FRR Visions
The newsletter for families and supporters of the Foundation for Retinal Research
http://www.tfrr.org/ • info@tffr.org • 1-224-927-5063 Sally Lewinski, editor
Children’s Hospital of Philadelphia enrolling LCA patients for clinical trials
A team of doctors at Children’s Hospital of Philadelphia (CHOP) has been given approval to carry out a clinical trial evaluating gene therapy for a form of Leber Congenital amaurosis (LCA) caused by mutations in the RPE65 gene. This new experimental procedure has been rigorously tested in animals since the first injection performed in the famous dog, Lancelot, in July 2000 (Lancelot is still enjoying vision and occasionally leaves his children and grandchildren at the University of Pennsylvania to attend meetings and fundraisers.) The safety and efficacy data funded, by the NEI/NIH, Research to Prevent Blindness, and Foundation Fighting Blindness, have been published in peer-reviewed journals, and have been reviewed carefully by a large set of committees, including the CHOP Institutional Review Board (IRB) and the Food and Drug Administration (FDA).
Studies in adults with this disease have initiated or soon will be initiated at other sites (Moorfields Eye Hospital and University of Florida, Gainesville). Because there may be a higher likelihood of restoration of vision in a pediatric population than in an adult population, the Principal Investigator of the CHOP trial, Dr. Albert Maguire, argued at the Recombinant DNA Advisory Committee (RAC) at the National Institutes of Health (NIH) in December 2005, that the risk/benefit ratio of a clinical trial in a pediatric population with this disease is acceptable.
There are several gene therapy studies that have been or are in the process of being performed in adults with ocular diseases. The strategies include delivery of a compound thought to inhibit blood vessel growth in individuals with the “wet” form of macular degeneration, and delivery of encapsulated cells engineered to secrete a neurotrophic factor to individuals with retinitis pigmentosa. The only ocular gene therapy trial performed to date in pediatric subjects was one aiming at treating the deadly eye cancer called retinoblastoma. Gene delivery in that trial was deemed safe, and there was even some evidence of efficacy. The trial for LCA-RPE65 at CHOP is the first study involving older children (and young adults) with retinal degeneration. If the treatment is shown to be safe in this trial, younger subjects could be enrolled in future studies. This study could also pave the way for developing treatments not only for this form of LCA but for other genetic forms of LCA and other retinal degenerative diseases.
Children’s Hospital of Philadelphia, which has been recognized by US News and World Report (and also Parents Magazine and Child Magazine) as the best Children’s Hospital in the USA for the past 5 years (http://www.chop.edu/consumer/news/story.jsp?id=86934), has been extremely supportive of the pediatric clinical trial for LCA-RPE65. A unique aspect of this study compared to studies that involve adult subjects, lies in the differences in evaluating and treating children versus adults. It is well recognized that developmentally, cognitively, anatomically, and medically, the pediatric patient is unique and fundamentally different from the adult. For example, most institutions do not have the experience that CHOP has in obtaining assent of a child (and permission of the parents) for participating in a clinical trial. Methodology and instrumentation that has been widely used in the assessment and treatment of adults have not been validated in children, and in many cases, are irrelevant. Dr. Eric Pierce, a Sub-Investigator in the LCA-RPE65 clinical trial at CHOP, has established the first Center for Pediatric Hereditary Retinal Degenerations in the USA. He and Dr. Maguire also work closely with other physicians at CHOP who have vast clinical trial experience for diseases such as Retinopathy of Prematurity and amblyopia. In addition, Dr. Maguire has clinical trial experience for a number of other pediatric and adult eye conditions, including studies involving age-related macular degeneration, retinal holes, uveitis, and the ocular complications of AIDS.
CHOP has a tradition of investing heavily in the development of new treatments which can save lives and improve the quality of life for children. Among the historical research breakthroughs that have made CHOP an international pioneer in pediatric medicine are the use of gamma globulin for prevention of hepatitis A and B, discovery of the association between infectious mononucleosis and Epstein-Barr virus infection, vaccines against measles, mumps, rubella, whooping cough and influenza, the development of a balloon catheter for use in cardiology, the invention of the isolate incubator for newborns, the first in-depth understanding of “shaken baby syndrome,” and the generation of methods for changing sickle-shaped red blood cells. The legacy of pediatric breakthroughs continues today, exemplified by the recent development and approval of the rotavirus vaccine.
