Oculocerebrorenal Syndrome Clinical Trial
— LOWEOfficial title:
Study of the Pathophysiological Mechanisms Involved in Bleeding Events Observed in Patients With Lowe Syndrome
Verified date | March 2011 |
Source | Assistance Publique - Hôpitaux de Paris |
Contact | n/a |
Is FDA regulated | No |
Health authority | France: Ministry of Health |
Study type | Interventional |
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.
Status | Completed |
Enrollment | 30 |
Est. completion date | December 2010 |
Est. primary completion date | July 2010 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | Male |
Age group | 6 Years to 45 Years |
Eligibility |
Inclusion Criteria: - 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 Exclusion Criteria: - 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. |
Allocation: Non-Randomized, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic
Country | Name | City | State |
---|---|---|---|
France | Necker Enfants Malades Hospital, Genetic | Paris |
Lead Sponsor | Collaborator |
---|---|
Assistance Publique - Hôpitaux de Paris |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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 | No |
Secondary | Characterization of abnormalities in platelet-signalling pathways | Characterization of abnormalities in platelet-signalling pathways | 18 months | No |