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. 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.
Nystagmus, followed by photosensitivity and impaired vision, are typically the initial symptoms that appear in affected children younger than two years of age. Survey Shows a Long Journey to Diagnosis for People with Achromatopsia
#ACHROMA CORPORATION TRIAL#
Information about the Phase 1/2 clinical trial in Achromatopsia caused by CNGA3 mutations can be found at 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. 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.
#ACHROMA CORPORATION HOW TO#
Genetic Testing and Clinical Trials Are Availableįor information about how to obtain free genetic testing for Achromatopsia, go to Foundation Fighting Blindness at A majority of the survey respondents were interested in learning more about clinical trials. 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%). 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%). Only 58% of adults and 65% percent of children with Achromatopsia who participated in the survey received genetic testing. Lack of Information and Perceived Cost are Barriers to Genetic Testing in Achromatopsia 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.” “With several gene therapy studies in Achromatopsia underway, the importance of knowing your genetic mutation is critical. 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. “The results of this survey underscore the challenges that people with Achromatopsia face in receiving an early and accurate diagnosis. 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 Understanding the Achromatopsia Patient Experience survey was conducted online in January 2018 on behalf of Achroma Corp. 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. Only 58% of Adults and 65% of Children with Achromatopsia Have Received Genetic TestingīUTLER, Pa., Aug. More than One-Third of People with Achromatopsia Were Misdiagnosed with Retinal or Cone Dystrophy
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