Clinical trial NCT00617721: 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
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Unexplained Isolated Provoked Hemorrhages
Familial Bleeding Disorder
Scott Syndrome
Keywords: Defective gene(s) in plasma membrane remodelling.
Scott syndrome,
Reduced prothrombin consumption,
Circulating biomakers of scott syndrome
Lead sponsor: University Hospital, Strasbourg, France
Sponsor class: OTHER
Collaborators: name: Louis Pasteur University, Strasbourg
name: Institut National de la Santé Et de la Recherche Médicale, France
name: Aventis, Génopôle d'Evry.
First posted: 2008-02-18
Enrollment: 29
Sex: ALL
Minimum age (years): 2
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with unexplained bleeding disorder

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.


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.

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Clamart
country: France
facility: Hôpital Antoine Béclère, Service d'Hématologie Biologique
city: Le Mans
country: France
facility: Laboratoire d'Hémostase et d'Immunologie, Centre Hospitalier
city: Reims
country: France
facility: Laboratoire d'Hématologie, Hôpital Robert Debré
city: Strasbourg
country: France
facility: Laboratoire d'Hématologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg
city: Fort de France
country: Martinique
facility: Service d'Hématologie Biologique, Hôpital Pierre Zobda Quitman
Study officials:
affiliation: Hôpitaux Universitaires de Strasbourg
name: Lélia GRUNEBAUM, MD
role: PRINCIPAL_INVESTIGATOR
References: