Natural History of Spinal Muscular Atrophy Type 1 in Taiwan

Natural History of Type 1 Spinal Muscular Atrophy (SMA) Clinical Trial

Official title:

Natural History of Spinal Muscular Atrophy Type 1 in Taiwan

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02466529
• Other study ID #: SMA-NHR10311
• Status: Completed
• Phase: N/A
• First received: June 2, 2015
• Last updated: June 20, 2017
• Start date: June 2015
• Est. completion date: December 2015

Study information

• Verified date: February 2017
• Source: Kaohsiung Medical University Chung-Ho Memorial Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 111
• Est. completion date: December 2015
• Est. primary completion date: December 2015
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 36 Years

Eligibility

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)

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Natural History of Type 1 Spinal Muscular Atrophy (SMA)

Locations

Country	Name	City	State
n/a

Sponsors (20)

Lead Sponsor

Collaborator

Kaohsiung Medical University Chung-Ho Memorial Hospital

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

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Clinical outcome with the following measures-1	Age of onset	up to 36 years
Other	Clinical outcome with the following measures-2	Copy numbers of SMN2 gene	up to 36 years
Other	Clinical outcome with the following measures-3	Methods of Nutritional Supportive	up to 36 years
Other	Clinical outcome with the following measures-4	Methods of Respiratory Supportive	up to 36 years
Primary	Age of death	participants will be followed till the age of death	up to 36 years
Secondary	Age of permanent ventilation	participants will be followed till ventilation used 24 hours/day	up to 36 years