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Clinical trial information and results are updated daily from ClinicalTrials.gov. The latest data update was conducted on 01/22/2021.

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

Clinicaltrials.gov identifier NCT03946384

Recruitment Status Not yet recruiting

First Posted May 10, 2019

Last update posted May 10, 2019

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:Hemophilia B
  • Intervention/Treatment: Other: data collection
  • Phase: N/A
Detailed Description

N/A

Study Design
  • 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
Groups and Cohorts
Groups/Cohorts 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 [ Time Frame: Through study completion, an average of 4 months ]
    bleeding phenotype in patients with p.Ile112Thr in factor IX gene
Eligibility Criteria
  • 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
Contacts

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

Locations

France
CHU Dijon Bourgogne
Dijon

Sponsors and Collaborators

Centre Hospitalier Universitaire Dijon

More Information
  • Responsible Party: Centre Hospitalier Universitaire Dijon
  • ClinicalTrials.gov Identifier: NCT03946384 History of Changes
  • Other Study ID Numbers: BOVET 2019
  • First Posted: May 10, 2019 Key Record Dates
  • Last Update Posted: May 10, 2019
  • Last Verified: May 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