Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of Platelets

NCT01957345 | Completed

• 2 other identifiers: 12 068 08PHRCI 2012
• Study Type: interventional
• Target: 322
• Locations: 1 country
• Sites: 1

Brief Summary

The primary purpose of the study is to evaluate a standardized method of screening for platelet signalling defects in patients with constitutional disorders of platelet function of unknown origin. We hypothesize that such defects are under-diagnosed in patients, due to heavy workup and requirement of relatively large blood sample by conventional biochemical methods. We propose to analyse kinase signalling downstream platelet membrane receptors using multiplex flow cytometry quantification and fluorescent platelet barcoding.

Conditions

Platelet Dysfunction

Keywords

constitutional functional disorders of platelets; platelet signalling defects

Outcome Measures

Primary Outcomes (1)

• standardise the method between clinical laboratories

  This is a pilot study of a new approach of screening platelet signalling pathways disorders by flow cytometry with methodological primary outcomes (12) as follows: 1)to standardise the method between clinical laboratories, 2)to establish reference values of the method and 3)to design a quality control assessment The primary endpoint will focus on the overall variability of reference values observed in subjects without thrombopathy for each marker after agonist stimulation and corresponding search of an effect if a center-center effect is observed on the reference values its origin will be sought (deviation from the protocol, reagent lot .....) and corrected. The "center effect" will also be analyzed by the quarterly quality control, which will compare the results obtained from the same wafer tests analyzed simultaneously in three sites.

  3 years

Secondary Outcomes (1)

• To describe the signalling pathways in platelet disorders

  3 years

Study Arms (3)

bleeding disorder

OTHER

Blood punction at patients with bleeding disorder definitely other than of platelet origin (e.g. "low" von Willebrand)

Other: Blood punction

constitutional platelet disorder

OTHER

Blood punction at patients with constitutional platelet disorder (e.g. Glanzmann thrombasthenia)

Other: Blood punction

defect of platelet function

OTHER

Blood punction at patients with defect of platelet function of unknown origin, potentially defective in signalling pathway.

Other: Blood punction

Interventions

Blood punction OTHER

T1 and T2: one blood punction with signalisation test (T1 for each arm, T2 at +6 months only if an anomaly at signalisation test is detected) signalisation test is made by flow cytometry Stage 1: for arm "bleeding disorder" : flow cytometry analysis to establish reference values observed in subjects without thrombopathy for each marker after agonist stimulation and corresponding search of an effect if a center-center effect is observed on the reference values its origin will be sought and corrected. Stage 2: for the two others arms: Several markers will be analyzed, corresponding to routes or levels of different signaling. For each of these markers, the test will evaluate quantitatively the phosphorylation activity of the protein tested.

bleeding disorder; constitutional platelet disorder; defect of platelet function

Eligibility Criteria

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

You may qualify if:

• patient consulting for hemorrhagic symptomatology with a bleeding disorder definitely other than of platelet origin (e.g. "low" von Willebrand) / or constitutional platelet disorder (e.g. Glanzmann thrombasthenia) / or with a defect of platelet function of unknown origin, potentially defective in signalling pathway.
• Informed consent form
• patient with social security insurance or equivalent

You may not qualify if:

• treatment interfering with platelets function within 7 days prior to enrollment
• thrombocytopenia \<100G/L
• pregnant or lactating females
• subjects under juridical protection guardianship or tutelage measure
• subjects involved in another clinical trial

Sponsors & Collaborators

• University Hospital, Toulouse: lead

Study Sites (1)

University Hospital Toulouse

Toulouse, 31000, France

Location

Related Publications (1)

• Garcia C, Dejean S, Savy N, Bordet JC, Series J, Cadot S, Ribes A, Voisin S, Rugeri L, Payrastre B, Sie P. Multicolor flow cytometry in clinical samples for platelet signaling assessment. Res Pract Thromb Haemost. 2023 May 16;7(4):100180. doi: 10.1016/j.rpth.2023.100180. eCollection 2023 May.

  PMID: 37538502 RESULT

Study Officials

• Pierre SIE, MD PhD

  University Hospital, Toulouse

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 18, 2013
• First Posted: October 8, 2013
• Study Start: February 1, 2013
• Primary Completion: June 29, 2017
• Study Completion: June 29, 2017
• Last Updated: December 10, 2025

Record last verified: 2019-04

Locations

FR (1)