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More info
You can access this
clinical trial
if you have
Oculocerebrorenal Syndrome
and you are
between 6 and 45
years old
-
The phase for this study is not defined.
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The purpose

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.

Provided treatments

  • Other: Blood sample

Locations near you

Unfortunately, there are no recruiting locations near you. Please check the list with all locations below.
Tris trial is registered with FDA with number: NCT01314560. The sponsor of the trial is Assistance Publique - Hôpitaux de Paris and it is looking for 30 volunteers for the current phase.
Official trial title:
Study of the Pathophysiological Mechanisms Involved in Bleeding Events Observed in Patients With Lowe Syndrome