Identification of Molecular Defects in Idiopathic Cytopenia of Undetermined Significance

NCT02804984 | Unknown

• 1 other identifier: PI2014_843_0008
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

The project's objective is to identify and characterize somatic mutations in cases of idiopathic cytopenia of undetermined significance (ICUS) on the basis of molecular defects found in myelodysplastic syndrome (MDS), in order to validate the hypothesis whereby ICUS may be a precursor of MDS

Conditions

Myelodysplastic Syndromes

Keywords

idiopathic cytopenia of undetermined significance (ICUS); molecular defects

Outcome Measures

Primary Outcomes (1)

• high-throughput sequencing

  The presence or absence of one or several of the following molecular defects, as detected by high-throughput sequencing: DNMT3A, TET2, IDH1/2, ASXL1, EZH2, RUNX1, EVI1, GATA2, P53, JAK2, CBL, KRAS, SF3B1, SRSF2, U2AF1, and ZRSR2.

  Day 0

Secondary Outcomes (3)

• phenotypic defects

  Day 0

• growth of erythroid progenitors

  Day 0

• Appearance of MDS

  6 months

Study Arms (1)

ICUS

idiopathic cytopenia of undetermined significance (ICUS)

Genetic: ICUS

Interventions

ICUS GENETIC

ICUS

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

patients with myelodysplastic syndrome

You may qualify if:

• Age 18 or over.
• Haemoglobin \<11 g/dl and/or a polynuclear neutrophil count \<1.5.109/L and/or a platelet count \<100.109/L
• Full clinical biochemistry/haematological profiling: complete blood count, blood smear, reticulocyte count, iron status, folates, B12, TSH, creatinine, liver enzymes, ANAs, rheumatoid factor, anticardiolipin antibodies, Coombs test, EPO assay, serological tests for HIV, HVB and HVC.
• Availability of a bone marrow differential cell count and an evaluation of myelopoiesis disorders (number of lineages, percentage of cells affected, etc.) plus Perls staining.
• Availability of a cytogenetic analysis.
• Voluntary provision of written, informed consent
• Life expectancy \>6 months
• Social security coverage

You may not qualify if:

• An obvious cause of anaemia (if isolated): iron deficiency, chronic kidney failure (clearance \<60 ml/min), regenerative anaemia (reticulocytes \>150G/L)
• Vitamin B12 or B9 deficiency
• Hepatomegaly, or clinical and/or ultrasound signs of portal hypertension
• Clinical and/or ultrasound signs of splenomegaly
• Abnormal liver enzyme levels: total bilirubin, alkaline phosphatases or transaminases \> 1.5N; gammaGT \> 2N. A history of (or diagnostic criteria during screening) auto-immune diseases such as systemic erythematous lupus, antiphospholipid syndrome or Evans syndrome.
• An abnormal bone marrow differential cell count
• A bone marrow karyotype revealing MDS
• Medical, psychological or social conditions that prevent the participant from correctly understanding the study procedures.
• Legal guardianship and incarceration.

Sponsors & Collaborators

• Centre Hospitalier Universitaire, Amiens: lead

Study Sites (1)

CHU Amiens

Amiens, 80054, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

* blood * bone marrow

MeSH Terms

Conditions

Myelodysplastic Syndromes

Condition Hierarchy (Ancestors)

Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases

Study Officials

• Bérengère GRUSON, PhD

  CHU Amiens

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Bérengère GRUSON, PhD

CONTACT

+33 3 22 45 59 85; gruson.berengere@chu-amiens.fr

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 15, 2016
• First Posted: June 17, 2016
• Study Start: July 1, 2015
• Primary Completion: July 1, 2019
• Study Completion: July 1, 2019
• Last Updated: August 3, 2018

Record last verified: 2018-08

Locations

FR (1)