Aniridia and Diabetes / Insulin Resistance Research - Participants Needed!
Some new information has come from the metabolism studies in which we would like to investigate further. Participation is very important to get accurate numbers for this task. If you have Aniridia Syndrome and have been diagnosed with diabetes, pre-diabetes, insulin resistance etc AND are taking diabetic medications, please go to Contact Us on our website with your name, age, email and phone to participate. Or you can call us at 434-243-3357. Once we have combined our list, to participate you would fill out a short (less than 1 page) questionnaire. If you need assistance, we could have someone contact you to do it over the phone. This is time sensitive as we would like to share information at the members Make a Miracle conference in August. The questionnaire answers will be de-identified before given to researchers.
Hey AFI members - CALLING ALL POETS AND MUSICIANS
If you have ever been to our AFI members Make a Miracle conferences, you would know that occasionally we have gotten our expert doctors to show that they have more talent than just being a great physician/surgeon. They have sang and played instruments (with standing ovations!)
At our next conference in August, they have agreed to sing IF we get someone who would write a poem entitied “The Aniridia Blues” that they could put to music. Therefore, we will be holding a contest for the best “Aniridia Blues” poem. Send in your poem by May 1st to firstname.lastname@example.org with your name, a little about yourself and where we can contact you if you win.
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.
Study of Ataluren in Patients with Aniridia - Clinical Trial Continues
We are getting close to filling the maximum number of spots allowed for the Ataluren STAR aniridia clinical trial, however, the trial is still looking for candidates to be a part of this research. Contact our office if you are interested in participating.
AFI Host Walk for Sight Fundraiser at Our Make a Miracle Conference
Aniridia Foundation International (AFI) celebrated 15 years with a "Walk for Sight" fundraiser event during our 10th Make a Miracle conference in Lake Junaluska, NC. Families affected by aniridia syndrome gathered together to walk two miles around the lake, surrounded by the beautiful Appalachian Mountains.
Thanks to our sponsors, signs depicting photos and messages in support of family and friends living with aniridia were placed along the route. They helped create an atmosphere of community for the participants as they walked, talked, and took photos together.
Thank you to all who were a part of our Walk for Sight fundraiser! Donations will go toward future research and support for people living with aniridia syndrome.