Study on genotype and phenotype relation by genome analysis of responsible gene region in SMA

Study on genotype and phenotype relation by genome analysis of responsible gene region in SMA - Study on genotype and phenotype relation by genome analysis of responsible gene region in SMA

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000040095

Enrollment

1000

Registered

2020-04-07

Start date

2020-03-01

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

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: DNA samples from patients having SMA under the written consent for research use covering the current study

Exclusion criteria

Exclusion criteria: DNA samples from patients who were confirmed without SMA DNA samples without demographic data including age, SMA type, age at onset and maximum and current motor function

Design outcomes

Primary

Measure	Time frame
Investigate theSMN1 gene deletions/mutations throughout Exon/Intron 1 to 8 in types III/IV SMA.	—

Secondary

Measure	Time frame
Investigate theSMN1 gene deletions/mutations throughout Exon/Intron 1 to 8 in types I/II 5qSMA.	—

Countries

Japan

Contacts

Public ContactKayoko Saito

Tokyo Women's Medical University Institute of Medical Genetics

saito.kayoko@twmu.ac.jp03-3353-8111

Outcome results