For years, people with inherited retinal diseases (IRDs), such as achromatopsia (ACHM), have been undiagnosed, misdiagnosed or delayed seeking genetic testing to confirm their diagnosis due to the lack of treatment options. Thanks to the rapid advancement of gene therapy research, this situation is changing. Achromatopsia patients, however, still face a long journey in pursuit of an early and accurate diagnosis.
People with ACHM tend to be affected by color blindness, light sensitivity and decreased visual acuity. The condition results from mutations in one of several genes, the most common of which are the CNGA3 and CNGB3 genes. Although there are no curative treatments for ACHM, the use of red-tinted glasses can reduce symptoms of light sensitivity and daytime blindness. According to the National Institutes of Health, ACHM affects an estimated 1 in 30,000 people worldwide.
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. 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. Additionally, the survey found fewer than two-thirds of respondents received genetic testing due to perceived lack of knowledge and access.
"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. Christine N. Kay, ophthalmologist at Vitreo Retinal Associates in Gainesville, Florida. "As gene therapy technology advances, patient care must evolve as well. 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."
"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. "With several gene therapy trials underway, it is crucial that we educate medical professionals about this inherited retinal disorder."
Genetic testing has become vital in the development of new treatments for achromatopsia. With numerous clinical trials rapidly advancing, gene therapies are changing the way that doctors manage IRDs. 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. AGTC is recruiting for two phase I/II clinical trials for patients with ACHM caused by mutations in the CNGB3 or the CNGA3 gene. 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.
For more information about AGTC's clinical trials for ACHM, visit https://agtc.com/programs/achromatopsia/.