Mutation p.Ile112Thr : Discrepancy Between Factor IX Leve... | NCT03946384

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

NCT03946384

Sponsor

Centre Hospitalier Universitaire Dijon

Status

Unknown status

Last Update Posted

May 10, 2019Actual

Enrollment

12Estimated

Phase

Not provided

Conditions

Hemophilia B

Interventions

data collection

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

May 2019

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Not yet recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 2019Estimated

Primary Completion Date

Oct 2019Estimated

Completion Date

Oct 2019Estimated

First Submitted Date

May 9, 2019

First Submission Date that Met QC Criteria

May 9, 2019

First Posted Date

May 10, 2019Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

May 9, 2019

Last Update Posted Date

May 10, 2019Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

12Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
patients		Hemophilia B with p.Ile112Thr mutation on factor IX gene	Other: data collection

Interventions

Name	Type	Description	Arm Group Labels	Other Names
data collection	Other	data collection on the history of the disease, hemophilia	patients

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

hemophilia B with p.Ile112Thr mutation on factor IX gene

Exclusion Criteria: None

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Hemophilia B

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Julien BOVET	Contact	3.80.29.33.14	+33	julien.bovet@chu-dijon.fr

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
CHU Dijon Bourgogne		Dijon		21079	France

Condition Browse Module

MeSH Terms

ID	Term
D002836	Hemophilia B

Ancestor Terms

ID	Term
D025861	Blood Coagulation Disorders, Inherited
D001778	Blood Coagulation Disorders
D006402	Hematologic Diseases
D006425	Hemic and Lymphatic Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D003625	Data Collection

Ancestor Terms

ID	Term
D004812	Epidemiologic Methods
D008919	Investigative Techniques
D017531	Health Care Evaluation Mechanisms
D011787	Quality of Health Care

Browse Leaves

Not provided

Browse Branches

Not provided