Wiskott-Aldrich Syndrome and Stem Cells

Wiskott-Aldrich syndrome (WAS) is a rare genetic condition affecting the immune system and bone marrow which almost always affects boys. The immune system is the body’s defence against infection from enemies including bacteria, viruses, and parasites.^[1] WAS affects the production of platelets in the bone marrow.^[2] Platelets prevent excessive bleeding from cuts and breakages in blood vessels.

Wiskott-Aldrich syndrome can cause an array of issues in patients from bleeding frequently which is difficult to stop to eczema to recurrent infections including pneumonia. Additionally, those with WAS are at an increased risk of developing some autoimmune diseases and certain cancers.^[1]

Wiskott-Aldrich syndrome is an X-linked recessive condition. This means that the vast majority of people affected are male. Thankfully, even in males WAS is rare, affecting just 1 to 10 out of every 1 million boys.^[2]

Wiskott-Aldrich Syndrome Facts

• WAS almost always affects boys^[1]
• WAS is extremely rare affecting less than 10 in 1 million boys^[2]
• WAS sufferers are at increased risk of certain cancers and autoimmune diseases^[4]
• 90% of Wiskott-Aldrich syndrome sufferers are male^[3]
• Stem cell transplants are successful in 9 out 10 WAS cases treated^[5]
• There are currently 8 clinical trials investigating the application of cord blood in Wiskott-Aldrich syndrome^[6]

Wiskott-Aldrich Syndrome and Stem Cells

A stem cell transplant is the only treatment option to offer WAS patients the chance of a permanent cure. There are three types of stem cell transplant; autologous which uses a patient’s own stem cells, allogeneic which use donor stem cells, and syngeneic which use stem cells from and identical sibling such as a twin. In the case of Wiskott-Aldrich syndrome allogeneic stem cells are preferred for transplant, especially those from a matched sibling.^[7]

By injecting healthy stem cells into the blood stream of a child with WAS, the healthy cells have the chance to rebuild the blood and immune system.^[7]

A small study treated two WAS patients with genetically modified, autologous haematopoietic stem cells. After receiving the genetically modified stem cell infusion, the patient’s clinical condition improved. The treatment resolved to haemorrhagic diathesis (bleeding), eczema, autoimmunity and a predisposition to severe infection.^[8]

References

1. http://www.childrenshospital.org/conditions-and-treatments/conditions/w/wiskott-aldrich-syndrome/overview
2. http://www.childrenshospital.org/conditions-and-treatments/conditions/w/wiskott-aldrich-syndrome/symptoms-and-causes
3. http://patient.info/doctor/wiskott-aldrich-syndrome
4. http://www.piduk.org/specificpidconditions/welldefinedsyndromes/wiskottaldrichsyndrome
5. https://clinicaltrials.gov/ct2/results?term=wiskott-aldrich+syndrome+stem+cells&Search=Search
6. https://clinicaltrials.gov/ct2/results?term=wiskott-aldrich+syndrome+cord+blood&Search=Search
7. http://www.childrenshospital.org/conditions-and-treatments/conditions/w/wiskott-aldrich-syndrome/treatments
8. http://www.ncbi.nlm.nih.gov/pubmed/21067383
9. The Lancet. Haematology, 6(5), e239–e253. https://doi.org/10.1016/S2352-3026(19)30021-3

The information contained in this article is for information purposes only and is not intended to replace the advice of a medical expert. If you have any concerns about your health we urge you to discuss them with your doctor.