The Road to Treatment: Understanding How Therapies Are Developed

Successful clinical drug trials are a cornerstone of U.S. Food and Drug Administration approval, such as with LUXTURNA™, a ground-breaking genetic therapy that helps restore vision in Leber congenital amaurosis (LCA) patients with a mutation in their RPE65 gene (LCA2).

But the FDA’s Dr. Wiley A. Chambers II cautioned LCA families and patients at a recent LCA Family Conference hosted by Hope in Focus (formally Sofia Sees Hope) to make sure their clinical trial of interest is real and not bogus.

Clinical trials drive research with the goal of finding treatments or cures that need FDA approval before commercial use. Twenty-three gene-based clinical trials targeting 13 genes are underway, including an LCA4 (AIPL1) trial, according to Foundation Fighting Blindness. More than 20 retinal cell therapy trials are in progress, and another 100 genes are under investigation in the preclinical pipeline, the Foundation reported.

Dr. Wiley Chambers II, MD

Chambers is supervisory medical officer in the Office of New Drugs in the FDA’s Center for Drug Evaluation and Research. The center’s mission is to assure that safe and effective drugs are available to the American people.

He was among three panelists who joined moderator Jeffrey Finman, PhD., of Jupiter Point Pharma Consulting, in exploring the development and approval of new treatments for rare diseases, including LCA. The panel was part of Sofia Sees Hope’s first-ever LCA Family Conference in Groton, CT, on Oct. 6.

Jennifer Hunt with Editas Medicine, a discovery-phase biotechnology company, and Tami Morehouse, a participant in the breakthrough LCA2 (RPE65) genetic therapy trial joined Chambers on the panel.

Not all trials are ‘real’

“Be aware of any trial where you’re charged for the drug or biologic product,” Chambers said. “If they’re charging you, watch out.”

He said every clinical trial is assigned an Investigational New Drug (IND) number. No number, no real trial.

Chambers sited the disastrous case of a 77-year-old woman who traveled to Georgia to have stem cells injected in her eyes in the hopes of a cure or at least help for her macular degeneration. The procedure entailed taking fat from the woman’s belly, separating stem cells that naturally occur in fat, and injecting them into her eyes to regenerate damaged tissue.

The procedure, not covered by insurance and not approved by the FDA, cost the woman $8,900. Within three months, her retinas – the eye’s layer of light-sensitive cells – had peeled away from the rest of her eyes. Her vision deteriorated to where she only could see hand movement before her eyes. She no longer could find her way on her own.

Risks vs. benefits

To fulfill its mission, the FDA monitors the drug development process during investigational stages, approves new drug products that are safe and efficacious, and monitors post-approval adverse events.

The FDA does not conduct clinical studies, choose which products a company will study, force companies to market products, or regulate the practice of medicine.

Approval depends on whether the benefits of a drug outweigh the risks.

“There is always a risk,” Chambers said. “If it does anything positive, it does something negative…It’s a balancing act.”

The factors weighed in this balancing act of forces and interests, clinically referred to as equipoise, consist of:

the potential benefit from the drug product;
the potential adverse event from drug;
the potential safety from not taking a new drug;
the potential loss from disease condition if not taking an effect therapy;
and missing out on an alternative therapy.

Exploring different routes to a cure

Panelist Jennifer Hunt, vice president of clinical operations for Editas Medicine, described the process of developing a medicine that corrects mutated genes through editing. Using her company’s investigational medicine, EDIT-101, as an example, she detailed the course for finding an ocular medicine to treat patients with LCA10 (CEP290). LCA10 is one of the leading causes of blindness beginning in the first years of life.

Editas is working on developing CRISPR-based medicines (pronounced crisper, and meaning Clustered Regularly Interspaced Short Palindromic Repeats). CRISPRs are specialized stretches of DNA; the protein Cas9, meaning CRISPR-associated, is an enzyme that acts like a pair of molecular scissors, capable of cutting strands of DNA, according to LiveScience.

EDIT-101 is poised to be the first in vivo CRISPR medicine used in human trials. Before those clinical trials begin, researchers have been looking to answer key questions, such as, does editing restore protein expression in cells and what are the best clinical trials for patients?

Editas researchers also are conducting an ongoing natural history study with 40 patients, ages 3 and older. They are followed up with six times over the course of a year at seven sites – four in the United States and three in Europe – to characterize them, assess their vision changes and validate study endpoints.

Editas has stated it plans to file an Investigational New Drug (IND) application with the FDA in October. Once allowed by the FDA, Editas can begin clinical trials.

