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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03946384
Recruitment Status : Unknown
Verified May 2019 by Centre Hospitalier Universitaire Dijon.
Recruitment status was:  Not yet recruiting
First Posted : May 10, 2019
Last Update Posted : May 10, 2019
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon

Study Description
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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.

Condition or disease Intervention/treatment
Hemophilia B Other: data collection

Study Design
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Study Type : Observational
Estimated Enrollment : 12 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Discrepancy Between Factor IX Level and Bleeding Phenotype
Estimated Study Start Date : June 2019
Estimated Primary Completion Date : October 2019
Estimated Study Completion Date : October 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Bleeding

Groups and Cohorts
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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


Outcome Measures
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Primary Outcome Measures :
  1. Bleeding phenotype [ Time Frame: Through study completion, an average of 4 months ]
    bleeding phenotype in patients with p.Ile112Thr in factor IX gene


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Hemophilia B
Criteria

Inclusion Criteria:

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

Exclusion Criteria: None

Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03946384


Contacts
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Contact: Julien BOVET 3.80.29.33.14 ext +33 julien.bovet@chu-dijon.fr

Locations
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France
CHU Dijon Bourgogne
Dijon, France, 21079
Contact: Julien BOVET    3.80.29.33 14 ext +33    julien.bovet@chu-dijon.fr   
Contact: Celine ROW    3.80.29.37.28 ext +33    celine.row@chu-dijon.fr   
Sponsors and Collaborators
Centre Hospitalier Universitaire Dijon
More Information
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Responsible Party: Centre Hospitalier Universitaire Dijon
ClinicalTrials.gov Identifier: NCT03946384    
Other Study ID Numbers: BOVET 2019
First Posted: May 10, 2019    Key Record Dates
Last Update Posted: May 10, 2019
Last Verified: May 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Hemophilia B
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hematologic Diseases
 Coagulation Protein Disorders
Hemorrhagic Disorders
Genetic Diseases, Inborn
Genetic Diseases, X-Linked