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

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ClinicalTrials.gov Identifier: NCT00909363
Recruitment Status : Terminated (retirement of PI)
First Posted : May 28, 2009
Results First Posted : March 18, 2019
Last Update Posted : March 18, 2019
Novartis Pharmaceuticals
Information provided by (Responsible Party):
Weill Medical College of Cornell University

Brief 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.

Condition or disease Intervention/treatment Phase
Wiskott-Aldrich Syndrome Thrombocytopenia Bleeding Drug: Promacta Diagnostic Test: blood drawing in patients with WAS Diagnostic Test: blood drawing in healthy controls Phase 2

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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 24 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Intervention Model Description:
  1. group of 11 WAS patients treated with eltrombopag
  2. WAS patients who had their blood drawn once but did not receive eltrombopag treatment
  3. healthy children as controls for testing only

3) healthy volunteers who had their blood drawn once

Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Effects Of Eltrombopag On Thrombocytopenia, Platelet Function and Bleeding In Patients With Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia.
Study Start Date : June 2009
Actual Primary Completion Date : May 15, 2017
Actual Study Completion Date : June 30, 2017

Arm Intervention/treatment
Experimental: WAS patients receiving Promacta
Promacta® is commercially available in 12.5 mg, 25 mg, 50 mg, and 75 mg tablets. For this study, for young children unable to swallow a tablet, eltrombopag powder for oral suspension (Eltrombopag PfOS) will be used. PfOS is only available for investigational use at 20mg. Each sachet contains eltrombopag equivalent to 20mg per gm of powder and is reconstituted to a total of 10 ml so that the concentration is 2 mg/ml.
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

Other Name: eltrombopag, revolade

Experimental: WAS patients for blood drawing only
WAS patients not receiving treatment to serve as subjects for platelet parameter studies blood drawing once only
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

Placebo Comparator: healthy children for blood drawing only
healthy children having blood obtained once as controls for platelet parameters study
Diagnostic Test: blood drawing in healthy controls
blood will be drawn once in healthy children as controls for platelet parameters

Primary Outcome Measures :
  1. How Many WAS Patients Will Achieve Platelet Counts Above 50,000/ul. [ Time Frame: 12 weeks ]
    number of WAS patients achieving this increase to > 50,000/uL without rescue medication in the previous 3 weeks during eltrombopag treatment

Secondary Outcome Measures :
  1. Number of Patients With Wiskott-Aldrich Syndrome (WAS) With Grade 3 or Higher Bleeding or SAE (on WHO Scale) [ Time Frame: 12 Weeks ]
    number of patients with bleeding SAEs while on treatment and/or number of patients with grade 3 or higher bleeding on WHO (World Health Organization) scale: the scale is from 1 to 5 with 5 = fatality and 1=very little bleeding

  2. How Many Patients With WAS Had Abnormal Platelet Function Including Activation [ Time Frame: 12 weeks ]
    in how many patients with WAS were platelets dysfunctional or activated before treatment as measured by flow cytometry to a substantial degree and the same after treatment with eltrombopag

  3. How Many Patients With WAS Had Substantially Increased Platelet Production After Eltrombopag [ Time Frame: 12 weeks ]
    in how many patients with WAS did eltrombopag increase platelet production as measured by the immature platelet fraction (IPF), a variable derived from the Sysmex auto analyzer, which is considered to be a measure of newly formed platelets ie reticulated platelets

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Months to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

In order to be eligible for study entry, subjects must comply with the following:

  • Males from 3 months old to 80 years old
  • Signed written informed consent obtained prior to study entry
  • Clinical diagnosis of WAS or XLT
  • Platelet levels less than 100 x 109/L
  • Adequate renal and hepatic function (creatinine and bilirubin less than or equal to 1.5 x IULN, AST and ALT less than or equal to 2.5 x IULN)

Exclusion Criteria:

Any patient is ineligible for study entry if he/she:

  • Over the age of 80
  • Women (only males are eligible)
  • fertile men who are not practicing or who are unwilling to practice birth control while enrolled in the study or until at least 6 months after treatment
  • Aspirin, aspirin-containing compounds, salicylates, non-steroidal anti-inflammatory medications (NSAIDS), clopidogrel or ticlopidine, warfarin or other vitamin K antagonists, unfractionated or low molecular heparin within 7 days of first infusion
  • Red blood cell transfusion in the past four weeks
  • Elevated (> 1.5 x ULN) prothrombin time (PT) or partial thromboplastin time (PTT)
  • New York Heart Classification III or IV heart disease. Other severe cardiovascular or cardiopulmonary disease, including COPD.
  • Known HIV infection, hepatitis B or C infection
  • Any infection requiring antibiotic treatment within 3 days
  • Other concurrent medical or psychiatric conditions that, in the Investigator's opinion, may be likely to confound study interpretation or prevent completion of study procedures and follow-up examinations.
  • Prior malignancy with less than a 5-year disease-free interval, excluding nonmelanoma skin cancers and carcinoma in situ of the cervix

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00909363

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United States, New York
Weill Cornell Medical College
New York, New York, United States, 10065
Sponsors and Collaborators
Weill Medical College of Cornell University
Novartis Pharmaceuticals
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Principal Investigator: James B Bussel, MD Weill Medical College of Cornell University
  Study Documents (Full-Text)

Documents provided by Weill Medical College of Cornell University:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Weill Medical College of Cornell University
ClinicalTrials.gov Identifier: NCT00909363    
Other Study ID Numbers: 0801009600
First Posted: May 28, 2009    Key Record Dates
Results First Posted: March 18, 2019
Last Update Posted: March 18, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Additional relevant MeSH terms:
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Wiskott-Aldrich Syndrome
Pathologic Processes
Blood Platelet Disorders
Hematologic Diseases
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hemorrhagic Disorders
Leukocyte Disorders
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Primary Immunodeficiency Diseases
Immunologic Deficiency Syndromes
Immune System Diseases