The FDA evaluates three study phases of a proposed new drug:

Phase 1 investigation of new drugs in humans is a phase of research to describe clinical trials that focus on the safety of a drug. They are usually conducted with healthy volunteers, and the goal is to determine the drug’s most frequent and serious adverse events and, often, how the drug is broken down and excreted by the body. These trials usually involve a small number of participants.
Phase 2 consists of research to describe clinical trials that gather preliminary data on whether the drug is effective in people who have a certain condition/disease. Participants receiving the drug may be compared to similar participants receiving a different treatment, usually an inactive substance, called a placebo, or a different drug. Safety continues to be evaluated, and short-term adverse events are studied.
Phase 3 research is to describe trials that gather more information about a drug’s safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. These studies typically involve more participants.

The human side of a drug trial

The third panelist, Tami Morehouse, spoke to the safety and effectiveness of LUXTURNA, a medication developed by Spark Therapeutics that the FDA approved last December for commercial use. Tami made medical history at age 44 when she became the oldest person to participate in the successful Phase 1 LCA-RPE65 genetic therapy clinical trial in 2009.

Dr. Jean Bennett and her husband, Dr. Albert Maguire successfully used the treatment on Lancelot, a dog born blind with a mutation in his RPE65 gene, before testing the medication on humans.

Prior to the trial, Tami could see faces, but much of the time she saw dark, gray haze. She woke up every morning when her alarm clock went off, wondering, would this be the day she would wake up with no vision.

“I had no hope whatsoever,” she said.

Her husband, Michael, added, “That’s where she’d be today were it not for that trial.”

Michael learned of Dr. Bennett and her ongoing clinical trials at Children’s Hospital of Philadelphia (CHOP) from a radio broadcast.

The trials resulted in FDA approval of LUXTURNA, a gene therapy that enabled Tami to regain some of her vision.

“It was an incredible experience that was a long time coming,” she said.

Tami said she is “walking, living proof” of the treatment’s safety and effectiveness. She told her audience to keep in mind that older people, along with children and young adults, can benefit from the treatment.

“Don’t give up hope and keep looking.”

IRD Milestones: Reasons to Be Excited

1971 – Just those numbers in white on a black page appeared on the big screen.

That’s how Brian Mansfield, PhD., began his presentation to families and patients living with Leber congenital amaurosis at Hope in Focus (formally Sofia Sees Hope) LCA Family Conference on Saturday, Oct. 6, in Groton, CT.

The year on that otherwise empty page marked the founding of Foundation Fighting Blindness – a time when patients losing vision often heard, “Go home. Learn Braille. You are going to go blind.”

Mansfield’s audience at the conference was made up of people diagnosed with a variety of rare inherited retinal diseases, including LCA, their caregivers and relatives, and representatives of various bio-tech and pharmaceutical companies working in the IRD arena. It was Sofia Sees Hope’s first such conference.

Dr. Brian Mansfield

Mansfield is the foundation’s senior vice president of research. He brought his audience up to date with information about clinical trials for inherited retinal diseases (IRDs), the rich preclinical therapeutic pipeline, how the Foundation uses money to move treatments forward and what people can do to drive change for IRD treatments and therapies.

His presentation culminated in a projected slide filled with logos of bio-technology and pharmaceutical firms, many of which are in contact with the Foundation, and represent the ever-expanding research and development field to help people with visual impairment.

$725 million in funding

In its 47 years, Foundation Fighting Blindness has raised more than $725 million toward research, development and public health education. It partners with several dozen U.S. non-profit organizations, including Sofia Sees Hope.

Mansfield traced the rapid trajectory of identifying genes causing retinal disease, from the founding of the National Eye Institute in 1968 through the Foundation’s funding of the Berman-Gund Laboratory for the Study of Retina Degenerations in 1971. It included the 1989-90 work identifying the rhodopsin gene as the genetic cause of Retina Pigmentosa (RP), and conducting the first retinal disease gene therapy trials in 2007. And of course culminated in last December’s federal approval LUXTURNA™, a gene therapy that helps restore vision in people with LCA2 (RPE65).

For people affected by LCA, more than 80 percent can now get a clear genetic diagnosis. For IRDs, more than 260 retinal disease genes have been identified, and the overall success in providing a clear genetic diagnosis is 65 percent.

Mansfield said that 23 gene-based clinical trials targeting 13 different genes are currently underway, including the LCA4 (AIPL1) gene trial by MeiraGTx.

A promising pipeline

He said the gene therapy preclinical pipeline is promising, with 100 genes under investigation. Researchers also are conducting preclinical studies of optogenetic gene therapies, in which light is used to control genetically modified retinal cells.