Recently, CHOP established the Center for Cellular and Molecular Therapeutics (CCMT), Dr. Katherine High, Director. The CCMT is a team of highly regarded scientists and physicians engaged in development of genetic therapies. The CCMT has been working closely with the scientific director of the trial, Dr. Jean Bennett, a professor of ophthalmology at University of Pennsylvania’s Scheie Eye Institute, and Dr. Jeannette Bennicelli, a senior scientist in the Bennett laboratory, to plan this trial. The CCMT includes a Clinical Grade Vector Core, which develops the pharmaceutical grade reagents that are used in clinical trials. The Director of that facility, Dr. Fraser Wright, has extensive industry experience in generating reagents used for clinical studies in Parkinson’s disease and hemophilia. Further, Jennifer McDonnell, Dr. Valder Arruda, and other members of the Center have extensive experience with regulatory and administrative issues related to clinical gene transfer, and issues of special importance in the pediatric research population. Finally, the Center is very familiar with the practical issues that are faced in carrying out clinical trials, including logistics of travel and accommodation of children and their parents. For the LCA-RPE65 study, CCMT has engaged a first rate clinical coordinator, Kathleen Marshall, who has over 25 years experience in diagnosis and treatment of ophthalmic disorders in children. Finally, CCMT has assisted in developing an additional outcome center for this trial in Naples, Italy, so that participants from Europe can be evaluated after injection closer to home. Clinical outcome centers in additional countries, including Brazil, are in the process of being established.
The LCA-RPE65 clinical trial has also received substantial support from University of Pennsylvania’s Scheie Eye Institute and the Department of Ophthalmology and the F.M. Kirby Foundation. Several of the physicians and scientists, including Drs. Maguire, Pierce, and Bennett, have primary appointments in this Institute and their laboratories are in the F.M. Kirby Center for Molecular Ophthalmology at University of Pennsylvania.
Family to Family
By Atom and Sonja Biggs
"Your boy weighs 7 lbs., 15 oz. He would have been 8 lbs. if he hadn't peed on the way out," said the nurse jokingly. In every way our firstborn son seemed perfectly healthy and happy as he ate and grew and learned how to crawl like any other baby. At age one Brandon learned how to walk. As he became more adept at locomotion he also encountered more frequent collisions, most often with tall, slender objects like table legs, or toys and furniture that had been moved from their usual spots. We also observed strange behavior at the dinner table. When food was placed in front of Brandon, instead of looking for it he would stare off into the distance, patting around with his hand until he found his food. Was he absorbed in thought? Clumsy? Or was there something wrong with his vision?
We first brought Brandon to an optometrist who assured us that many young toddlers are bit farsighted and that as first-time parents we might be a bit oversensitive. The next 3 months were fraught with more and more accidents. Finally, after a couple of bloody collisions at Sonja's mother's home, we took him to see a pediatric ophthalmologist. Tests showed extensive retinal degeneration. "Your son is mostly blind in both eyes," we were informed, "and may lose all of his sight as he gets older."
In spite of his parents' worries and concerns, Brandon insisted upon growing up like any other little boy. He was throwing snowballs, hiking trails, and assembling his new baby brother's crib. When we informed Brandon that he would never be able to drive a car, he developed a determination to somehow obtain a car. At age 5 Brandon started raising baby hamsters and selling them to the pet store. With the money he raised from hamster sales and from watching over his new baby brother Brandon bought himself a kidsize electric jeep. He spent hours puttering around our spacious back yard, his little brother belted into the passenger seat.
Atom tried unsuccessfully to teach Brandon, at age 6 how to stay up on a bicycle. But Brandon wasn't ready to give up. All winter long Brandon practiced in the basement of his house, and that spring he emerged outside riding like a champ!
Brandon continued to grow up with a spirit of determination and tenacity. Joining 4H, he showed first hamsters, then chickens, lambs, and rabbits. Loving to receive awards Brandon quickly plastered his walls with ribbons, plaques, and trophies. He was competitive in track & field and cross country running. But when Brandon said he wanted to try out for 7th grade basketball Dad drew the line, because he could see neither the ball nor the basket. But Brandon was determined. He arranged a meeting of his parents, teacher, the principal, and coach, and pled his case for equality. He won. Brandon was the team's top guard and played every game.
