On Saturday, July 18, Taylor’s Tale helped make it possible to award one-year grants to three talented research teams from the University of Texas Southwestern at Dallas, Washington University in St. Louis and the National Institutes of Health (NIH). A fourth grant brought the total to $192,500 for 2009-2010, a new record for infantile neuronal ceroid lipofuscinosis (INCL) research. The grants were awarded at the Batten Disease Support and Research Association (BDSRA) annual conference in St. Louis, MO.

Taylor’s Tale joined Hayden’s Batten Disease Foundation Inc. and the North American and Australian chapters of BDSRA to fund the following projects through July 2010:

Anil Mukherjee, MD, PhD, National Institutes of Health
Ataluren/PTC124
$65,000

Ataluren is the first drug designed to enable the formation of a functioning protein in patients with genetic disorders due to a nonsense mutation; it has already shown promise for nonsense mutation Duchenne muscular dystrophy and nonsense mutation cystic fibrosis. Dr. Mukherjee’s study will evaluate Ataluren as a treatment for nonsense mutation INCL.

Sandra Hofmann, MD, PhD, University of Texas Southwestern
Enzyme Replacement Therapy for Palmitoyl Protein Thioesterase (PPT1) Deficiency
$60,000

This project is now in its third year; Taylor’s Tale funded Dr. Hofmann in 2007 with a $50,000 grant and in 2008 with a $55,000 grant.

INCL is caused by a deficiency in PPT1, a lysosomal enzyme responsible for cleaning substances called lipoproteins out of cells. The overall goal of Dr. Hofmann’s project is to develop a way to produce sufficient quantities of PPT1 for therapeutic use and get it into the brain. It is anticipated that PPT1, if injected directly into the bloodstream, will not pass the blood brain barrier to reach the brain, where it is needed. Therefore, Dr. Hofmann’s team also produced an enzyme that consists of PPT1 with a second protein, which may be able to chaperone the needed enzyme across the blood brain barrier and into the brain.

This year, Dr. Hofmann has begun preclinical work with mice. The purified enzyme is currently being tested for safety and efficacy in mice, with the eventual goal of a trial in humans.

Shannon L. Macauley, PhD, Washington University School of Medicine
The Role of Astrocyte Activation in INCL
$30,000

Data previously collected by Dr. Macauley suggests that the activation of astrocytes – central nervous system cells that support other nerve cells – is connected to future neurodegeneration in INCL patients. She suggests a three-prong approach to curing the disease: gene therapy, a bone marrow transplant and drug therapy with Cystagon.

Learn More