NCT00909363

Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients

Effects Of Eltrombopag On Thrombocytopenia, Platelet Function and Bleeding In Patients With Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia.

• Status: Terminated
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 24 (actual)
• Sponsor: Weill Medical College of Cornell University · Academic / Other
• Sex: Male
• Age: 3 Months – 80 Years
• Healthy volunteers: Accepted

Summary

The purpose of this project is to describe the pathophysiology of thrombocytopenia and bleeding in patients with Wiskott-Aldrich Syndrome (WAS) and determine the response to thrombopoietic agents in vitro and in vivo.

Detailed description

Wiskott Aldrich Syndrome is an X-linked disease characterized by immunodeficiency, eczema and thrombocytopenia; a milder form of the disease known as X-Linked thrombocytopenia also exists. The thrombocytopenia in both WAS and XLT is characterized by: severe thrombocytopenia with platelet counts frequently less than 10-30,000/ul; small platelets which may be dysfunctional; and, as a result, a high rate of serious bleeding including intracranial hemorrhage. Because eltrombopag has been shown to be remarkably efficacious in substantially increasing platelet counts in a high percentage of ITP patients, this study seeks to effectively treat patients who exhibit similar pathologies, as well as evaluate the state of platelets in patients with WAS and relate it to clinical bleeding. It also aims to demonstrate whether eltrombopag administered daily will enhance stem cell function, increase platelet production and platelet count, and reduce bleeding in patients with WAS.

Conditions

• Wiskott-Aldrich Syndrome
• Thrombocytopenia
• Bleeding

Interventions

Type	Name	Description
DRUG	Promacta	WAS Patients receiving treatment will start on 1 mg/kg of eltrombopag daily and be seen weekly for 12 weeks. Dose adjustment will be based on the weekly monitoring of the platelet count as utilized in ongoing studies in ITP as well as on liver tests. they will also have diagnostic blood testing prior to initiating treatment
DIAGNOSTIC_TEST	blood drawing in patients with WAS	blood will be drawn for platelet parameters in WAS patients not receiving treatment either because they declined or because they were ineligible
DIAGNOSTIC_TEST	blood drawing in healthy controls	blood will be drawn once in healthy children as controls for platelet parameters

Timeline

• Start date: 2009-06-01
• Primary completion: 2017-05-15
• Completion: 2017-06-30
• First posted: 2009-05-28
• Last updated: 2019-03-18
• Results posted: 2019-03-18

Locations

1 site across 1 country: United States