Brandon's voice had always been clear and distinct, frequently loud. Not surprisingly, he joined the regional speech contest and won. Then he performed in a school musical and enjoyed himself immensely. So he put all of his savings toward performing arts camp for the next summer, auditioned, and was in. That was just the beginning of his drama fever. Since then Brandon has performed in six musical productions including Oliver, Cinderella, and now Beauty and the Beast. His dream is to make acting his career.
Brandon's path has rarely been a smooth one. From his numerous scrapes and scars he can outline his life's story. And perhaps the most difficult obstacle Brandon has had to face has not been his poor eyesight. It has been the limits placed on him by those of us who have sight. But Brandon meets all prejudice and obstacles head on with humor, a positive spirit, and a strong faith believing that God is with him. When one door is locked tight he finds another door that will open. Brandon continues to be a real inspiration to all of us.
Support FRR this Holiday Season
By Amber Bobnar
As the holidays approach, some of us just dread the thought of writing out that long shopping list and racking up painful charges on our credit cards. But what if you could finish your holiday shopping weeks in advance, give meaningful gifts to all your loved ones, and help FRR make a difference all at the same time?
In place of scented candles or 2008 calendars, consider giving tribute gifts to all your friends and family this year. Tribute giving, sometimes referred to as honor giving, is the donation of money to a charity in someone else's name. Instead of fighting your way through the malls this December, simply donate your holiday budget to FRR and do away with all the stress – and January returns, too!
And what about what everyone is getting you this year? Why not turn this season into a sort of FRR Holiday Campaign? Get all of your friends and family in on the event by pledging to both give and receive as many tribute gifts to FRR as possible this year. You could even begin an annual tradition of giving and try to top your total donation amount each year.
If organizing an entire holiday event sounds too daunting, you could always just throw a simple holiday party and ask that each guest donate a bit of holiday cheer to an FRR Holiday Donation Bowl set in the middle of the hors doeuvre table. This way there's less pressure to give, but you can still end up making a difference by the end of the evening.
But you don't have to stop there. There are many ways to bring people together to help FRR, especially over the holiday season. Can you get your child's school to organize a giving event? Or maybe your local church? Remember, 'tis the season to spend time with your loved ones, help others in need, and give when you can.
And if tribute giving can also help relieve your holiday stress, all the merrier! For more information about tribute giving or organizing a fundraising event, visit the FRR website at http://www.tfrr.org/.
PROJECT 3000 and You!
By Heather Scherber, Project 3000
Just over one year ago, Chicago Cubs’ Derrek Lee, received the news that many of you are all too familiar with: their child was visually impaired due to LCA.
They met with Dr. Edwin Stone, director of the University of Iowa’s Carver Family Center for Macular Degeneration, partnered with Wyc Grousbeck (owner of the Boston Celtics, whose son has LCA) and formed Project 3000.
Since that time, Project 3000 has been blessed with the support of the Cubs organization, the Foundation for Retinal Research, generous individuals, and numerous families affected by LCA.
Today we are proud to say that together we ARE making a difference! The following are highlights from the past year.
We’re Being Heard!
There has been a tremendous increase in awareness of LCA. The combination of press conferences, news reports, pre-game and intra-game interviews, and numerous Project 3000 Days at Wrigley Field and many minor league baseball parks have reached millions of people with this message: “There is something you can do”. Website hits, emails and phone inquiries about genetic testing for LCA have increased ten-fold since Project 3000 began.
Medical Support is Growing!
The directors of every ophthalmology training program in the U.S. have been contacted and informed about Project 3000. Dr. Stone will present a talk about LCA to the opening session of the annual meeting of the American Academy of Ophthalmology in New Orleans this November.
Testing is Faster!
The molecular methods that underlie the genetic test for LCA have been extensively refined and improved so that the chance of finding the specific molecular cause for an individual patient with LCA is now nearly 70% (up from about 50% one year ago). Even though additional genes have been added to the assay, the full test can now be performed 43% faster than it could one year ago.
