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出境医 / 临床实验 / Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype (Hémophilie B)
Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype (Hémophilie B)
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 |
|---|---|
| Hemophilia B | Other: data collection |
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 |
Arms and Interventions
| 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
Primary Outcome Measures :
- 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, 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
| Tracking Information | |||||
|---|---|---|---|---|---|
| First Submitted Date | May 9, 2019 | ||||
| First Posted Date | May 10, 2019 | ||||
| Last Update Posted Date | May 10, 2019 | ||||
| Estimated Study Start Date | June 2019 | ||||
| Estimated Primary Completion Date | October 2019 (Final data collection date for primary outcome measure) | ||||
| Current Primary Outcome Measures |
Bleeding phenotype [ Time Frame: Through study completion, an average of 4 months ] bleeding phenotype in patients with p.Ile112Thr in factor IX gene
|
||||
| Original Primary Outcome Measures | Same as current | ||||
| Change History | No Changes Posted | ||||
| Current Secondary Outcome Measures | Not Provided | ||||
| Original Secondary Outcome Measures | Not Provided | ||||
| Current Other Pre-specified Outcome Measures | Not Provided | ||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||
| Descriptive Information | |||||
| Brief Title | Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype | ||||
| Official Title | Discrepancy Between Factor IX Level and Bleeding Phenotype | ||||
| 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 | ||||
| Study Type | Observational | ||||
| Study Design | Observational Model: Cohort Time Perspective: Retrospective |
||||
| Target Follow-Up Duration | Not Provided | ||||
| Biospecimen | Not Provided | ||||
| Sampling Method | Non-Probability Sample | ||||
| Study Population | Hemophilia B | ||||
| Condition | Hemophilia B | ||||
| Intervention | Other: data collection
data collection on the history of the disease, hemophilia
|
||||
| Study Groups/Cohorts | patients
Hemophilia B with p.Ile112Thr mutation on factor IX gene
Intervention: Other: data collection
|
||||
| Publications * | Not Provided | ||||
|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
|||||
| Recruitment Information | |||||
| Recruitment Status | Unknown status | ||||
| Estimated Enrollment |
12 | ||||
| Original Estimated Enrollment | Same as current | ||||
| Estimated Study Completion Date | October 2019 | ||||
| Estimated Primary Completion Date | October 2019 (Final data collection date for primary outcome measure) | ||||
| Eligibility Criteria |
Inclusion Criteria:
Exclusion Criteria: None |
||||
| Sex/Gender |
|
||||
| Ages | Child, Adult, Older Adult | ||||
| Accepts Healthy Volunteers | No | ||||
| Contacts | Contact information is only displayed when the study is recruiting subjects | ||||
| Listed Location Countries | France | ||||
| Removed Location Countries | |||||
| Administrative Information | |||||
| NCT Number | NCT03946384 | ||||
| Other Study ID Numbers | BOVET 2019 | ||||
| Has Data Monitoring Committee | Not Provided | ||||
| U.S. FDA-regulated Product |
|
||||
| IPD Sharing Statement | Not Provided | ||||
| Responsible Party | Centre Hospitalier Universitaire Dijon | ||||
| Study Sponsor | Centre Hospitalier Universitaire Dijon | ||||
| Collaborators | Not Provided | ||||
| Investigators | Not Provided | ||||
| PRS Account | Centre Hospitalier Universitaire Dijon | ||||
| Verification Date | May 2019 | ||||
