Natural History of Spinal Muscular Atrophy Type 1 in Taiwan

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.

Study Overview

• Status: Completed
• Conditions: 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 Type: Observational
• Enrollment (Actual): 111

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 36 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Spinal muscular atrophy Type 1

Description

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)

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Retrospective

Number of groups / cohorts

1

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Age of death	participants will be followed till the age of death	up to 36 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Age of permanent ventilation	participants will be followed till ventilation used 24 hours/day	up to 36 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical outcome with the following measures-1	Age of onset	up to 36 years
Clinical outcome with the following measures-2	Copy numbers of SMN2 gene	up to 36 years
Clinical outcome with the following measures-3	Methods of Nutritional Supportive	up to 36 years
Clinical outcome with the following measures-4	Methods of Respiratory Supportive	up to 36 years

Collaborators and Investigators

• Sponsor: Kaohsiung Medical University Chung-Ho Memorial Hospital
• Collaborators: National Taiwan University Hospital; Mackay Memorial Hospital; Shin Kong Wu Ho-Su Memorial Hospital; China Medical University Hospital; Chang Gung Memorial Hospital; Buddhist Tzu Chi General Hospital; Taipei Veterans General Hospital, Taiwan; Biogen; National Cheng-Kung University Hospital; Taipei Medical University Hospital; Taipei Medical University Shuang Ho Hospital; Taipei Medical University WanFang Hospital; Kaohsiung Medical University; Changhua Christian Hospital; Taichung Veterans General Hospital; Kaohsiung Veterans General Hospital.; Chi Mei Medical Hospital; Cathay General Hospital; Chung Shan Medical University

Study record dates

Study Major Dates

• Study Start: June 1, 2015
• Primary Completion (Actual): December 1, 2015
• Study Completion (Actual): December 1, 2015

Study Registration Dates

• First Submitted: June 2, 2015
• First Submitted That Met QC Criteria: June 4, 2015
• First Posted (Estimate): June 9, 2015

Study Record Updates

• Last Update Posted (Actual): June 22, 2017
• Last Update Submitted That Met QC Criteria: June 20, 2017
• Last Verified: February 1, 2017

More Information

Terms related to this study

• Keywords: type 1 spinal muscular atrophy (SMA)
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: SMA-NHR10311

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No