Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients
Condition: Wiskott-Aldrich Syndrome; Thrombocytopenia; Bleeding
MeSH terms: Thrombocytopenia; Wiskott-Aldrich Syndrome; Syndrome; Hemorrhage
Intervention: Promacta; blood drawing in patients with WAS; blood drawing in healthy controls
Intervention description: 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; blood will be drawn for platelet parameters in WAS patients not receiving treatment either because they declined or because they were ineligible; blood will be drawn once in healthy children as controls for platelet parameters
Phase: Phase 2
Study type: Interventional
Primary purpose: Treatment
Allocation: Non-Randomized
Intervention model: Single Group Assignment
Intervention model description: group of 11 WAS patients treated with eltrombopag
WAS patients who had their blood drawn once but did not receive eltrombopag treatment
healthy children as controls for testing only
3) healthy volunteers who had their blood drawn once
Masking: None (Open Label)
Enrollment: 24.0
Sex: Male
Minimum age: 3 Months
Maximum age: 80 Years
Healthy volunteers: Accepts Healthy Volunteers

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.
    

Eligibility criteria:

        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