We Can Test Every Sample!
The infrastructure of the Carver Laboratory has been dramatically increased so that samples from all remaining LCA patients in the U.S. could be received in a single year if these individuals could be identified and were willing to submit samples.
Funding is at an All Time High!
More than $1M in philanthropic support for Project 3000 has been raised in the past year. A “no overhead” mechanism has been devised for handling these gifts through the University of Iowa Foundation. As a result, these funds are sufficient to provide state-of-the-art genetic testing for over 1000 families who lack insurance coverage or personal resources to pay for the testing themselves.
More Samples are Coming in Than Ever Before!
More than one sixth of the LCA patients in the US have already been tested for mutations in the known genes, and the results of this testing have been summarized and accepted for publication in a scientific journal. New samples from LCA patients are being received by the Carver Labs at 5 times the rate they were before Project 3000 began and in the past 12 months, LCA samples have been received from 22 different states.
We’re Moving Forward!
A large volunteer infrastructure has been built for contacting LCA patients on a state-by-state basis. In the first year, specific emphasis has been placed on developing this infrastructure in Iowa, Illinois, Massachusetts, California, New York, Florida, Texas, and Kentucky. These eight states represent more than 40% of the population in the U.S. In many states, the Lions Clubs have been engaged as partners. A full-time external relations director has been hired to oversee these efforts from Iowa City.
We’re Getting the Word Out to 11 Million People!!
On January 17 the hit show “ER” will feature an LCA awareness episode! Although the story line has not been completely developed, it will feature a child being tested and diagnosed with LCA. To close the episode, there will be an informational piece on Project 3000. *Air Date is Subject to Change
If you would like more information on Project 3000 or, to join our mailing list, please contact us in one of the following ways:
Visit: http://www.project3000.org/ or http://www.1sttouch.org/
Write: 1st Touch Foundation
5921 Maleville Ave
Carmichael CA 95608
Call: Heather Scherber,
Development Associate
(916) 212 -0312
SAVE THE DATE!
Next FRR Family Conference will be in August 2008 in Cleveland!
More information will follow. Please check http://www.tfrr.org/!
A Cinderella Story
Brandon Biggs takes on several roles in the summer musical, `Cinderella’
From: Walla Walla Union-Bulletin, WA, July 15, 2007
By: Andy Porterof
DIXIE - Brandon Biggs may be nearly blind, but that doesn't stop him from seeing himself as an actor.
Among the cast for the summer musical ``Cinderella,'' Biggs sings and dances his way through several roles in the play. Although the audience can see him, only a few on the other side of the footlights may know he can't see them.
Visually impaired since birth, the curly-haired 15-year-old has refused to consider his blindness a handicap, said his parents, Atom and Sonja Biggs.
It hasn't dented his sense of humor either.
``We do everything we can as parents to support him,'' Sonja said last week at the family's home in Dixie.
``Except for driving,'' Brandon quipped from where he was sitting on a couch.
``And when he wanted to make his own fireworks, we wouldn't let him,'' his mom added.
Medically speaking, Brandon's condition is diagnosed as Lieber's congenital amaurosis. He can discern vague shapes and color, but not detail, although his peripheral vision is more acute than his frontal sight.
But the condition has not stopped his son from pursuing interests that have run from raising lambs to earn tuition for acting camp to competing in multiple sports, Atom said.
``He runs three miles a day and then does weight training,'' his father noted. Brandon also does his share of chores on the family's country home alongside his younger brother, Joshua.
According to Atom and Sonja, the acting bug bit Brandon early.
``Growing up, he's always been the one to be the storyteller,'' Sonja said.
The urge to act led to roles in school plays in Dixie and Waitsburg and then, last August, a summer course with the Missoula Children's Theater performing arts camp in Missoula, Mont., followed by a role at Dayton Liberty Theater in the production of
``Oliver.''
Brandon will return to acting camp again this year and then will begin rehearsals for the part of the prince in Touchet Valley Arts Council's production of ``Beauty and the Beast.''
In ``Cinderella,'' Brandon has to stay on his toes, given that his roles are listed as ``footman/ball attendant/assistant steward/guard.''
