RETROSPECTIVE COHORT STUDY OF THE NATURAL HISTORY OF TYPE 1 SPINAL MUSCULAR ATROPHY USING MEDICAL RECORD DATA
Not Applicable
Completed
- Conditions
- Spinal Muscular Atrophy
- Registration Number
- JPRN-jRCT1080224067
- Lead Sponsor
- F. Hoffmann-La Roche, Ltd., Chugai Pharmaceutical
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- completed
- Sex
- All
- Target Recruitment
- 160
Inclusion Criteria
First Signs or symptoms attributable to type-1 SMA (including hypotonia, absent deep tendon reflex and/or tongue fasciculations) between 28 days and 3 months of age;
- Genetic confirmation of homozygous deletion or compound heterozygosity predictive of loss of function of the SMN1 gene; and
- Confirmed SMN2 copy number 2 or unknown SMN2 copy number.
Exclusion Criteria
Not provided
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method other<br>other(To describe the natural history)<br>extracting from patients medical records
- Secondary Outcome Measures
Name Time Method other<br>other(To describe the natural history)<br>extracting from patients medical records