Markers of Defective Membrane Remodelling in Scott-like Syndromes
NCT00617721 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 29
Last updated 2016-06-17
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.
Conditions
- Unexplained Isolated Provoked Hemorrhages
- Familial Bleeding Disorder
- Scott Syndrome
Interventions
- OTHER
-
Blood withdrawal
Observational study. Limited blood withdrawal. Any other intervention will be determined by the patient's clinical status.
Sponsors & Collaborators
-
Louis Pasteur University, Strasbourg
collaborator OTHER -
Institut National de la Santé Et de la Recherche Médicale, France
collaborator OTHER_GOV -
Aventis, Génopôle d'Evry.
collaborator UNKNOWN -
University Hospital, Strasbourg, France
lead OTHER
Principal Investigators
-
Lélia GRUNEBAUM, MD · Hôpitaux Universitaires de Strasbourg
Eligibility
- Min Age
- 2 Years
- Max Age
- 80 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2008-06-30
Countries
- France
- Martinique
Study Locations
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