NCT03946384

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
12

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jun 2019

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

May 9, 2019

Completed
1 day until next milestone

First Posted

Study publicly available on registry

May 10, 2019

Completed
22 days until next milestone

Study Start

First participant enrolled

June 1, 2019

Completed
4 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 1, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2019

Completed
Last Updated

May 10, 2019

Status Verified

May 1, 2019

Enrollment Period

4 months

First QC Date

May 9, 2019

Last Update Submit

May 9, 2019

Conditions

Hemophilia B

Outcome Measures

Primary Outcomes (1)

  • Bleeding phenotype

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

    Through study completion, an average of 4 months

Study Arms (1)

patients

Hemophilia B with p.Ile112Thr mutation on factor IX gene

Other: data collection

Interventions

data collectionOTHER

data collection on the history of the disease, hemophilia

patients

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Hemophilia B

You may qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CHU Dijon Bourgogne

Dijon, 21079, France

Location

MeSH Terms

Conditions

Hemophilia B

Interventions

Data Collection

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, InheritedBlood Coagulation DisordersHematologic DiseasesHemic and Lymphatic DiseasesCoagulation Protein DisordersHemorrhagic DisordersGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, X-Linked

Intervention Hierarchy (Ancestors)

Epidemiologic MethodsInvestigative TechniquesHealth Care Evaluation MechanismsQuality of Health CareHealth Care Quality, Access, and EvaluationPublic HealthEnvironment and Public Health

Central Study Contacts

Julien BOVET

CONTACT

3.80.29.33.14julien.bovet@chu-dijon.fr

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 9, 2019

First Posted

May 10, 2019

Study Start

June 1, 2019

Primary Completion

October 1, 2019

Study Completion

October 1, 2019

Last Updated

May 10, 2019

Record last verified: 2019-05

Locations

FR(1)