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Natural History of Spinal Muscular Atrophy Type 1 in Taiwan

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ClinicalTrials.gov Identifier: NCT02466529
Recruitment Status : Completed
First Posted : June 9, 2015
Last Update Posted : June 22, 2017
Sponsor:
Collaborators:
Information provided by (Responsible Party):

Study Description
Brief Summary:

Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations of the survival motor neuron 1 (SMN1) gene.

The investigators will conduct a systematic review of the contents and activities collected via a comprehensive case report form. Patients who fulfilled diagnostic criteria for SMA type 1 will be reviewed retrospectively.


Condition or disease
Natural History of Type 1 Spinal Muscular Atrophy (SMA)

Detailed Description:
The primary objective of this study is to investigate the natural history of patients with spinal muscular atrophy (SMA) type 1 in Taiwan. This study will provide further insights into the clinical course and pathogenesis of SMA. Several analyses will be conducted regarding overall survival, respiratory support, feeding and nutritional support. The following outcome variables will be examined: correlation between SMA genotype and phenotype, survival, age of onset, and age of confirmed diagnosis, proportion of patients using non-invasive and invasive respiratory support, time to first use of respiratory support, proportion of patients on permanent ventilation, and time to permanent ventilation, number and average duration of hospitalizations, proportion of patients with gastrostomy, number of non-serious and serious respiratory infections, trend of growth parameter (e.g., body weight).

Study Design

Study Type : Observational
Actual Enrollment : 111 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
Study Start Date : June 2015
Primary Completion Date : December 2015
Study Completion Date : December 2015


Groups and Cohorts

Group/Cohort
type 1 spinal muscular atrophy
The age of onset of patients with type 1 SMA is below 6 months of age.


Outcome Measures

Primary Outcome Measures :
  1. Age of death [ Time Frame: up to 36 years ]
    participants will be followed till the age of death


Secondary Outcome Measures :
  1. Age of permanent ventilation [ Time Frame: up to 36 years ]
    participants will be followed till ventilation used 24 hours/day


Other Outcome Measures:
  1. Clinical outcome with the following measures-1 [ Time Frame: up to 36 years ]
    Age of onset

  2. Clinical outcome with the following measures-2 [ Time Frame: up to 36 years ]
    Copy numbers of SMN2 gene

  3. Clinical outcome with the following measures-3 [ Time Frame: up to 36 years ]
    Methods of Nutritional Supportive

  4. Clinical outcome with the following measures-4 [ Time Frame: up to 36 years ]
    Methods of Respiratory Supportive


Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 36 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Spinal muscular atrophy Type 1
Criteria

Inclusion Criteria:

  • Jan. 1979~ 30 Jun. 2014 diagnosed with Spinal Muscular Atrophy (SMA)Type 1
  • Onset of paralytic floppy infant less than 6 months of age
  • Generalized hypotonia and symmetric weakness, which weakness is more severe in proximal than distal part of extremities
  • Weakness in the legs is greater than in the arms
  • Tendon reflexes are absent
  • Neurogenic changes in electromyogram and/or muscle pathology
  • SMN1 gene deletion or mutation

Exclusion Criteria:

  • Non-5q SMA (no deletion or mutation of SMN1 gene)
  • SMA type 2, type 3 or type 4 (onset of SMA after 6 months of age)
More Information

Responsible Party: Kaohsiung Medical University Chung-Ho Memorial Hospital
ClinicalTrials.gov Identifier: NCT02466529     History of Changes
Other Study ID Numbers: SMA-NHR10311
First Posted: June 9, 2015    Key Record Dates
Last Update Posted: June 22, 2017
Last Verified: February 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Kaohsiung Medical University Chung-Ho Memorial Hospital:
type 1 spinal muscular atrophy (SMA)

Additional relevant MeSH terms:
Atrophy
Muscular Atrophy
Muscular Atrophy, Spinal
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