Clinical trial NCT03300869: Natural History of Types 2 and 3 SMA in Taiwan
Official title: Natural History of Types 2 and 3 Spinal Muscular Atrophy in Taiwan
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Spinal Muscular Atrophy
Keywords: Spinal Muscular Atrophy
Natural History
Lead sponsor: Kaohsiung Medical University Chung-Ho Memorial Hospital
Sponsor class: OTHER
Collaborators: name: Biogen
name: National Taiwan University Hospital
name: Mackay Memorial Hospital
name: China Medical University Hospital
name: Changhua Christian Hospital
name: Chang Gung Memorial Hospital
First posted: 2017-10-04
Enrollment: 300
Sex: ALL
Minimum age (years): 6
Maximum age (years): 70
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: RETROSPECTIVE
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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Describe the correlation of genotype and phenotype in SMA types 2 and 3
timeFrame: through study completion, an average of 2 years
Secondary outcomes:
measure: Disease onset in patients with SMA types 2 and 3
timeFrame: through study completion, an average of 2 years
measure: Disease mortality in patients with SMA types 2 and 3
timeFrame: through study completion, an average of 2 years
measure: Scoliosis in patients with SMA types 2 and 3
timeFrame: through study completion, an average of 2 years
measure: BiPAP usage in patients with SMA types 2 and 3
timeFrame: through study completion, an average of 2 years
Other outcomes:
Locations:
city: Kaohsiung
country: Taiwan
facility: Kaohsiung Medical University Chung-Ho Memorial Hospital
Study officials:
References: