Study of the Pathophysiological Mechanisms Involved in Bleeding Events

NCT01314560 | Completed

• 1 other identifier: P071008
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Lowe syndrome; OCRL; Haemostasis; Bleeding Disorders; Platelet Function Tests

Outcome Measures

Primary Outcomes (1)

• The platelet function will be evaluated by comparing the intensity of platelet responses obtained in patient and controls

  The platelet function will be evaluated by comparing the intensity of platelet responses obtained in patient and controls. Various platelet responses will be studied: * The measurement of platelet closure time by PFA100 * Aggregation, retraction, secretion and adhesion

  18 months

Secondary Outcomes (1)

• Characterization of abnormalities in platelet-signalling pathways

  18 months

Study Arms (1)

1

EXPERIMENTAL

experimental

Other: Blood sample

Interventions

Blood sample OTHER

Blood sample

1

Eligibility Criteria

• Age: 6 Years - 45 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Patient with a clinical syndrome of Lowe (congenital cataracts, renal tubular dysfunction and neuromuscular damage) with a molecular defect in the gene known OCRL1.
• For the centre of Necker, patients should have a weight\> 10 kg. For the centre of Toulouse site, patients should have a weight\> 40 kg.
• No alteration of glomerular function (creatinine clearance\> 30 ml/min/1.73m ²)
• No significant anemia (hematocrit\> 25%, hemoglobin\> 8 g / L)
• Every patient should have included a signed informed consent. For minor patients, the consent of parents or legal guardian must be obtained.
• Patients may be included only if they receive social security coverage or CMU

You may not qualify if:

• Weight less than 10 kg for the centre of Necker
• Weight less than 40 kg for the centre of Toulouse
• Major renal insufficiency (creatinine clearance \<30 ml/min/1.73m ²)
• Profound anemia (hematocrit \<25%, Hb \<8g/dl)
• Patients taking drugs interfering with hemostasis in the eight days before the survey
• Patients with major behavior disorder making it difficult to achieve the blood sample, despite the nitrous oxide
• Patients with a other pathology of hemostasis (hemophilia, thrombotic disease)
• Participation in another clinical study requiring a blood sample within 4 weeks
• Contraindication to EMLA patch: confers Summary of Product Characteristics.
• Contraindication to KALINOX: confers Summary of Product Characteristics.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Necker Enfants Malades Hospital, Genetic

Paris, 75015, France

Location

Related Publications (1)

• Egot M, Lasne D, Poirault-Chassac S, Mirault T, Pidard D, Dreano E, Elie C, Gandrille S, Marchelli A, Baruch D, Rendu J, Faure J, Flaujac C, Gratacap MP, Sie P, Gaussem P, Salomon R, Baujat G, Bachelot-Loza C. Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome. Br J Haematol. 2021 Mar;192(5):909-921. doi: 10.1111/bjh.17346. Epub 2021 Feb 2.

  PMID: 33528045 RESULT

MeSH Terms

Conditions

Oculocerebrorenal Syndrome; Hemostatic Disorders

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Amino Acid Transport Disorders, Inborn; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Geneviève Baujat, MD, PhD

  Hôpital Necker Enfants Malades, Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 11, 2011
• First Posted: March 14, 2011
• Study Start: February 1, 2009
• Primary Completion: July 1, 2010
• Study Completion: December 1, 2010
• Last Updated: November 20, 2025

Record last verified: 2025-10

Locations

FR (1)