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Italian Achromatopsia Association Increases Global Awareness of Achromatopsia, a Rare Genetic Eye Disease, With an Expedition to Pingelap, the Island of the Color Blind

TRENTO, Italy, Aug. 14, 2019 (GLOBE NEWSWIRE) -- The Italian Achromatopsia Association (IAA) today announced that it is organizing a trip to Pingelap, a remote Micronesian atoll in the South Pacific, also known as the “Island of the Color Blind.” While the incidence of achromatopsia, a rare inherited retinal disease (IRD), in the general population is 1 in every 30,000 individuals, the condition is found in between 10 and 30 percent of Pingelap’s population. Achromatopsia, for which there is no cure, causes extreme light sensitivity resulting in daytime blindness, poor visual acuity and a complete loss of color discrimination. 

The trip was made possible in part by a number of sponsors, including Applied Genetic Technologies Corporation (AGTC), a biotechnology company that is committed to developing transformational genetic therapies for patients suffering from rare diseases, including achromatopsia.

“Our team is incredibly excited to embark on this journey to enhance global understanding of achromatopsia and the differences between this condition and the more common forms of color blindness,” said Elisabetta Luchetta, President of the IAA. “We are so pleased to have AGTC as a sponsor of this initiative, which aims to increase awareness about the challenges of living with achromatopsia and enable the global community to understand the impact this inherited condition has on the daily lives of achromats.“

Twenty-five years ago, Oliver Sacks, MD, the neurologist and author, embarked on a journey to Pingelap to study the island’s culture and the way the Pingelapese have adapted to accommodate this genetic eye condition, which, while rare in most populations, is common within their community. Sacks documented the trip in his 1996 book The Island of the Colorblind and in a BBC film of the same name. Inspired by his trip, the IAA will develop a documentary about Pingelap to provide a unique perspective that compares and contrasts the lives of people with achromatopsia who experience their disease as a rare condition and those on the island, who experience it in a more communal context.

“While there are ways to manage the condition, there is still a significant need to develop more advanced treatment options to improve the lives of patients,” said Dr. Irene Maumenee, Director of Ophthalmic Genetics at Columbia, and one of the original researchers to travel to Pingelap and initiate a long-term analysis of achromatopsia. “Gene therapy has the potential to emerge as an innovative and game-changing treatment for people with achromatopsia and other rare IRDs. We hope that some of the insights gathered on this trip can be translated into meaningful clinical outcomes for people with rare IRDs across the globe.”

Achromatopsia is an inherited retinal condition caused by mutations in one of several genes. The two most commonly affected are the CNGB3 and CNGA3 genes. Over 200 years ago, Pingelap was devastated by a typhoon which spared only a few inhabitants of the island. Some of those who lived are believed to have carried a recessive mutation in the CNGB3 gene. This created a genetic “founder effect” as the increased prevalence of mutation within the tiny population resulted in a higher rate of achromatopic individuals.

“We are thrilled to support the IAA and hope that what they learn from the expedition will help illuminate the unique challenges of achromatopsia,” said Kate Edgar, Executive Director of the Oliver Sacks Foundation. “No one is better equipped to do that than people who live with the condition themselves, including the members of the IAA. Dr. Sacks would have been intrigued and delighted to know that his book The Island of the Colorblind has inspired this new exploration.”

Sponsors Making the Trip a Reality

Sponsors of this trip include the following:

  • AGTC is a sponsor of the trip as part of its ongoing commitment to patients worldwide as the company endeavors in the future to expand its clinical program on a global level. AGTC is conducting two Phase 1/2 clinical trials of an experimental gene-based therapy for the treatment of achromatopsia. To learn more about these studies, please visit https://achromatopsiatrials.com or www.agtc.com. Additional information may be found on www.ClinicalTrials.gov (CNGA3 trial number NCT02935517 and CNGB3 NCT02599922). 
     
  • Straudi SpA is a landmark for a wide range of artisans, among which carpenters, furniture makers, painters, coachmen and others in the North of Italy and especially among the Provinces of Bolzano, Trento, Verona, Vicenza, Padova, Mantova and Modena. Passion, professionalism and a wide range of high quality products, make our company a trustworthy partner for thousands of artisans.

    “We believed in this project at first sight, since color is our passion and we aim to bring it everywhere in the world,” says Stefano Straudi, CEO at Straudi SpA.
  • The mission of the BCM Families Foundation is to eradicate Blue Cone Monochromacy by supporting the most promising biomedical and scientific research in an effort to find a cure. BCM Families Foundation is a United States non-profit organization incorporated in May 2014 by families affected by Blue Cone Monochromacy. Learn more by visiting http://www.blueconemonochromacy.org/.
     
  • The Oliver Sacks Foundation is a nonprofit organization devoted to increasing understanding of the human brain and mind through the power of narrative nonfiction and case histories. The Foundation’s goals include working to reduce the stigma of mental and neurological illness, and supporting a humane approach to neurology and psychiatry. Learn more at www.oliversacks.com/oliver-sacks-foundation/.

Dr. Sacks, referred to by The New York Times as “the poet laureate of medicine,” was a physician, best-selling author, and professor of neurology. He is best known for his collections of neurological case histories, including The Island of the Colorblind, The Man who Mistook His Wife for a HatMusicophilia, and An Anthropologist on MarsAwakenings, his book about a group of patients who had survived the great encephalitis lethargica epidemic of the early twentieth century, inspired the 1990 Academy Award-nominated feature film starring Robert De Niro and Robin Williams.

About the Italian Achromatopsia Association
The Italian Achromatopsia Association (IAA) is a NGO operating in Italy since 1999 with over 300 direct supporters in Italy - achromats and their families. The Association is committed to raising awareness about achromatopsia and enable achromats to meet all over Europe to share their experience. The Association organizes a yearly European meeting and periodic family gatherings.

Stefania Pesavento
Italian Achromatopsia Association
stefania.pesavento@gmail.com 
+34 682 667 666