Natural History of Types 2 and 3 SMA in Taiwan

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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03300869

Enrollment

300

Registered

2017-10-04

Start date

2017-09-01

Completion date

2019-12-31

Last updated

2019-07-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Spinal Muscular Atrophy

Keywords

Spinal Muscular Atrophy, Natural History

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.

Detailed 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.

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

6 Months to 70 Years

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
Describe the correlation of genotype and phenotype in SMA types 2 and 3	through study completion, an average of 2 years	Genotype is defined by SMN 2 copy number(s) and phenotype is defined by clinical types and characteristics.

Secondary

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

Countries

Taiwan

Contacts

Primary ContactYun-Hui Chou

wendychou3@gmail.com+886972977320

Outcome results