Hemophilia BHémophilie BNCT03946384
Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype
An observational study of Hemophilia B, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hemophilia B
- What is being tested?
- data collection
- How many people
- 12 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2019to Oct 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Hemophilia B
Who may be able to join
- hemophilia B with p.Ile112Thr mutation on factor IX gene
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
France1 site
CHU Dijon Bourgogne
Dijon, 21079
Julien BOVET, 3.80.29.33 14 ext. +33, julien.bovet@chu-dijon.fr
Celine ROW, 3.80.29.37.28 ext. +33, celine.row@chu-dijon.fr
About this study
Official title: Discrepancy Between Factor IX Level and Bleeding Phenotype
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.
- Conditions
- Hemophilia B
- Being tested
- data collection
- Medical subject headings
- Hemophilia B
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
data collectionOther
data collection on the history of the disease, hemophilia
| Study group | Role | What they receive |
|---|---|---|
| patients | Hemophilia B with p.Ile112Thr mutation on factor IX gene Receives: Other: data collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Bleeding phenotype
bleeding phenotype in patients with p.Ile112Thr in factor IX gene
Measured: Through study completion, an average of 4 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 May 2019
- Study startJun 2019 (estimated)
- Primary completionOct 2019 (estimated)
- Study completionOct 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hemophilia BStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire DijonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 12 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire Dijon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03946384
- Sponsor's protocol ID
- BOVET 2019
- Acronym
- Hémophilie B
- Status last verified
- May 2019
- First submitted
- 9 May 2019
- Last updated
- 10 May 2019
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 May 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Discrepancy Between Factor IX Level and Bleeding Phenotype
- ClinicalTrials.gov ID
- NCT03946384
- Acronym / sponsor ID
- Hémophilie B / BOVET 2019
- Conditions
- Hemophilia B
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 12 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- Jun 2019 (estimated)
- Primary completion
- Oct 2019 (estimated)
- Study completion
- Oct 2019 (estimated)
- First posted
- 10 May 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patients | – | Other: data collectionHemophilia B with p.Ile112Thr mutation on factor IX gene |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Hemophilia B
Key inclusion criteria (1 listed)
- hemophilia B with p.Ile112Thr mutation on factor IX gene
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| data collectiondata collection on the history of the disease, hemophilia | Other | patients |
Primary outcome
Bleeding phenotype
Time frame: Through study completion, an average of 4 months
bleeding phenotype in patients with p.Ile112Thr in factor IX gene
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 May 2019.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hemophilia B, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 10 May 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Julien BOVET (3.80.29.33.14 ext. +33, julien.bovet@chu-dijon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Bleeding phenotype (time frame: Through study completion, an average of 4 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 May 2019.