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Associated Hematology Studies : Galactosialidosis
Galactosialidosis is a condition that affects many areas of the body. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features. Although the study team knows the general features of the disease, they do not know the age range of patients who have it nor how rapidly the disease progresses. The study team will learn about the disease by obtaining medical information from individual patients and from the patient doctor’s records, by performing blood tests and by performing imaging studies to learn organ size and function. Galactosialidosis is caused by a deficiency in a body substance called Protective Protein Cathepsin A (PPCA). Lack of this substance leads to an accumulation of storage material called sialoligosaccharide in body organs.
Researchers in a laboratory at St. Jude have developed an inactivated (not able to function) virus called a “vector” which transfers the normal gene for PPCA into the liver. This vector is able to effectively treat mice that have galactosialidosis because their genes for PPCA have been inactivated.
The study team has made a related vector that carries the gene for a clotting factor (Factor IX or FIX) which is not made by patients with a form of hemophilia. The study team has treated six participants in a gene transfer trial at one of three doses and FIX production was observed at each dose. These results tell them that the type of vectors they are using can work in humans. There are possible side-effects to the vectors including inflammation of the liver which we have observed in one of the participants in the FIX trial.
Individuals with a suspected and/or confirmed molecular diagnosis of galactosialidosis.
Individuals with a lysosomal storage disorder who have been shown to have a mutation in a gene other than that encoding PPCA.
Arthur W. Nienhuis, MD
The above information is intended to provide only a basic description about a research protocol that may be currently active at St. Jude. The details made available here may not be the most up-to-date information on protocols used by St. Jude. To receive full details about a protocol and its status and or use at St. Jude, a physician must contact St. Jude directly.