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Genomic Screening for Hereditary Erythrocytosis and Related Diseases (GENRED)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03263364
Recruitment Status : Unknown
Verified August 2017 by Centre Hospitalier Universitaire Dijon.
Recruitment status was:  Recruiting
First Posted : August 28, 2017
Last Update Posted : August 28, 2017
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon

Brief 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.

Condition or disease
Hereditary Erythrocytosis/Idiopathic Erythrocytosis

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Study Type : Observational
Estimated Enrollment : 150 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genomic Screening for Hereditary Erythrocytosis and Related Diseases
Actual Study Start Date : October 2016
Estimated Primary Completion Date : October 2020
Estimated Study Completion Date : October 2020

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Germline mutations that cause Hereditary Erythrocytosis/Idiopathic Erythrocytosis [ Time Frame: at baseline ]

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Hereditary Erythrocytosis/Idiopathic Erythrocytosis

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 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

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03263364

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Contact: François GIRODON 0380293031 ext +33

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CHU Dijon Bourgogne Recruiting
Dijon, France, 21079
Contact: François GIRODON    03 80 29 30 31 ext +33   
CHU de NANTES Recruiting
Nantes, France, 44093
Contact: Stéphane BEZIEAU         
Sponsors and Collaborators
Centre Hospitalier Universitaire Dijon
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Responsible Party: Centre Hospitalier Universitaire Dijon Identifier: NCT03263364    
Other Study ID Numbers: GIRODON PRTS 2015
First Posted: August 28, 2017    Key Record Dates
Last Update Posted: August 28, 2017
Last Verified: August 2017

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Hematologic Diseases