Clinical trial NCT02466529: Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
Official title: Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Natural History of Type 1 Spinal Muscular Atrophy (SMA)
Keywords: type 1 spinal muscular atrophy (SMA)
Lead sponsor: Kaohsiung Medical University Chung-Ho Memorial Hospital
Sponsor class: OTHER
Collaborators: name: Biogen
name: Taipei Medical University WanFang Hospital
name: Taipei Veterans General Hospital, Taiwan
name: Mackay Memorial Hospital
name: Chang Gung Memorial Hospital
name: China Medical University Hospital
name: Chung Shan Medical University
name: Changhua Christian Hospital
name: Taichung Veterans General Hospital
name: Chi Mei Medical Hospital
name: Cathay General Hospital
name: Shin Kong Wu Ho-Su Memorial Hospital
name: Kaohsiung Veterans General Hospital.
name: National Cheng-Kung University Hospital
name: Buddhist Tzu Chi General Hospital
name: Kaohsiung Medical University
name: Taipei Medical University Shuang Ho Hospital
name: National Taiwan University Hospital
name: Taipei Medical University Hospital
First posted: 2015-06-09
Enrollment: 111
Sex: ALL
Maximum age (years): 36
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Spinal muscular atrophy Type 1

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.

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).

Eligibility 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)

Primary outcomes:
measure: Age of death
timeFrame: up to 36 years
Secondary outcomes:
measure: Age of permanent ventilation
timeFrame: up to 36 years
Other outcomes:
measure: Clinical outcome with the following measures-1
timeFrame: up to 36 years
measure: Clinical outcome with the following measures-2
timeFrame: up to 36 years
measure: Clinical outcome with the following measures-3
timeFrame: up to 36 years
measure: Clinical outcome with the following measures-4
timeFrame: up to 36 years
Locations:
Study officials:
References: