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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.
 
ClinicalTrials.gov 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
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon

Tracking Information
First Submitted Date August 23, 2017
First Posted Date August 28, 2017
Last Update Posted Date August 28, 2017
Actual Study Start Date October 2016
Estimated Primary Completion Date October 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 25, 2017)
Germline mutations that cause Hereditary Erythrocytosis/Idiopathic Erythrocytosis [ Time Frame: at baseline ]
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 Genomic Screening for Hereditary Erythrocytosis and Related Diseases
Official Title Genomic Screening for Hereditary Erythrocytosis and Related Diseases
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.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Hereditary Erythrocytosis/Idiopathic Erythrocytosis
Condition Hereditary Erythrocytosis/Idiopathic Erythrocytosis
Intervention Not Provided
Study Groups/Cohorts Not Provided
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
 (submitted: August 25, 2017)
150
Original Estimated Enrollment Same as current
Estimated Study Completion Date October 2020
Estimated Primary Completion Date October 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
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 NCT03263364
Other Study ID Numbers GIRODON PRTS 2015
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
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 August 2017