Markers of Defective Membrane Remodelling in Scott-like Syndromes

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

29 participants

Study Classification

OBSERVATIONAL

Study Start Date

2008-06-30

Brief Summary

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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.

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Detailed Description

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Conditions

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Unexplained Isolated Provoked Hemorrhages Familial Bleeding Disorder Scott Syndrome

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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1

patients with unexplained bleeding disorder

Blood withdrawal

Intervention Type OTHER

Observational study. Limited blood withdrawal. Any other intervention will be determined by the patient's clinical status.

2

healthy volunteers

Blood withdrawal

Intervention Type OTHER

Observational study. Limited blood withdrawal. Any other intervention will be determined by the patient's clinical status.

Interventions

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Blood withdrawal

Observational study. Limited blood withdrawal. Any other intervention will be determined by the patient's clinical status.

Intervention Type OTHER

Eligibility Criteria

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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.

Minimum Eligible Age

2 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes