AFI Attends ARVO 2015
Aniridia Foundation International attended the 2015 Association of Research in Vision and Ophthalmology (ARVO) in Denver, Colorado. We are thrilled that Yichen in the lab of Melinda Duncan, PhD was granted a major platform presentation discussing Aniridia Fibrosis Syndrome (AFS) and the work that the Aniridia Foundation International research grant is funding.
Another exciting event at ARVO was that it was announced that PTC Therapeutics would be doing a Phase 2 Proof of Concept clinical trial of the drug Ataluren (also known in Europe as Translarna). In the mouse model, it was shown to help "read through" the stop codon found in nonsense mutations. About 30-40% of children and adults have aniridia syndrome due to nonsense mutations and they could potentially qualify for this clinical trial to start before the end of the year. Watch our website for more information to come.
The AFI Medical Registry collects data including genetic data to help researchers and clinicians learn more about aniridia syndrome and make advancements faster. All data given to researchers or clinicians WILL BE de-identified with a code. Regardless of what type of mutation you or your child have, if you would like to participate and have a file in the AFI Medical Registry, please send us your documented genetic test results to the address below. If you have not gotten genetic testing of the PAX6 gene sequencing yet, contact us so that we may help you get this important information as it will be essential going forward for therapies while we work towards the cure.
Benefits of being in the Medical Registry:
- keeping important data in one place
- we go to the Medical Registry first when seeking participants for clinical trials or research studies (some are compensated studies)
- you will be helping the "team" in learning more about aniridia, finding better treatments and working towards a cure for those with aniridia syndrome
United and Working Together....We CAN Make a Difference!
AFI Awards Research Grant for AFS
AFI has awarded a research grant to investigate Aniridia Fibrosis Syndrome (AFS). This is important because it is not easily detected during clinic visits and can cause a lot of serious problems in the aniridic eye. AFI Director Jill and AFI member Sally visited the research site and suited up to meet the Pax6 mice. Spending the day with researchers Melinda and Yichen and learning the latest information was invaluable. AFI is continuing to raise funds for Aniridia syndrome research. Funding is necessary to move forward towards better treatments while working towards a cure. Our community needs to lead the way so please consider making a donation online or by check to our address listed on the contact us page. Learn more about our research initiatives here.
Nerby and Netland author Chapters in New Aniridia Textbook
It is with great excitement that Aniridia Foundation International (AFI) announces publication by Springer of a new scientific and medical textbook entitled “Aniridia”: This book contains recent published developments in scientific and clinical research. AFI Director and founder, Jill Nerby, and AFI Board member Peter A. Netland, MD, PhD were both asked to author chapters in this technical textbook. Unlike the previous book Aniridia and WAGR Syndrome: A Guide for Patients & Families (written by Nerby and colleague Jessica J. Otis), this book focuses more on the scientific and medical level for physicians, researchers, and their students. It is available worldwide in print (hardcover) or ebook download, and prices vary according to currency. In the United States it is selling for the textbook price of $189 and ebook $149.
Study of Ataluren in Patients with Aniridia - Clinical Trial Announced!
University of Virginia Dept. of Ophthalmology will be a clinical trial location.
Aniridia Foundation International is thrilled to be working with PTC Therapeutics Inc. to recruit for the upcoming clinical trial for children and adults with Aniridia Syndrome. It has been announced that University of Virginia Dept. of Ophthalmology will be a clinical trial location. All members will be receiving a letter and brochure about exciting new AFI program details. Those members participating in the AFI Medical Registry will also receive updates on this trial and other research projects as new information develops.
Nonsense and Other type of Mutations are Important to Know
Knowing your specific genetic sequence will be important for developing future therapies, child planning, research and clinical trials such as this one. This also means that even if you do not have a nonsense mutation (pre-qualifying you for this trial) having an AFI Medical Registry file including documentation of your genetic report will be a big benefit to you in the future. As always, members with files in the AFI Medical Registry will receive “first chance invitation opportunities” for clinical trials and research studies. The aniridic mice treated with Ataluren benefitted, now there is a human clinical trial. Ataluren (aka Translarna in Europe) has also been shown to benefit those with nonsense mutations in Duchenne Muscular Dystrophy (DMD) See press release outcome of that trial here.
Aniridia Clinical Trial announced
PTC Therapeutics is pleased to announce the initiation of the Study of Ataluren in Patients with Aniridia (STAR). STAR is a Phase 2, randomized, double-masked, placebo-controlled study in patients with aniridia caused by a nonsense mutation. Patients will receive masked study drug for 48 weeks followed by open-label ataluren for another 48 weeks. Safety and efficacy will be assessed. This study will be conducted in the US and Canada and sites will be enrolling patients shortly.
Patients 2 years and older weighing 12 kg. or more with a confirmed diagnosis of aniridia and documentation of the presence of a nonsense mutation in 1 allele of PAX6 gene will be considered.
Contact us if you are interested in participating or for additional study details visit ClinicalTrials.gov at this link.
AFI Awards Another Research Grant for Aniridia Fibrosis Syndrome (AFS)
Our 2015 grant brought much knowledge and verification about Aniridia Fibrosis Syndrome (AFS) thanks to those AFI members/donors who donated for AFS research. We are excited to once again grant an additional $25,000 for another six months to the lab of Melinda Duncan, PhD and Yichen Wang of University of Delaware to continue their research. Aniridia Fibrosis Syndrome is a scarring inside the eye that can rob a person of their vision and potentially their entire eye if not caught in time. We do not know how and why AFS happens which means we do not know who may become affected. We estimate that there are some people with aniridia who have AFS, but their doctors do not fully understand it. With research we can better know how to monitor, treat and defeat it before the damage is irreparable. To do this we must continue to raise research funds. Please notate AFS Research on your check or on the online donation form. All donors tagged for this will receive a laymen's explanation of what AFS is, what has been accomplished in the 2015 study and all current donors will receive updates, as well as, the final reports. See more information on Dr. Duncan and her AFS work under Research.
A Night Under the Stars, November 18th in Cary, North Carolina
Aniridia Foundation International has received $15,000 from the "A Night Under the Stars" annual fundraiser in North Carolina. We appreciate our members taking an active part in annually raising funds to help us continue the Aniridia Syndrome mission. Become active in AFI today - help you or your loved ones work towards better treatments, retaining vision and a cure.