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

NCT03946384 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 12

Last updated 2019-05-10

No results posted yet for this study

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

OTHER

data collection

data collection on the history of the disease, hemophilia

Sponsors & Collaborators

  • Centre Hospitalier Universitaire Dijon

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-06-30
Primary Completion
2019-10-31
Completion
2019-10-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03946384 on ClinicalTrials.gov