Markers of Defective Membrane Remodelling in Scott-like Syndromes

Brief Title

Markers of Defective Membrane Remodelling in Scott-like Syndromes

Official Title

Defect in Cell Stimulation and Unexplained hemorrhagesMarkers Related to Membrane Remodelling in the Prognosis Scott-like Syndormes

Brief Summary

      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.
    



Study Type

Observational




Condition

Unexplained Isolated Provoked Hemorrhages

Intervention

Blood withdrawal

Study Arms / Comparison Groups

 1
Description:  patients with unexplained bleeding disorder

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

29

Start Date

June 2008



Eligibility 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.
      

Gender

All

Ages

2 Years - 80 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Lélia GRUNEBAUM, MD, , 

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT00617721

Organization ID

3930


Responsible Party

Sponsor

Study Sponsor

University Hospital, Strasbourg, France

Collaborators

 Louis Pasteur University, Strasbourg

Study Sponsor

Lélia GRUNEBAUM, MD, Principal Investigator, Hôpitaux Universitaires de Strasbourg


Verification Date

June 2016