ProQR is planning a pivotal Phase 2/3 gene patch clinical trial for the LCA10 (CEP290) gene that involves injecting a short DNA molecule to cover up the faulty instruction the gene otherwise gives to act incorrectly. Also, Mansfield said, Editas Medicine is close to gene editing clinical trials, called “cut and paste” because an enzyme seeks out and repairs the defective gene. Another editing therapy in the pipeline, called base editing, essentially backspaces over the mutation and types the correction over it.

Also underway are more than 20 retinal cell therapy trials in which lost cells are put back to replace missing cells or used as biofactories to produce factors that help stabilize the retinal cells.

To help propel research and trials, the Foundation funds Career Development Awards to attract and retain clinician researchers dedicated to retinal disease research. The Foundation also provides awards to the brightest minds in the field, individually or as a team, to drive research.

It also gave 16 years of preclinical research support amounting to $10 million toward Spark Therapeutics’ commercial gene therapy, LUXTURNA, the first directly administered gene therapy approved in the United States that targets a disease caused by mutations in a specific gene – LCA RPE65.

Mansfield talked about how Applied Genetics Technology Corp. (AGTC) leveraged an early Foundation investment to garner $265 million to develop genetic therapies, some of which are in clinical trials.

The Foundation also supports 20 centers – the International Clinical Consortium – that have standardized assessment protocols for clinical trials.

Patient involvement is key

To continue to attract industry interest, Mansfield detailed the Foundation’s My Retina Tracker registry, with its tagline “Track your vision. Drive the research.” It’s a free, secure, online patient registry that notifies registrants of clinical trials and gives researchers access to their disease data – but not their personal information – to advance studies on any number of research and therapy development efforts associated with IRDs.

The power of My Retina Tracker is optimized by registrants getting a genetic diagnosis. Sofia Sees Hope donated $65,000 to help people receive genetic testing and counseling.

Mansfield emphasized to his audience the vital importance of their knowledge, what they carry with them, and that patient input is critical to drug development.

2018 LCA Family Conference Presentations

Children with canes and their parents smiling — 2018 LCA Family Conference Attendees

On October 5-6, 2018, Hope in Focus (formally Sofia Sees Hope) held its first Family Conference for LCA and IRD families and caregivers. Thank you to all who attended and thank you to our sponsors, who made it all possible!

This event was the culmination of our first five years of work and fulfills our mission to connect LCA and IRD patients and families to researchers, industry experts and others who are keenly interested in LCA and and rare inherited retinal diseases. The goal of this conference was to get you excited about advances in research, deepen your understanding of the roles various organizations play in developing treatments, and provide insight into how an active patient community can support and accelerate treatment.

Below is the description of the panels and included are the presentations given by some of the speakers.

IRD Milestones: Reasons to Be Excited

Dr. Brian Mansfield, Senior Vice President of Research, Foundation Fighting Blindness

At no time in history has there been more promising research applied to genetically inherited eye disease.
Hear from our partners at the Foundation Fighting Blindness about how much easier it is today to access
genetic testing and genetic counseling and the exciting research and trials that are underway.

Download the presentation.

The Road to Treatment: Understanding How Therapies Are Developed

Moderator: JEFFREY FINMAN, Jupiter Point Pharma Consulting, LLC, Board Member, Sofia Sees Hope
Panelists: • DR. WILEY CHAMBERS, Supervisory Medical Officer in the Office of New Drugs at the FDA
• JENNIFER HUNT, Vice President of Clinical Operations, Editas Medicine
• TAMI MOREHOUSE, Phase 1 RPE65 Trial Subject RPE65 genetic therapy trial

From research to federal approval, what does it take to develop and approve a new treatment for rare disease? We’ll explore the regulatory, clinical, and industry aspects so you have a deeper understanding of what is involved in developing treatments, including how rare disease is different.

Download Dr. Chambers’ presentation.

Download Editas presentation.

Thank You to these speakers and organizations for their participation!

