RETROSPECTIVE COHORT STUDY OF THE NATURAL HISTORY OF TYPE 1 SPINAL MUSCULAR ATROPHY USING MEDICAL RECORD DATA

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-jRCT1080224067

Enrollment

160

Registered

2018-09-25

Start date

2018-09-25

Completion date

Unknown

Last updated

2026-06-29

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

Conditions

Spinal Muscular Atrophy

Interventions

investigational material(s) Generic name etc : - INN of investigational material : - Therapeutic category code : --- Other Dosage and Administration for Investigational material : - control material(

Eligibility

Sex/Gender

All

Inclusion criteria

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

Exclusion criteria: -

Design outcomes

Primary

Measure	Time frame
other other(To describe the natural history) extracting from patients medical records	—

Secondary

Measure	Time frame
other other(To describe the natural history) extracting from patients medical records	—

Countries

Asia except Japan, Europe, Japan, North America, Oceania, South America

Outcome results

None listed

Source: JPRN (via WHO ICTRP) · Data processed: Jul 3, 2026