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

• Sponsor: Centre Hospitalier Universitaire Dijon (Other)
• Overall Status: Unknown status
• CT.gov ID: NCT03946384
• Collaborator: (none)
• Enrollment: 12
• Location: 1
• Anticipated Duration (Months): 4
• Patients Per Site Per Month: 3

Study Details

Study Description

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	Phase
Hemophilia B	Other: data collection

Study Design

• Study Type: Observational
• Anticipated Enrollment: 12 participants
• Observational Model: Cohort
• Time Perspective: Retrospective
• Official Title: Discrepancy Between Factor IX Level and Bleeding Phenotype
• Anticipated Study Start Date: Jun 1, 2019
• Anticipated Primary Completion Date: Oct 1, 2019
• Anticipated Study Completion Date: Oct 1, 2019

Arms and Interventions

Arm	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

Primary Outcome Measures

1. Bleeding phenotype [Through study completion, an average of 4 months]

   bleeding phenotype in patients with p.Ile112Thr in factor IX gene

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Inclusion Criteria:

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

Exclusion Criteria: None

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	CHU Dijon Bourgogne	Dijon		France	21079

Sponsors and Collaborators

• Centre Hospitalier Universitaire Dijon

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Centre Hospitalier Universitaire Dijon
• ClinicalTrials.gov Identifier: NCT03946384
• Other Study ID Numbers: BOVET 2019
• First Posted: May 10, 2019
• Last Update Posted: May 10, 2019
• Last Verified: May 1, 2019

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Hemophilia B

Study Results

No Results Posted as of May 10, 2019