For the first time the Jeffrey Modell Foundation is giving a research grant to a Belgian laboratory. The team of Adrian Liston from VIB-KU Leuven will use the grant to develop a gene therapy to cure children that suffer from IPEX syndrome, a rare and fatal autoimmune disorder in which the immune system attacks the body's own tissues and organs. At the moment, the only successful therapy to treat the syndrome is a bone marrow transplantation, which is not available for all children.
"This is a real chance for a cure", said group leader Adrian Liston. "The gene responsible for this disease was identified 13 years ago, but for the first time we may have learned enough about the basic biology to solve it. We should know within a year whether the gene therapy works in mice, after which we can move to patients at top speed."
The Jeffrey Modell Foundation (JMF)
JMF is a global non-profit organization for patients who suffer from Primary Immunodeficiency (PI) and their relatives. The organization is devoted to early and precise diagnosis, meaningful treatments and, ultimately, cures. Through clinical and basic research, physician education, patient support, advocacy, public awareness and new-born screening they want to make a difference in the lives of patients with PI.
Vicki and Fred Modell established the Foundation in 1987, in memory of their son Jeffrey, who died at the age of fifteen from complications of PI. During the years, the foundation has created a network of the world's leading expert immunologists. Two years ago the Child Immune Deficiencies Department of UZ Leuven was given the first certification as a "Jeffrey Modell Foundation Diagnostic and Research Center for Primary Immunodeficiencies" in Belgium.
IPEX and primary immunodeficiency (PI)
IPEX is an acronym for immune dysregulation, polyendocrinopathy (diseases affecting multiple endocrine glands), enteropathy (disorder of the intestines), and X-linked (pattern of inheritance).
IPEX Syndrome is classified as a primary immunodeficiency disorder. Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function normally. IPEX is caused by mutations in the FOXP3 gene which lead to the dysfunction of regulatory T cells (a type of white blood cells).
IPEX syndrome is an autoimmune disorder, meaning that the immune system mistakenly attacks the body's own tissues and organs. The syndrome is characterized by severe diarrhoea, dermatitis (inflammation of the skin), diabetes and severe, life-threatening infections. The disease only affects boys.
Current therapies still remain of partial efficacy. Immunosuppressive drugs are most commonly used, but they only delay the disease. Stem cell transplantation, when performed before severe autoimmunity develops, is currently the only effective cure. However transplantation is only a solution for those children with a compatible donor, unless a gene therapy option is available to correct the mutation in the patient's own stem cells.