A Study of Patients Treated for Wiskott-Aldrich Syndrome Since 1990

Overview

About this study

Wiskott - Aldrich syndrome (WAS) is a rare serious medical condition that causes problems both with the immune system and with easy bruising and bleeding. The immune abnormalities cause patients with WAS to be very susceptible to infections. Depending on the specific type of primary immune deficiency diseases, there are effective treatments, including antibiotics, cellular therapy and gene therapy, but studies of large numbers of patients are needed to determine the full range of causes, natural history, or the best methods of treatment for long term success. This multicenter study combines retrospective, prospective and cross-sectional analyses of the transplant experiences for patients with WAS who have already received Hematopoietic cell transplant (HCT) since 1990, or who will undergo HCT during the study period. The retrospective and prospective portions of the study will address the impact of a number of pre and post-transplant factors on post-transplant disease correction and ultimate benefit from HCT. The cross-sectional portion of the study will assess the benefit of HCT 2 years post-HCT.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

Males who have
- Thrombocytopenia of < 100K and either molecular diagnosis of Wiskott-Aldrich Syndrome (WAS) or reduced WASP expression
- Thrombocytopenia < 100K and positive family history consistent with WAS diagnosis
- Chronic thrombocytopenia < 100K for minimum of 3 months and low mean platelet volume below normal range for age and recurrent and/or severe infections requiring treatment and/or eczema or lack of antibody response to polysaccharide antigens or low IgM
Longitudinal Analysis (Retrospective and Prospective)
- For stratum A, participants with WAS who have or will receive HCT
  - Participants with WAS who have received an HCT since January 1, 1990
- For stratum B, participants with WAS who have or will receive gene transfer
  - Participants in which the intention is to treat with gene transfer with autologous modified cells
Cross-Sectional Analysis of Strata A and B
- Participants with WAS who are surviving and at least 2 years after the most recent HCT or gene therapy

Exclusion Criteria

Longitudinal Analysis and Cross-Sectional Analysis
- As this is a natural history study we will not exclude any patients due to race or age who fit the inclusion criteria

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location	Status	Contact
Rochester, Minn. Mayo Clinic principal investigator Avni Joshi, M.D., M.S.	Closed for enrollment	Contact information: Joni Amundson amundson.joni@mayo.edu

Mayo Clinic Location

Status

Contact

Rochester, Minn.

Mayo Clinic principal investigator

Avni Joshi, M.D., M.S.

Closed for enrollment

Contact information:

Joni Amundson

amundson.joni@mayo.edu

More information

Publications

Allogeneic hematopoietic cell transplantation (HCT) has been used for 40 years to ameliorate or cure primary immune deficiency (PID) diseases, including severe combined immunodeficiency (SCID) and non-SCID PID. There is a critical need for evaluation of the North American experience of different HCT approaches for these diseases to identify best practices and plan future investigative clinical trials. Our survey of incidence and prevalence of PID in North American practice sites indicates that such studies are feasible. A conference of experts in HCT treatment of PID has recommended (1) a comprehensive cross-sectional and retrospective analysis of HCT survivors with SCID; (2) a prospective study of patients with SCID receiving HCT, with comparable baseline and follow-up testing across participating centers; (3) a pilot study of newborn screening for SCID to identify affected infants before compromise by infection; and (4) studies of the natural history of disease in patients who do or do not receive HCT for the non-SCID diseases of Wiskott-Aldrich syndrome and chronic granulomatous disease. To accomplish these goals, collaboration by a consortium of institutions in North America is proposed. Participation of immunologists and HCT physicians having interest in PID and experts in laboratory methods, clinical outcomes assessment, databases, and analysis will be required for the success of these studies. Read More on PubMed

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