Preimplantation genetic testing for monogenic disease (neonatal infammatory skin and bowel disease 1)

Preimplantation genetic testing for monogenic disease (neonatal infammatory skin and bowel disease 1) - Preimplantation genetic testing for monogenic disease (neonatal infammatory skin and bowel disease 1)

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

JPRN

Registry ID

JPRN-UMIN000050389

Enrollment

Registered

2023-03-27

Start date

2023-04-01

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

neonatal infammatory skin and bowel disease 1

Interventions

trophectoderm biopsy, DNA extraction, whole genome amplification and genetic testing for ADAM17 gene

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: compound heterozygous of ADAM17 missense

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
delivery of a baby without neonatal infammatory skin and bowel disease 1	—

Countries

Japan

Contacts

Public ContactYuri Yamamoto

tokushima university hospital Obstetrics and Gynecology

yamamoto.yuri@tokushima-u.ac.jp+81886337177

Outcome results

None listed

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