Among challenges he has faced have been memorizing how and when to react to gestures by his fellow cast members to learning where props are placed so he doesn't collide with them.
``Cinderella'' director Paul Wickline said that in working with Brandon, the safety issue was a concern ``but everything else was up to him.''
``It's dangerous out there (on the stage).'' Wickline said. ``There's all kinds of sharp corners and potholes. So what we tried to do was have him in things we knew he could do successfully and safely'' during action on the stage.
Wickline said another aid has been to have Brandon paired with other actors during scenes so he can physically relate to his surroundings and act accordingly.
While the on-stage action is one thing, Brandon said, his fellow cast members ``all worry about when I'm walking around backstage,'' concerned that he may trip and fall over a wayward prop.
``You should be carrying your cane when you're back there,'' Sonja said.
``I've got a spear. It works the same,'' Brandon said with a smile.
Moving to Perkins
Why Community Support Means So Much To The Bobnars
By Amber Bobnar
We attended the Hawaii Association for Parents of the Visually Impaired's annual conference in 2006. HAPVI (along with the Hawaii Association for the Blind – HAB) had invited many state and federal representatives to attend the conference and explain to the members why so little was being done to help the blind, especially blind children, in Hawaii. Public transportation was a joke, the public schools were under funded and under staffed, and there was not a single TVI employed in the entire state to work with blind children aged zero to three. And nothing was being done to hire one!
What was the response? Beside much evading, hollow promises, and empty apologies, we heard one phrase repeated over and over: "Blindness is a low incident disability."
It may be a poor excuse, but nonetheless it is true that blindness is a low incident disability. 3% of the U.S. population is blind or visually impaired and only .4% of the general population is considered legally blind. If you look at the number of blind children in the U.S. (only .01% of the general population), you can begin to understand why many government officials just can't seem to find the time to staff or fund programs for visually impaired children.
So what did we do? We tried our best to fight the system (and I like to think we made a few waves), then we moved.
We now live in Watertown Massachusetts and the difference couldn't be greater. Watertown is home to the oldest School for the Blind in the country, Perkins. The great thing about living so close to Perkins is that the town is very accessible and blindness isn't a "low incident" anymore.
Why is this important to us? On the surface, it means that signs around the school announce to motorists to slow down and be aware of white canes. It means that crosswalks talk to you (they say "please wait" after you press the button) and so do busses (by announcing every stop on a clear overhead speaker).
But much, much deeper is the attitude of the community. Our son, Ivan, is no longer the only baby who is blind in town; in fact, white canes and seeing eye dogs are pretty common. People here aren't afraid of blindness like they often where in Hawaii.
Most telling is the response we receive from people who have just learned that Ivan is blind. In Hawaii the attitude was dire, like we were suddenly at a funeral: "Oh, no. I'm so sorry. That's terrible." This always upset me because I knew that, even as an infant, Ivan was forming his identity and would begin to associate his blindness (and maybe even himself) with this grim reaction.
But in Watertown it's been the exact opposite. When we meet someone new and mention Ivan's blindness, they light up: "Oh! Is he going to Perkins? That's wonderful! It's such a great school!" The people in Watertown are so proud of Perkins and it shows in their attitude. They smile, touch Ivan's hand, and begin the conversation on such a positive note. I know that this is just our experience, but living in such an open and understanding community has really helped us a lot. Moving so far away from home was a big decision (and don't worry, we do have lots of family in New England, too), but we wanted to do what was right for Ivan. I really believe community support will mean a world of difference for Ivan as he matures here at Perkins.
(Oh, and the school really is great, too!)
Brooke Pernice releases music CD about LCA, blindness
Note: Brooke Pernice is the daughter of PGA Tour golfer Tom Pernice Jr., and also has LCA. She recently put out her own CD of music. It is available at her website, http://www.brookepernice.com/
I am Brooke Pernice, I am 12 years old and here's my story. I have always had a personal relationship with our Lord and Savior Jesus Christ. When I was seven years old, the good Lord spoke to me and said I would lead a worldwide ministry through music. I took this message seriously and started taking vocal lessons to work towards my future.
