Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype (Hémophilie B)

May 9, 2019 updated by: Centre Hospitalier Universitaire Dijon

Discrepancy Between Factor IX Level and Bleeding Phenotype

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 Overview

Status

Unknown

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

12

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Dijon, France, 21079
        • Chu Dijon Bourgogne

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Hemophilia B

Description

Inclusion Criteria:

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

Exclusion Criteria: None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
patients
Hemophilia B with p.Ile112Thr mutation on factor IX gene
Other: data collection
data collection on the history of the disease, hemophilia

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Bleeding phenotype
Time Frame: Through study completion, an average of 4 months
bleeding phenotype in patients with p.Ile112Thr in factor IX gene
Through study completion, an average of 4 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire Dijon

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

June 1, 2019

Primary Completion (Anticipated)

October 1, 2019

Study Completion (Anticipated)

October 1, 2019

Study Registration Dates

First Submitted

May 9, 2019

First Submitted That Met QC Criteria

May 9, 2019

First Posted (Actual)

May 10, 2019

Study Record Updates

Last Update Posted (Actual)

May 10, 2019

Last Update Submitted That Met QC Criteria

May 9, 2019

Last Verified

May 1, 2019

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • BOVET 2019

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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