Brief Title
Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype
Official Title
Discrepancy Between Factor IX Level and Bleeding Phenotype
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.
Study Type
Observational
Primary Outcome
Bleeding phenotype
Condition
Hemophilia B
Intervention
data collection
Study Arms / Comparison Groups
patients
Description: Hemophilia B with p.Ile112Thr mutation on factor IX gene
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Other
Estimated Enrollment
12
Start Date
June 2019
Completion Date
October 2019
Primary Completion Date
October 2019
Eligibility Criteria
Inclusion Criteria: - hemophilia B with p.Ile112Thr mutation on factor IX gene Exclusion Criteria: None
Gender
All
Ages
N/A - N/A
Accepts Healthy Volunteers
No
Contacts
, 3.80.29.33.14, [email protected]
Location Countries
France
Location Countries
France
Administrative Informations
NCT ID
NCT03946384
Organization ID
BOVET 2019
Responsible Party
Sponsor
Study Sponsor
Centre Hospitalier Universitaire Dijon
Study Sponsor
, ,
Verification Date
May 2019