NCT03946384

Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype

Discrepancy Between Factor IX Level and Bleeding Phenotype

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 12 (estimated)
• Sponsor: Centre Hospitalier Universitaire Dijon · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

It appears that the mutation p.Ile112Thr in the factor IX gene confers a discrepancy between mild factor IX level and severe bleeding phenotype. Databases and litterature analysis are poor on this matter. The goal of this study is to compile bleeding phenotype in patients with this specific mutation to prove the clinico-biological discordance in order to improve patient care and follow-up.

Conditions

• Hemophilia B

Interventions

Type	Name	Description
OTHER	data collection	data collection on the history of the disease, hemophilia

Timeline

• Start date: 2019-06-01
• Primary completion: 2019-10-01
• Completion: 2019-10-01
• First posted: 2019-05-10
• Last updated: 2019-05-10

Locations

1 site across 1 country: France