Markers of Defective Membrane Remodelling in Scott-like Syndromes

University Hospital, Strasbourg, France

Status

Terminated

Conditions

Familial Bleeding Disorder

Scott Syndrome

Unexplained Isolated Provoked Hemorrhages

Treatments

Other: Blood withdrawal

Study type

Observational

Funder types

Other

Identifiers

NCT00617721

3930

Details and patient eligibility

About

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.

Enrollment

29 patients

Sex

All

Ages

2 to 80 years old

Volunteers

Accepts Healthy Volunteers

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.