Publication: Blood. 117(3): 839-847.
Published Date: 2011
Describes use of induced pluripotent stem cells in the treatment and disease modeling of Hurler syndrome.
Hurler syndrome is an enzymatic deficiency disorder in which low levels of α-L-iduronidase (IDUA) cause toxic buildup of glycosaminoglycans in bone, connective tissue, and the brain. While IDUA replacement therapy can treat mild forms of Hurler syndrome, IDUA replacement cannot remediate severe forms because of its inability to cross the blood-brain barrier. Homeopathic cell transplant (HCT) is an effective measure for patients with severe IDUA deficiency, but treatment is not possible without the availability of a suitable donor and is often associated with significant physical and immune injury. The authors demonstrated induced pluripotent stem (iPS) cells can be obtained from patients with Hurler syndrome and can be differentiated into hematopoietic/nonhematopoietic cells and gene-corrected with functioning IDUA. These cells may be used to model Hurler syndrome in future therapy development and potentially treat anatomically challenging sites.