Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype
- Conditions
- Hemophilia B
- Interventions
- Other: data collection
- Registration Number
- NCT03946384
- Lead Sponsor
- Centre Hospitalier Universitaire Dijon
- Brief 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 12
Inclusion Criteria
- hemophilia B with p.Ile112Thr mutation on factor IX gene
Exclusion Criteria
None
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description patients data collection Hemophilia B with p.Ile112Thr mutation on factor IX gene
- Primary Outcome Measures
Name Time Method Bleeding phenotype Through study completion, an average of 4 months bleeding phenotype in patients with p.Ile112Thr in factor IX gene
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
CHU Dijon Bourgogne
🇫🇷Dijon, France