Last September, the Lord sent some lyrics to my mother. My vocal coach and I reworked the lyrics slightly and the song "Standing on My Own " came to life. This song is a tribute to my sister Kristen. As the lyrics kept coming our way, my life was put to a song. I am blind and do see the world differently, as I like to say through song, I see the world, "From the Inside." The Lord spoke to me again in the fall and told me it was time to start doing concerts and public speaking. My debut CD tells my life through song.
God Bless you all. Brooke Pernice
‘Special Kids Network’ golf outing raises $160,000 for children
The Special Kids Network, held its Annual Tennis and Golf event, August 6, 2007, at Twin Orchard Country Club in Long Grove. The 225 golfers, were not deterred by inclement course conditions from having an outstanding day. The golf outing was sponsored by Highland Park’s, Morris Silverman and Family, who also hosted the event at Twin Orchard. The evening before the event, Gibsons Restaurant at their Luxbar location hosted a dinner for Special Kids Network celebrity guests and sponsors. Joe Giardi, former Chicago Cub and 2006 Major League Baseball Manager of the Year, acted as the Golf-Outing Honorary Chairperson. The Women’s Tennis event was held in cooperation with the Midtown Athletic Club. The 35 women were treated to a fun-filled day with prizes handed out from Honorary Chairperson, Kathy Hart; from the Eric & Kathy Show - The Mix 101.9 FM. Billy Jaffe (Highland Park Native) and current Color Analyst for the New York Islanders on Fox Sports Network, New York acted as the Master of Ceremony. Among the other sports and media celebrities who played with various foursomes were, Trent Yawney, former Head Coach of the Chicago Black Hawks; Mark Giangreco of Channel 7 Sports; Eric Soderholm, former Chicago White Sox player; Jeremy Roenick, of the San Jose Sharks; Paul Popovich, former Chicago Cub player; Bob Murray, Senior Vice President of Hockey Operations for the Stanley Cup Champion Anaheim Ducks; Joe Corvo (Oak Park Native), and player for the 2007 Eastern Conference Champions, Ottawa Senators, and Emery Moorehead, from the Chicago Bears Super Bowl team.
The event raised approximately $160,000.00, for the recreational programs of Keshet, which serves children and young adults with physical and developmental disabilities, as well as the Pediatric-Gastrointestinal Research Foundation at the University of Chicago Hospital, National Stuttering Association, Foundation For Retinal Research, and Glenkirk.
The event was co-chaired by Garry Benjoya of Buffalo Grove; Trevor Brody of Chicago; Bonnie Brickman, Chad and Debbie Coe, and Scott Rudin of Deerfield; Steve Hara and Greg Solk of Highland Park; and Michael Rosen of Northbrook, and Steve Strumpf of Weston, Florida. The days festivities included, lunch and dinner, and a silent and live auction. Top premium items included, a trip to the Lexis Tournament of Champions at the Pebble Beach Golf Club. The Great Escape donated a spa, and a white gold diamond bracelet was donated by Shelle Jewelers of Northbrook. Guests also received a party favor from local Bannockburn Company, “Zizzle,” called “Lucky,” the Incredible Wonder Pup.
Frank and Alisha Lieberman of Deerfield, and Bari and Marc Levin of Buffalo Grove, were inducted into the Special Kids Network Hall of Heroes for their commitment, hard work, and generosity to children’s charities. Next year’s event will be held Monday, August 4, 2008, at Twin Orchard Country Club in Long Grove. For information, visit http://www.specialkidsnetwork.org/.
The Special Kids Network is an official sponsor of the FRR newsletter.
Visit their website at http://www.specialkidsnetwork.org/
Can you believe everything that is going on in our world these days?
David Brint
USA Today does a feature on Derrek Lee and LCA. There are three gene therapy trials proceeding that are getting the attention of Time and Newsweek. The television show ER will feature a character with LCA in a January episode. Over twenty families are doing events to raise money and awareness for LCA. The FRR Associate Board has formed and is meeting regularly to foster grass roots activities and that has all happened within the last six months. Imagine what tomorrow will bring. The message this quarter is simple. Everything all of us are doing is making a difference. We all live with the delicate balance of living in the present and imagining the future. It is hard for me to tell how you are dealing in the present but if it is anything like what is being done by all of you for the future you all better get some sunglasses because the future looks bright.
