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Reinstituting Natural Killer Cell Cytotoxicity and Cytoskeletal Dynamics in Wiskott-Aldrich Syndrome With IL-2 Therapy

Phase 1
24 Months
Open (Enrolling)
Wiskott-Aldrich Syndrome (WAS), X-linked Thrombocytopenia

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Trial Information

Reinstituting Natural Killer Cell Cytotoxicity and Cytoskeletal Dynamics in Wiskott-Aldrich Syndrome With IL-2 Therapy

The Wiskott-Aldrich syndrome (WAS) is a fatal genetic disease of the immune system that
results from a mutation of the WAS protein (WASp) gene. Immune cells that carry this
mutation have a decreased ability to reorganize filamentous actin (F-actin) after
activation. As a result there are a number of defective immunologic functions, some of
which result in deficient host defense. The investigators have identified a pervasive
deficit in natural killer (NK) cell cytotoxicity in WAS patients. WAS patients suffer from
conditions that are hallmarks of NK cell deficiencies. These include severe herpesvirus
infections and B cell malignancies. Our lab and others have also found that exposure of WAS
subject NK cells to IL-2 in vitro restores NK cell function and allows for normal F-actin
reorganization. Thus, the investigators propose a proof of principal clinical trial to
treat WAS subjects with IL-2 to determine safety and efficacy of IL-2 in this population and
if NK cell function is restored ex vivo. If IL-2 can circumvent a defective WASp to restore
NK cell function, the investigators will propose a larger NIH funded efficacy trial of IL-2
in WAS. The investigators will also use the in vivo treatment of WAS subjects to forward our
mechanistic studies of how IL-2 may facilitate F-actin reorganization in the absence of WASp

Inclusion Criteria:

- Age: Subjects age greater than 24 months

- Weight: Subjects greater than 12.5 kilograms

- Disease status: WAS classified as Grade 1-4

- Informed Consent: Written informed consent of the subject (if an adult) or parental
permission, and assent of the child subject provided justification is made for the
inclusion of children in the study

Exclusion Criteria:

- Prior or planned hematopoetic transplant

- WAS classified as currently Grade 5 (autoimmune disease or malignancy)

- Known previous reaction to IL-2

- Subjects taking nephrotoxic, cytotoxic, cardiotoxic, or hepatotoxic medications
(including medications for hypertension)

- Subjects currently taking corticosteroids (not included here: topical and inhaled

- Subjects taking Interferon alpha

- Use of any other investigational agent in the last 30 days

- Women of childbearing potential not using contraception method(s), as well as women
who are breastfeeding

- Subjects with abnormal cardiac, hepatic and Central Nervous System (CNS) function

Type of Study:


Study Design:

Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Outcome Measure:

Safety and Tolerability

Outcome Time Frame:

One year

Safety Issue:


Principal Investigator

Soma Jyonouchi, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Children's Hospital of Philadelphia


United States: Food and Drug Administration

Study ID:




Start Date:

October 2008

Completion Date:

October 2015

Related Keywords:

  • Wiskott-Aldrich Syndrome (WAS)
  • X-linked Thrombocytopenia
  • Primary Immunodeficiency
  • Thrombocytopenia
  • Wiskott-Aldrich Syndrome



Children's Hospital of Philadelphia Philadelphia, Pennsylvania  19104
Hospital of the University of Pennsylvania Philadelphia, Pennsylvania  19104