Hereditary Erythrocytosis/Idiopathic ErythrocytosisGENREDNCT03263364
Genomic Screening for Hereditary Erythrocytosis and Related Diseases
An observational study of Hereditary Erythrocytosis/Idiopathic Erythrocytosis, run by Centre Hospitalier Universitaire Dijon at 2 sites in France.
Trial summary
Unexplained polycythemias are rare diseases, and therefore, the collection of data inherent to these diseases will not only improve their characterisation, but also allow stratification according to the risks and the course of the disease. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hereditary Erythrocytosis/Idiopathic Erythrocytosis
- How many people
- 150 participants
- Where
- 2 sitesFrance
- Study dates
- Oct 2016to Oct 2020
- 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: Hereditary Erythrocytosis/Idiopathic Erythrocytosis
Who may be able to join
- The characteristics of the patients included in the database will be described in terms of numbers and percentages for qualitative variables and in terms of means and standard deviations or medians and interquartile intervals for quantitative variables.
Who cannot join
- The first step will be to exclude acquired secondary (pulmonary, renal and cardiac) or acquired primary (polycythemia vera due to JAK2 mutations) causes. The family history and the determination of serum EPO levels are very useful in the decision regarding which molecular tests should be performed first.
- patients without absolute erythrocytosis (i.e. without an increased red cell mass >125% of mean predicted value, or if the haematocrit is <60% in males or <56% in females.
- erythrocytosis related to polycythemia vera according to the 2008 WHO (World Health Organization) criteria
- Secondary erythrocytosis related to an obvious cause (renal lesions, chronic lung or heart diseases, endocrine lesions, miscellaneous tumours producing EPO, drugs such as androgens, hepatic lesions…)
- Low venous blood p50: the determination of p50 (percentage at which Hb is half saturated with oxygen) is very helpful is establishing the presence of a haemoglobin variant with high oxygen affinity or a rare 2,3-diphosphoglycerate (2,3-DPG) deficiency. In such a situation, a specific HBB, HBA1 and HBA2 mutation will be screened for using Sanger sequencing (these genes are not included in NGS analysis because of redundancy of pseudogenes).
- In order to rule out non-informative erythrocytosis cases, a form including mandatory further tests must be filled in for a selection step. The required tests are: complete blood counts
Show all 14Show fewer
- Blood electrolytes
- Arterial and venous gazes
- Serum erythropoietin dosage
- Liver function tests
- JAK2 mutations (both V617F and exon 12)
- Bone marrow aspirate and/or biopsy and/or endogenous BFU-E culture
- Abdominal ultrasound
- Lung function tests
Trial locations and contacts
2 sites in 1 country.
France2 sites, 2 recruiting
- Recruiting
CHU Dijon Bourgogne
Dijon, 21079
François GIRODON, 03 80 29 30 31 ext. +33, francois.girodon@chu-dijon.fr
- Recruiting
CHU de NANTES
Nantes, 44093
Stéphane BEZIEAU
About this study
Unexplained polycythemias are rare diseases, and therefore, the collection of data inherent to these diseases will not only improve their characterisation, but also allow stratification according to the risks and the course of the disease. The objective of this project is to constitute a database on the disease which will allow us to better understand it and in due course improve its management.
The GENRED project thus bears uniquely on the collection of information, which will be gathered throughout the usual management of patients for this type of disease.
- Medical subject headings
- Polycythemia, primary familial and congenital
What is being measured
The primary outcome is the main question the study is designed to answer.
Germline mutations that cause Hereditary Erythrocytosis/Idiopathic Erythrocytosis
Measured: at baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Aug 2017
- Study startOct 2016
- Primary completionOct 2020 (estimated)
- Study completionOct 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Erythrocytosis/Idiopathic ErythrocytosisStudies 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
- Prospective
- Enrolment
- 150 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
- NCT03263364
- Sponsor's protocol ID
- GIRODON PRTS 2015
- Acronym
- GENRED
- Status last verified
- Aug 2017
- First submitted
- 23 Aug 2017
- Last updated
- 28 Aug 2017
- 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 28 Aug 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomic Screening for Hereditary Erythrocytosis and Related Diseases
- ClinicalTrials.gov ID
- NCT03263364
- Acronym / sponsor ID
- GENRED / GIRODON PRTS 2015
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- Oct 2016 (actual)
- Primary completion
- Oct 2020 (estimated)
- Study completion
- Oct 2020 (estimated)
- First posted
- 28 Aug 2017 (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.
Unexplained polycythemias are rare diseases, and therefore, the collection of data inherent to these diseases will not only improve their characterisation, but also allow stratification according to the risks and the course of the disease. The objective of this project is to constitute a database on the disease which will allow us to better understand it and in due course improve its management.
The GENRED project thus bears uniquely on the collection of information, which will be gathered throughout the usual management of patients for this type of disease.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Hereditary Erythrocytosis/Idiopathic Erythrocytosis
Key inclusion criteria (1 listed)
- The characteristics of the patients included in the database will be described in terms of numbers and percentages for qualitative variables and in terms of means and standard deviations or medians and interquartile intervals for quantitative variables.
Key exclusion criteria (14 listed)
- The first step will be to exclude acquired secondary (pulmonary, renal and cardiac) or acquired primary (polycythemia vera due to JAK2 mutations) causes. The family history and the determination of serum EPO levels are very useful in the decision regarding which molecular tests should be performed first.
- patients without absolute erythrocytosis (i.e. without an increased red cell mass >125% of mean predicted value, or if the haematocrit is <60% in males or <56% in females.
- erythrocytosis related to polycythemia vera according to the 2008 WHO (World Health Organization) criteria
- Secondary erythrocytosis related to an obvious cause (renal lesions, chronic lung or heart diseases, endocrine lesions, miscellaneous tumours producing EPO, drugs such as androgens, hepatic lesions…)
- Low venous blood p50: the determination of p50 (percentage at which Hb is half saturated with oxygen) is very helpful is establishing the presence of a haemoglobin variant with high oxygen affinity or a rare 2,3-diphosphoglycerate (2,3-DPG) deficiency. In such a situation, a specific HBB, HBA1 and HBA2 mutation will be screened for using Sanger sequencing (these genes are not included in NGS analysis because of redundancy of pseudogenes).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Germline mutations that cause Hereditary Erythrocytosis/Idiopathic Erythrocytosis
Time frame: at baseline
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Aug 2017.
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.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Erythrocytosis/Idiopathic Erythrocytosis, run by Centre Hospitalier Universitaire Dijon at 2 sites 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 14 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 28 Aug 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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 François GIRODON (0380293031 ext. +33, francois.girodon@chu-dijon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Germline mutations that cause Hereditary Erythrocytosis/Idiopathic Erythrocytosis (time frame: at baseline). 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 28 Aug 2017.