Markers of Defective Membrane Remodelling in Scott-Like Syndromes

This study is currently recruiting participants.

Verified by University Hospital, Strasbourg, France, December 2008

First Received: February 5, 2008 Last Updated: December 4, 2008 History of Changes

Sponsors and Collaborators:	University Hospital, Strasbourg, France Louis Pasteur University, Strasbourg INSERM, U.770 Aventis, Génopôle d'Evry.
Information provided by:	University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier:	NCT00617721

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

U.S. FDA Resources

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

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

Biospecimen Retention: Samples With DNA

Biospecimen Description:

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

Estimated Enrollment:	125
Study Start Date:	June 2008
Estimated Study Completion Date:	October 2011
Estimated Primary Completion Date:	October 2010 (Final data collection date for primary outcome measure)

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

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
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
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'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
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

INSERM, U.770

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 ( Emmanuel LAVOUE, Directeur Adjoint de la DRCI )
Study ID Numbers:	3930
Study First Received:	February 5, 2008
Last Updated:	December 4, 2008
ClinicalTrials.gov Identifier:	NCT00617721 History of Changes
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

Study placed in the following topic categories:

Thrombin
Scott Syndrome
Hemorrhage

Additional relevant MeSH terms:

Disease
Pathologic Processes
Syndrome
Hemorrhage

ClinicalTrials.gov processed this record on May 07, 2009