UnknownNot Applicable

Genomic Screening for Hereditary Erythrocytosis and Related Diseases

France150 participantsStarted 2016-10

Plain-language 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. 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.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: 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. Exclusion Criteria: 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 be…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Germline mutations that cause Hereditary Erythrocytosis/Idiopathic Erythrocytosis

Timeframe: at baseline

Trial details

NCT IDNCT03263364

SponsorCentre Hospitalier Universitaire Dijon

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2020-10

Contact for this trial

François GIRODON

0380293031 francois.girodon@chu-dijon.fr

View on ClinicalTrials.gov More Hereditary Erythrocytosis/Idiopathic Erythrocytosis trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.