Markers of Defective Membrane Remodelling in Scott-like Syndromes

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by University Hospital, Strasbourg, France
Sponsor:
Collaborators:
Louis Pasteur University, Strasbourg
Institut National de la Santé Et de la Recherche Médicale, France
Aventis, Génopôle d'Evry.
Information provided by (Responsible Party):
University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier:
NCT00617721
First received: February 5, 2008
Last updated: September 4, 2014
Last verified: September 2014
  Purpose

Purpose: Identification of the gene(s) involved in plasma membrane remodelling. Identification of the circulating markers affected by the defective membrane remodelling in a collection of families with unexplained provoked hemorrhages and evaluation of their prognosis value in the assessment of the hemostatic cellular response.Hypothesis: Scott syndrome is rare a familial disorder characterized by provoked haemorrages in homozygous-type patients due to isolated membrane remodelling deficiency. Membrane remodelling is necessary for cellular hemostatic responses.


Condition Intervention
Unexplained Isolated Provoked Hemorrhages
Familial Bleeding Disorder
Scott Syndrome
Other: Blood withdrawal

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Defect in Cell Stimulation and Unexplained hemorrhagesMarkers Related to Membrane Remodelling in the Prognosis Scott-like Syndormes

Resource links provided by NLM:


Further study details as provided by University Hospital, Strasbourg, France:

Biospecimen Retention:   Samples With DNA

plasma, white cells, DNA (when the family is informative)


Estimated Enrollment: 125
Study Start Date: June 2008
Groups/Cohorts Assigned Interventions
1
patients with unexplained bleeding disorder
Other: Blood withdrawal
Observational study. Limited blood withdrawal. Any other intervention will be determined by the patient's clinical status.
2
healthy volunteers
Other: Blood withdrawal
Observational study. Limited blood withdrawal. Any other intervention will be determined by the patient's clinical status.

  Eligibility

Ages Eligible for Study:   2 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Patients with unexplained bleeding disorder

Criteria

Inclusion Criteria:

  • Patients with unexplained provoked hemorrhages (surgery, tooth extraction, birth …), and associated with reduced prothrombin consomption (residual prothrombine in serum > à 5%).
  • Family members of the patients defined above, with or without unexplained hemorrhages (symptomatic or not).
  • Patient's approval based on detailed information given by the pratician

Exclusion Criteria:

  • Patients with primary hemostasis defect or defective blood coagulation factor(s) possibly explaining the bleeding disorder.
  • Anémia,
  • patients known to be affected by Factor V New York .
  • Patients enrolled in a previous clinical study, the exclusion period of which is not yet completed. - Collaboration to the study rejected by the patient
  • Patients that are not registered for medical care social insurance.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00617721

Contacts
Contact: Florence TOTI, MD 33390243986 florence.toti@hemato-ulp.u-strasbg.fr
Contact: Jean-Marie FREYSSINET, MD 33390243986 jean-marie.freyssinet@hemato-ulp.u-strasbg.fr

Locations
France
Hôpital Antoine Béclère, Service d'Hématologie Biologique Not yet recruiting
Clamart, France, 92140
Contact: Catherine BOYER-NEUMANN, MD    33.3.1.45.37.43.05    cboyer.neumann@abc.aphp.fr   
Principal Investigator: Catherine BOYER-NEUMANN, MD         
Laboratoire d'Hémostase et d'Immunologie, Centre Hospitalier Not yet recruiting
Le Mans, France, 72037
Contact: Fabienne PINEAU-VINCENT, MD    33.2.43.43.27.78    fpineauvincent@ch-lemans.fr   
Principal Investigator: Fabienne PINEAU-VINCENT, MD         
Laboratoire d'Hématologie, Hôpital Robert Debré Not yet recruiting
Reims, France, 51092
Contact: Philippe NGUYEN, MD    33.3.26.78.38.71    pnguyen@chu-reims.fr   
Principal Investigator: Philippe NGUYEN, MD         
Laboratoire d'Hématologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg Recruiting
Strasbourg, France, 67098
Contact: Lélia GRUNEBAUM, MD    33388127528      
Principal Investigator: Lélia GRUNEBAUM, MD         
Sub-Investigator: Alice EISCHEN, MD         
Martinique
Service d'Hématologie Biologique, Hôpital Pierre Zobda Quitman Recruiting
Fort de France, Martinique, 97261
Contact: Claire GONIN, MD    33.3.5.96.55.22.79    claire.gonin@chu-fort-defrance.fr   
Principal Investigator: Claire GONIN, MD         
Sub-Investigator: Serge PIERRE-LOUIS, MD         
Sub-Investigator: Yves PLUMELLE, MD         
Sponsors and Collaborators
University Hospital, Strasbourg, France
Louis Pasteur University, Strasbourg
Institut National de la Santé Et de la Recherche Médicale, France
Aventis, Génopôle d'Evry.
Investigators
Principal Investigator: Lélia GRUNEBAUM, MD Hôpitaux Universitaires de Strasbourg
  More Information

No publications provided

Responsible Party: University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier: NCT00617721     History of Changes
Other Study ID Numbers: 3930
Study First Received: February 5, 2008
Last Updated: September 4, 2014
Health Authority: France: Ministry of Health

Keywords provided by University Hospital, Strasbourg, France:
Defective gene(s) in plasma membrane remodelling.
Scott syndrome,
Reduced prothrombin consumption,
Circulating biomakers of scott syndrome

Additional relevant MeSH terms:
Blood Coagulation Disorders
Hemorrhage
Hemostatic Disorders
Syndrome
Cardiovascular Diseases
Disease
Hematologic Diseases
Hemorrhagic Disorders
Pathologic Processes
Vascular Diseases

ClinicalTrials.gov processed this record on October 23, 2014