Scientists investigate why lowe syndrome patients bleed more
NCT ID NCT01314560
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looked at why people with Lowe syndrome, a rare genetic disorder, may have unusual bleeding. Researchers took blood samples from 30 patients to test how well their platelets work. The goal was to confirm and understand any platelet problems that could cause bleeding events.
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Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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30 people
The number who actually took part.
- Start date
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Feb 2009
- Finished
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Dec 2010
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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6 to 45 years
- Sex
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Male participants only
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Necker Enfants Malades Hospital, Genetic
Paris, 75015, France