Markers of Defective Membrane Remodelling in Scott-like Syndromes
- Conditions
- Familial Bleeding DisorderScott SyndromeUnexplained 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
- 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
- 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
Group Intervention Description 1 Blood withdrawal patients with unexplained bleeding disorder 2 Blood withdrawal healthy volunteers
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method
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