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Preimplantion testing for monogenic disease(congenital myopathy)

Preimplantaion testing for monogenic disease(congenital myopathy) - Preimplantation testing for monogenic disease(congenital myopathy)

Status
Active, not recruiting
Phases
Unknown
Study type
Interventional
Source
JPRN
Registry ID
JPRN-UMIN000054244
Enrollment
1
Registered
2024-07-01
Start date
2024-06-01
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

congenital myopathy

Interventions

trophectderm biopsy, DNA extraction, whole genome, genetic testing for SCN4A

Sponsors

Tokushima University
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: compound heterozygous of SCN4A

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

MeasureTime frame
delivery to a baby without congenital myopathy

Countries

Japan

Contacts

Public ContactYuri Yamamoto

Tokushima University Hospital Obstetrics and Gynecology

yamamoto.yuri@tokushima-u.ac.jp0886337177

Outcome results

None listed

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