Natural History of Types 2 and 3 SMA in Taiwan

NCT03300869 | Unknown

• 1 other identifier: SMA_RV
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

The primary objective of this study is to investigate the natural history of spinal muscular atrophy (SMA) types 2 and 3 patients in Taiwan. This study will provide further insights into the clinical course SMA. Several analyses will be conducted regarding overall survival, demographic characteristics, motor function, respiratory and nutritional support, and genotype and phenotype correlation.

Conditions

Spinal Muscular Atrophy

Keywords

Spinal Muscular Atrophy; Natural History

Outcome Measures

Primary Outcomes (1)

• Describe the correlation of genotype and phenotype in SMA types 2 and 3

  Genotype is defined by SMN 2 copy number(s) and phenotype is defined by clinical types and characteristics.

  through study completion, an average of 2 years

Secondary Outcomes (4)

• Disease onset in patients with SMA types 2 and 3

  through study completion, an average of 2 years

• Disease mortality in patients with SMA types 2 and 3

  through study completion, an average of 2 years

• Scoliosis in patients with SMA types 2 and 3

  through study completion, an average of 2 years

• BiPAP usage in patients with SMA types 2 and 3

  through study completion, an average of 2 years

Eligibility Criteria

• Age: 6 Months - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

In the past decades, The SMA is a rare disease (incidence of 1 in every 6,000-10,000 live births) with a carrier frequency of about 1 in 40-50 people. Therefore, individual countries have small cohorts of affected patients.

You may qualify if:

• Patients are diagnosed with SMA types 2 or 3
• Generalized hypotonia and muscle weakness, weakness of the legs is greater than the arms, and the proximal part is weaker than distal part of extremities.
• SMN1 gene deletion or mutation and/or neurogenic changes in electromyogram and/or muscle pathology.

You may not qualify if:

• Non-5q SMA (no deletion or mutation of SMN1 gene) patients.
• Type 1 SMA patients.

Sponsors & Collaborators

• Kaohsiung Medical University Chung-Ho Memorial Hospital: lead
• Biogen: collaborator
• National Taiwan University Hospital: collaborator
• Mackay Memorial Hospital: collaborator
• China Medical University Hospital: collaborator
• Changhua Christian Hospital: collaborator
• Chang Gung Memorial Hospital: collaborator

Study Sites (1)

Kaohsiung Medical University Chung-Ho Memorial Hospital

Kaohsiung City, 807, Taiwan

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Central Study Contacts

Yun-Hui Chou

CONTACT

+886972977320; wendychou3@gmail.com

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 13, 2017
• First Posted: October 4, 2017
• Study Start: September 1, 2017
• Primary Completion: December 1, 2019
• Study Completion: December 1, 2019
• Last Updated: July 26, 2019

Record last verified: 2019-07

Data Sharing

• IPD Sharing: Will not share

Locations

TW (1)