More than One-Third of People with Achromatopsia Were Misdiagnosed with Retinal or Cone Dystrophy
Only 58% of Adults and 65% of Children with Achromatopsia Have Received Genetic Testing
BUTLER, Pa., Aug. 07, 2018 (GLOBE NEWSWIRE) — Achroma Corp., a non-profit 501(c)(3) tax-exempt charity dedicated to raising awareness and finding a cure for a rare form of blindness called Achromatopsia, announced results of a new global survey, Understanding the Achromatopsia Patient Experience.
The Understanding the Achromatopsia Patient Experience survey was conducted online in January 2018 on behalf of Achroma Corp. The survey, conducted in partnership with Applied Genetic Technologies Corporation (AGTC; NASDAQ: AGTC), the gene therapy company, was distributed through Achroma Corp’s network and received 226 responses from individuals who have been diagnosed – or have a child who has been diagnosed – with Achromatopsia, a rare inherited retinal disorder that is associated with a significant reduction in visual acuity, extreme light sensitivity causing day blindness, and complete loss of color discrimination.
“The results of this survey underscore the challenges that people with Achromatopsia face in receiving an early and accurate diagnosis. Many patients don’t know that genetic testing is incredibly valuable because it can identify the specific gene mutation causing their disease,” commented Bridget Vissari, founder of Achroma Corp. “With several gene therapy studies in Achromatopsia underway, the importance of knowing your genetic mutation is critical. We are committed to educating medical professionals about this inherited retinal disorder as well as raising awareness in our community about the value of genetic testing in the hopes that one day we will finally have an FDA approved treatment option for Achromatopsia.”
Lack of Information and Perceived Cost are Barriers to Genetic Testing in Achromatopsia
Only 58% of adults and 65% percent of children with Achromatopsia who participated in the survey received genetic testing. For the 40% of adults who have not received genetic testing, the most commonly cited reasons were perceived cost (34%), lack of information on how to access genetic testing (31%) or about its availability (29%). For parents of children with Achromatopsia who have not received genetic testing, the most common cited reason was lack of information on accessing genetic testing (27%).
Genetic Testing and Clinical Trials Are Available
For information about how to obtain free genetic testing for Achromatopsia, go to Foundation Fighting Blindness at www.myretinatracker.org.
A majority of the survey respondents were interested in learning more about clinical trials. AGTC is currently recruiting for two Phase 1/2 clinical trials for individuals with Achromatopsia caused by mutations in either the CNGA3 or CNGB3 gene. Information about the Phase 1/2 clinical trial in Achromatopsia caused by CNGA3 mutations can be found at ClinicalTrials.gov under the trial identifier number NCT02935517, while the Phase 1/2 clinical trial in Achromatopsia caused by CNGB3 mutations can be found under the trial identifier number NCT02599922.
Survey Shows a Long Journey to Diagnosis for People with Achromatopsia
Nystagmus, followed by photosensitivity and impaired vision, are typically the initial symptoms that appear in affected children younger than two years of age. The road to diagnosis usually starts with a general practitioner, also known as a primary care physician, who rarely refers the patient to a vision specialist immediately. Adults with Achromatopsia saw an average of seven healthcare providers before diagnosis, and most received a diagnosis at five years or later following initial primary clinical consultation. Children with Achromatopsia typically have a shorter journey, seeing an average of four healthcare providers in a span of three years before receiving a diagnosis, with 32% receiving the diagnosis within a year of the initial onset of symptoms. Misdiagnosis was also cited as a complicating factor for people with Achromatopsia, with 34% of adults and 23% of children receiving an incorrect diagnosis of retinal or cone dystrophy. Overall, the majority of individuals with Achromatopsia reported that the correct diagnosis came from ophthalmologists or pediatric ophthalmologists. Less commonly, diagnoses also came from retinal specialists and low-vision specialists.
Photosensitivity and Poor Visual Acuity Have the Most Severe Impact on Daily Functioning
Of the major symptoms of Achromatopsia, photosensitivity is reported as the most debilitating and bothersome, having a profound impact on daily functions and emotional health and wellness. While the majority of affected individuals report that their photosensitivity has not changed over time (53% adults, 82% children), more than one-third of adults believed that it has worsened and have taken additional steps to adapt – primarily, through the use of eyewear with darker tint/more extreme gradient (58%), expanded use of eyewear (53%), or avoiding the outdoors (44%).
About Achroma Corp.
Achroma Corp. is a federally recognized 501(c)(3) non-profit charity dedicated to funding and expediting a cure for those affected with Achromatopsia. The organization strives to raise funds to cover the considerable expenses of research, development, and patient studies which will ultimately result in clinical trials to treat Achromatopsia. Knowledge gained with this funding will be applied to develop treatments for children and adults affected with other forms of inherited blindness. For more information, please visit: www.achromacorp.org.
ACHROMA CORP. CONTACT:
Bridget Vissari
T: +1 724-841-4052
bvissari@achromacorp.org
