“AGTC understands the unique challenges for those living with achromatopsia and is proud to be a sponsor of the No Roadblocks program and provide support to help these individuals gain independence through bioptic driving,” said Sue Washer, President and Chief Executive Officer of AGTC.
Bioptic driving is a method of driving that uses a patient’s general vision and intermittent spotting through a small telescopic system that improves the sharpness of the patient’s vision. These filters are often essential to bioptic driving. There is no specific treatment for ACHM, although deep red tinted glasses or contact lenses can reduce symptoms of light sensitivity and daytime blindness. ACHM is associated with extremely poor visual acuity, extreme light sensitivity resulting in daytime blindness, and complete loss of color discrimination. No Roadblocks is a program that funds tinted glasses or contact lenses, as well as bioptics, for individuals living with achromatopsia (ACHM), an inherited condition caused by mutations in one of several genes, with the two most common being mutations in either the CNGB3 or CNGA3 genes. As a new era of treatment for rare IRDs becomes a reality, it is more critical now than ever to embrace these new technologies, and all that can be done to ensure positive outcomes for patients.Program helps those living with Achromatopsia receive filtered glasses and contact lenses to qualify for bioptic drivingĪug– Applied Genetic Technologies Corporation (Nasdaq: AGTC), a biotechnology company conducting human clinical trials of adeno-associated virus (AAV)-based gene therapies for the treatment of rare retinal diseases, today announced it will be a sponsor of the Achroma Corp program, No Roadblocks. AGTC is recruiting for two phase I/II clinical trials for patients with ACHM caused by mutations in the CNGB3 or the CNGA3 gene.
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Patient advocacy groups such as the Foundation Fighting Blindness (FFB) offer free genetic testing to individuals who meet specific criteria, and many clinical trials provide genetic testing to potential participants. With numerous clinical trials rapidly advancing, gene therapies are changing the way that doctors manage IRDs. Genetic testing has become vital in the development of new treatments for achromatopsia. "With several gene therapy trials underway, it is crucial that we educate medical professionals about this inherited retinal disorder."
"This survey is an important step in educating others about the challenges that people with achromatopsia face, as well as the value of genetic testing," said Bridget Vissari, president of Achroma Corp. Eye care professionals can support patients by familiarizing themselves with the symptoms of various rare IRDs, recommending genetic testing when appropriate and informing patients about clinical trials as a potential treatment option." "As gene therapy technology advances, patient care must evolve as well. Kay, ophthalmologist at Vitreo Retinal Associates in Gainesville, Florida. "The survey results demonstrate the challenges that prevent people with achromatopsia from being able to quickly secure an accurate diagnosis, as well as the perceived barriers to obtaining genetic testing," said Dr. Additionally, the survey found fewer than two-thirds of respondents received genetic testing due to perceived lack of knowledge and access. Results showed more than one-third of people with ACHM were misdiagnosed, with adults usually seeing an average of seven healthcare providers over more than five years to receive the correct diagnosis. A recent survey was conducted online in January 2018 on behalf of Achroma Corp., a nonprofit charity dedicated to raising awareness and finding a cure for ACHM, and in partnership with Applied Genetic Technologies Corporation (AGTC), a gene therapy company, to better understand the challenges that people with ACHM face regarding diagnosis and access to genetic testing.
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