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Study of the Pathophysiological Mechanisms Involved in Bleeding Events

NCT01314560 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 30

Last updated 2025-11-20

No results posted yet for this study

Summary

Lowe syndrome is associated with mutations in the OCRL1 gene, which encodes OCRL1, a phosphatidylinositol-4, 5-bisphosphate (PtdIns(4, 5)P (2))5-phosphatase. PtdIns(4, 5)P2, a substrate of OCRL1, is an important signaling molecule within the cell. An abnormal rate of hemorrhagic events was found in a retrospective clinical survey, suggesting platelet dysfunction.

The main objective of the study is to confirm the presence of platelet dysfunction in Lowe syndrome and to characterize this abnormality.

Conditions

  • Oculocerebrorenal Syndrome

Interventions

OTHER

Blood sample

Blood sample

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Geneviève Baujat, MD, PhD · Hôpital Necker Enfants Malades, Paris

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
6 Years
Max Age
45 Years
Sex
MALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2009-02-28
Primary Completion
2010-07-31
Completion
2010-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01314560 on ClinicalTrials.gov