinal Muscular Atrophy
Neuromuscular disease
Spinraza
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases