Local organization funds $47,000 towards medical research on rare, deadly pediatric disease

May 24, 2012 - PRLog -- This research will identify biomarkers that will help determine effective treatments for the LINCL variant of the Batten disease progression.  Batten diseases are a variety of rare, genetic degenerative childhood disorders.  Once the disease progression begins, children afflicted lose muscle coordination and experience seizures. Within a few years, they lose their ability to speak, walk, and feed themselves as their bodies slowly shut down.  The LINCL variant of the disease generally manifests between the ages of 2 and 5 and leads to death between the ages of 8 and 12.
This study will gather data from children with and without Batten Disease, comparing their blood and other fluids to find differences in important small molecules, called biological chemicals, or biochemicals.  If the researchers find significant differences in the biochemicals between healthy children and those with Batten disease, they will call the biochemicals “biomarkers,” which mark the presence or absence of disease.  Once these biomarkers have been found, the researchers can track them for changes throughout the progression of the disease and use this information to help future researchers determine the effectiveness of their treatments.
Today, there are no known biomarkers for LINCL Batten disease.  When treatments are given to Batten patients, there is no way to know if they are working, other than observing physical and mental symptom changes.  Validating disease specific biomarkers could improve current therapeutic practices and provide an enormous advantage in evaluating future treatments.
Noah’s Hope was created by Jennifer and Tracy VanHoutan in honor of their son, Noah, to raise funds, support research, and inform the Batten disease community.  Since the inception of Noah’s Hope, their daughter Laine has also been diagnosed with the disease.   According to Mr. Van Houtan “We believe that a validated biomarker will play an important role in future clinical trials for Batten disease.  Noah’s Hope is pleased to provide funding for this important project.”

Noah’s Hope is a part of Partnership for Cures’ Voluntary Health Organization Incubator.   Partnership for Cures is a non-profit based in Chicago and committed to Rediscovery Research, which delivers medical solutions to patients in need through repurposing existing drugs, treatments and devices for new patient populations.   PFC creates collaborations to drive Rediscovery Research projects as well as providing a home to several small, disease specific organizations within their VHO Incubator.  For more info, visit http://www.4cures.org and http://www.noahshope.com

The pilot clinical trial will be led by Dr. Ronald Crystal , Chairman of Genetic Medicine, The Bruce Webster Professor of Internal Medicine, and Professor of Medicine and Genetic Medicine at Weill Cornell Medical College.