Markers of Defective Membrane Remodelling in Scott-like Syndromes

Defect in Cell Stimulation and Unexplained hemorrhagesMarkers Related to Membrane Remodelling in the Prognosis Scott-like Syndormes

Status

Terminated

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00617721

Enrollment

Registered

2008-02-18

Start date

2008-06-30

Completion date

Unknown

Last updated

2016-06-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Familial Bleeding Disorder, Scott Syndrome, Unexplained Isolated Provoked Hemorrhages

Keywords

Defective gene(s) in plasma membrane remodelling., Scott syndrome,, Reduced prothrombin consumption,, Circulating biomakers of scott syndrome

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.

Interventions

OTHERBlood withdrawal

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

Study design

Observational model

FAMILY_BASED

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Years to 80 Years

Healthy volunteers

Yes

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.

Countries

France, Martinique

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026