2014 Achromatopsia Convention Highlights Promising New Approaches in Treating a Rare Genetic Eye Disease


BUTLER, Pa., June 9, 2014 (GLOBE NEWSWIRE) -- Achroma Corp., a non-profit organization dedicated to supporting research for achromatopsia, a rare genetic eye disease, held its first Achromatopsia Convention for patients, physicians, and researchers in Gainesville, Florida. This convention builds on the momentum generated in several previous meetings that have been organized by ACHM patients volunteers. Achromatopsia (ACHM) is an inherited retinal disease characterized by complete loss of cone photoreceptor function, and people with ACHM have severe vision loss that renders patients legally blind. It is estimated that there are 27,000 ACHM patients in the United States and Europe.

"Because ACHM is a rare disease, patients and their families often  feel isolated and face challenges finding resources to help them understand and manage their disease," said Bridget Vissari, President of Achroma Corp. "The 2014 Achromatopsia Convention brought 109 individuals whose lives are touched by ACHM together. We had several goals for this meeting including creating a more dynamic and cohesive ACHM community, educating patients about new treatment advances on the horizon, such as gene-therapy, and providing patients and their caregivers with new information about this rare disease. In addition to patients and their families, among our participants were leading researchers in the fields of gene therapy and stem cell research, as well as manufacturers of specialized  eyeware and devices that improve the quality of life for ACHM patients. As a parent of a child with ACHM, I am deeply committed to doing whatever I can personally and through Achroma Corp. to find a cure for this disease. We look forward to advancing the dialogue about ACHM through communications and other events throughout the year."  

The two-day convention featured talks by leading ACHM researchers on gene therapy, stem cell research, and clinical issues facing ACHM patients. Other topics addressed during the convention included low vision optometry, bioptic driving, assistive technologies, a parenting forum, and issues facing adult ACHM patients. Genetic testing was available for ACHM patients interested in determining their precise genetic mutation and attendees were invited to tour the laboratory of Dr. William Hauswirth, Ph.D., a faculty member in the Ophthalmology Department at the University of Florida College of Medicine. Dr. Hauswirth is a principal investigator, along with Dr. Jeff Chulay, M.D. from AGTC, on an $8.4 million grant from the National Eye Institute (NEI), a division of the National Institutes of Health, that is evaluating a gene-based therapy for the treatment of ACHM. A human clinical trial conducted under this grant is expected to begin in 2015.

"There is no cure for ACHM and patients living with this disease face progressive deterioration of their vision," said Dr. Hauswirth. "This convention gave us an important opportunity to meet with ACHM patients and their families and to provide them with the latest information about gene-based therapies and answer their questions about participating in clinical trials. A gene-based therapy that provides a normal copy of the gene that is mutated in ACHM could help to stabilize patients' vision and, if administered early enough in the disease process, could potentially offer a cure. We need to thank the patients who participate in clinical studies as their contribution is critical to improving and advancing the treatment of ACHM."

Since its inception in 2012, Achroma Corp. has provided grants in excess of $38,000 to support a variety of projects. This includes funding additional personnel and equipment for use in gene therapy research at the University of Florida, and a grant to the Chicago Lighthouse to provide the funding necessary to include an additional five patients in clinical screening and first year participation as part of a current National Institute of Health (NIH) research grant and clinical trial. Achroma Corp. has also committed to provide additional funds totaling $29,000.00 over the next two years to support the participation of these five patients in the clinical trial at the Chicago Lighthouse trial site.

For additional information about Achroma Corp. or to make a donation, please visit www.achromacorp.org.


            

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