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Markers of Defective Membrane Remodelling in Scott-like Syndromes

Terminated
Conditions
Familial Bleeding Disorder
Scott Syndrome
Unexplained Isolated Provoked Hemorrhages
Interventions
Other: Blood withdrawal
Registration Number
NCT00617721
Lead Sponsor
University Hospital, Strasbourg, France
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.

Detailed Description

Not available

Recruitment & Eligibility

Status
TERMINATED
Sex
All
Target Recruitment
29
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.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
1Blood withdrawalpatients with unexplained bleeding disorder
2Blood withdrawalhealthy volunteers
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (5)

Hôpital Antoine Béclère, Service d'Hématologie Biologique

🇫🇷

Clamart, France

Laboratoire d'Hémostase et d'Immunologie, Centre Hospitalier

🇫🇷

Le Mans, France

Laboratoire d'Hématologie, Hôpital Robert Debré

🇫🇷

Reims, France

Laboratoire d'Hématologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg

🇫🇷

Strasbourg, France

Service d'Hématologie Biologique, Hôpital Pierre Zobda Quitman

🇲🇶

Fort de France, Martinique

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