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

Discrepancy Between Factor IX Level and Bleeding Phenotype

Status
UNKNOWN
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT03946384
Acronym
Hémophilie B
Enrollment
12
Registered
2019-05-10
Start date
2019-06-30
Completion date
2019-10-31
Last updated
2019-05-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hemophilia B

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.

Interventions

OTHERdata collection

data collection on the history of the disease, hemophilia

Sponsors

Centre Hospitalier Universitaire Dijon
Lead SponsorOTHER

Study design

Observational model
COHORT
Time perspective
RETROSPECTIVE

Eligibility

Sex/Gender
ALL
Healthy volunteers
No

Inclusion criteria

* hemophilia B with p.Ile112Thr mutation on factor IX gene

Exclusion criteria

None

Design outcomes

Primary

MeasureTime frameDescription
Bleeding phenotypeThrough study completion, an average of 4 monthsbleeding phenotype in patients with p.Ile112Thr in factor IX gene

Countries

France

Contacts

Primary ContactJulien BOVET
julien.bovet@chu-dijon.fr3.80.29.33.14

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026