Wiskott-Aldrich Syndrome (WAS) is a primary immune deficiency disorder that almost exclusively affects boys (x-linked – mothers are carriers, and pass the WAS gene on to their sons). WAS is characterized by severely low platelets (cells that help clot the blood) and a tendency towards bleeding episodes, increased infections, allergies, eczema (severe skin rash) and risk towards the development of cancers and autoimmune complications.
The PIDTC 6904 study is trying to understand outcomes for patients with WAS who have or will be receiving either a BMT or gene therapy for the disorder. Patients with WAS who were born January 1, 1990 until the present day are eligible. Individuals who are recently / newly diagnosed with WAS where the intention is to perform a blood and marrow transplant or gene therapy are eligible for 6904. These patients will be followed longitudinally (into the future) to see how they do. Individuals who previously had a BMT or gene therapy performed are also eligible for 6904. These people will be enrolled on the “retrospective” component (looking back). This includes people who may have died from complications of WAS, as well as people who are still alive.
Speak to your doctor to see if you / your child are eligible for 6904. This is NOT a clinical research trial. There are NO experimental treatments and the study is not dictating how you / your child’s doctor should treat you. It is only asking for data around how well you / your child has done with whatever treatments your doctor feels are necessary for the best medical care of you / your child.
For people with WAS who are still alive and who have already received a BMT or gene therapy, an important part of this study is the “cross-sectional” component. In this situation, the 6904 study is asking for these patients to return to the hospital where they were / are being treated for a visit. This visit will help doctors and researchers understand how you / your child are doing right now, and give better insight into the long-term outcomes of BMT and gene therapy for WAS. This visit will ask for additional blood to be used on a research basis to better understand how the immune system is working after the procedure (often years later), as well as how you / your child is doing as a person, including whether you / your child are experiencing infections, autoimmune complications, and you / your child’s quality of life.
6904 represents the largest and most comprehensive study of WAS ever performed. Researchers are hoping the information from this trial will help improve treatments for people with WAS in the future.