European Registry of Patients With Infantile-onset Spinal Muscular Atrophy

• Sponsor: Institut de Myologie, France (Other)
• Overall Status: Completed
• CT.gov ID: NCT03339830
• Collaborator: (none)
• Enrollment: 100
• Locations: 6
• Actual Duration (Months): 37.2
• Patients Per Site: 16.7
• Patients Per Site Per Month: 0.4

Study Details

Study Description

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	Intervention/Treatment	Phase
Spinal Muscular Atrophy

Study Design

• Study Type: Observational [Patient Registry]
• Actual Enrollment: 100 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: European Registry of Patients With Infantile-onset Spinal Muscular Atrophy
• Actual Study Start Date: Oct 10, 2017
• Actual Primary Completion Date: Nov 15, 2020
• Actual Study Completion Date: Nov 15, 2020

Outcome Measures

Primary Outcome Measures

1. Change from Baseline in survival [Baseline and then every 6 months until the end of the study, up to 5 years]

2. Change from Baseline in psychomotor development [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 [Baseline and then every 6 months until the end of the study, up to 5 years]

4. Change from Baseline in ventilation use [Baseline and then every 6 months until the end of the study, up to 5 years]

5. Change from Baseline in cough assist use [Baseline and then every 6 months until the end of the study, up to 5 years]

6. Change from Baseline in Forced Vital Capacity [Baseline and then every 6 months until the end of the study, up to 5 years]

7. Change from Baseline in diurnal saturation [Baseline and then every 6 months until the end of the study, up to 5 years]

8. Change from Baseline in nocturnal hypercapnia [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 [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 [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 [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) [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 [Baseline and then every 6 months until the end of the study, up to 5 years]

6. Change from Baseline of the arthrodesis occurence [Baseline and then every 6 months until the end of the study, up to 5 years]

7. Change from Baseline of contractures occurrence [Baseline and then every 6 months until the end of the study, up to 5 years]

8. Change from Baseline of wheelchair use [Baseline and then every 6 months until the end of the study, up to 5 years]

9. Change from Baseline of feeding status [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 [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 [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 [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 [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 [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 [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 [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 [Baseline and then every 6 months until the end of the study, up to 5 years]

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Hopital Morvan - CHU de Brest	Brest		France
2	Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant	Bron		France
3	Hôpital le Bocage - CHU Dijon	Dijon		France
4	Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro	Lille		France
5	I-Motion Institute	Paris		France
6	Unité de neurologie pédiatrique - Hôpital des enfants	Toulouse		France

Sponsors and Collaborators

• Institut de Myologie, France

Investigators

• Principal Investigator: Laurent Servais, MD, PhD, Institute of Myology

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Institut de Myologie, France
• ClinicalTrials.gov Identifier: NCT03339830
• Other Study ID Numbers: IO-SMA-Registry; 2017-A02291-52
• First Posted: Nov 13, 2017
• Last Update Posted: Sep 13, 2021
• Last Verified: Sep 1, 2021

• Individual Participant Data (IPD) Sharing Statement: Undecided
• Plan to Share IPD: Undecided
• 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: Muscular Atrophy; Muscular Atrophy, Spinal; Atrophy

Study Results

No Results Posted as of Sep 13, 2021