Natural History of Types 2 and 3 SMA in Taiwan

Spinal Muscular Atrophy Clinical Trial

Official title:

Natural History of Types 2 and 3 Spinal Muscular Atrophy in Taiwan

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03300869
• Other study ID #: SMA_RV
• Status: Recruiting
• Start date: September 1, 2017
• Est. completion date: December 2019

Study information

• Verified date: July 2019
• Source: Kaohsiung Medical University Chung-Ho Memorial Hospital
• Contact: Yun-Hui Chou
• Phone: +886972977320
• Email: wendychou3[@]gmail.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

As with other rare diseases, individual groups of SMA have therefore opted to share patient information in the form of clinical sites to increase the overall patient cohorts on which clinical outcomes and new assisted-healthcare technologies can be assessed. Using the collaborative and retrospective study of types 2 and 3 SMA patients in Taiwan, the investigators aim to 1) characterize the correlation of genotype and phenotype, 2) correlate the onset, progression, management with disease outcome, 3) depict comorbidity and within type 2 and 3 SMA patients with different SMN2 copy number.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: December 2019
• Est. primary completion date: December 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Months to 70 Years

Eligibility

Inclusion Criteria:

1. Patients are diagnosed with SMA types 2 or 3

2. 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.

3. SMN1 gene deletion or mutation and/or neurogenic changes in electromyogram and/or muscle pathology.

Exclusion Criteria:

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

2. Type 1 SMA patients.

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy

Locations

Country	Name	City	State
Taiwan	Kaohsiung Medical University Chung-Ho Memorial Hospital	Kaohsiung

Sponsors (7)

Lead Sponsor	Collaborator
Kaohsiung Medical University Chung-Ho Memorial Hospital	Biogen, Chang Gung Memorial Hospital, Changhua Christian Hospital, China Medical University Hospital, Mackay Memorial Hospital, National Taiwan University Hospital

Country where clinical trial is conducted

Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Disease onset in patients with SMA types 2 and 3	Number of participants with disease onset as assessed by year	through study completion, an average of 2 years
Secondary	Disease mortality in patients with SMA types 2 and 3	Number of participants with disease mortality as assessed by year	through study completion, an average of 2 years
Secondary	Scoliosis in patients with SMA types 2 and 3	Number of participants with scoliosis as assessed by year	through study completion, an average of 2 years
Secondary	BiPAP usage in patients with SMA types 2 and 3	Number of participants with BiPAP usage as assessed by year	through study completion, an average of 2 years