Kristen Angell, Associate Director, Advocacy, National Organization for Rare Disorders (NORD)
Beth Borysewicz, TVI for State of Connecticut and Sofia Sees Hope Board Director
Dr. Wiley Chambers, Supervisory Medical Officer in the Office of New Drugs at the U.S. Food and Drug Administration
Michael & Sela Cornell, Father and daughter from Chicago
Jill Dolgin, Head of Patient Advocacy, AGTC
Jeffrey Finman, Jupiter Point Pharma Consulting, LLC and Sofia Sees Hope Board Member
Jennifer Hunt, Vice President of Clinical Operations, Editas Medicine
Dr. Brian Mansfield, Senior Vice President of Research, Foundation Fighting Blindness
Tami Morehouse, Phase 1 RPE65 Trial Subject RPE65 genetic therapy trial
Jamie Ring, Head of Patient Advocacy, Spark Therapeutics

LCA Family Conference: The Role of the Patient Voice

Hope in Focus (formally Sofia Sees Hope) is holding its first LCA Family Conference on Saturday in Groton, CT. This event is the culmination of our first five years of work and fulfills our mission to connect LCA patients and families
to researchers, industry experts and others who are keenly interested in LCA and and rare inherited retinal diseases.

The goal of this conference is to provide updates about advances in research, deepen understanding of the roles various organizations play in developing treatments, and provide insight into how an active patient community can support and accelerate treatment.

We are pleased to welcome Jamie Ring, Head of Patient Advocacy, Spark Therapeutics; Jill Dolgin,
Head of Patient Advocacy, AGTC; Kristen Angell, Associate Director, Advocacy, National Organization for Rare Disorders (NORD) to our panel, “The Role of the Patient Voice in Developing Treatments for Rare Disease.”

Kristen Angell took a few minutes recently to chat with us about her work.

Kristen Angell, NORD

Angell’s devotion and exuberance in her work with people with rare disease is literally in her DNA. A graphic designer by trade, life carried her in a different direction when she began volunteering for local non-profits. Shortly after, when her mother was diagnosed with breast cancer, Angell “dove in feet first.”
Then her father was diagnosed with stage 4 pancreatic cancer. Her cousin, who is her best friend, has cystic fibrosis, and later her sister was diagnosed with a rare blood cancer.

“Rare disease has always been common in my family,” she said. “Rare diseases in general don’t have a lot of research and funding, so I ran with that and began networking and started learning about rare diseases. I decided I wanted to do more in the community. I had a passion for patient advocacy.”

Before joining the National Organization for Rare Disorders (NORD), Angell got her first taste of volunteer advocacy when she worked on federal legislation resulting in the 2012 Recalcitrant Cancer Research Act requiring the National Cancer Institute to develop scientific framework for pancreatic and other deadly cancers.

Angell, NORD’s Associate Director of Advocacy since 2014, works with rare disease patients, families, industry leaders, medical professionals and legislators spanning the 50 states on public policy and advocacy initiatives to improve the lives of those affected by rare disease.

Angell runs NORD’s Rare Action Network that has 5,000 members nationally and ambassadors in 31 states. NORD, a voice for the 30 million Americans with rare diseases, is the official U.S. sponsor of Rare Disease Day, which takes place the last day of February each year.

She works to empower patient advocates, making sure they have the tools and resources to educate the community and to join the Rare Action Network. She helps advocates set up meetings with elected officials and overcome their fear of talking to policy makers.

She said it warms her heart that she can help her family and others who live with rare disease.
“I literally say I am one of the luckiest people,” she said. “I have the best job and I look forward to going into work each day.”

LCA Family Conference: The Road To Treatment

We are pleased to welcome Jeffrey Finman, Jupiter Point Pharma Consulting, LLC, Board Member and

Sofia Sees Hope; Dr. Wiley Chambers II, Supervisory Medical Officer in the Office of New Drugs at the FDA; Jennifer Hunt, Vice President of Clinical Operations, Editas Medicine; Tami Morehouse, Phase 1 RPE65 Trial Subject RPE65 genetic therapy trial, to talk about the The Road to Treatment: Understanding How Therapies Are Developed.

Dr. Chambers took a few minutes recently to chat with us.

Dr. Wiley Chambers II, MD

Wiley Chambers planned to join his ophthalmologist father in Connecticut after his residency at George Washington University Medical Center. But word got around the Washington, D.C., medical community that the Food and Drug Administration had no ophthalmologists; he thought he’d give the job a try for a year or two. He could always go to Connecticut.

Thirty-one years later, and having married a lobbyist along the way, Chambers remains in D.C. at the FDA where he has held multiple positions that have all included reviewing ophthalmology products. He has received numerous Public Health Service, FDA and Center for Drug Evaluation and Research awards for his work at the agency. Since 2011, he has been Deputy Director of the Division of Transplant and Ophthalmology Products, Office of New Drugs, in the FDA’s Center for Drug Evaluation and Research. As a Supervisory Medical Officer, he is usually the final person to review and sign off on new proposals before the beginning of clinical trials.

The FDA is involved anytime anyone wants to use an unapproved drug in humans or an approved drug for a different use in humans.

Chambers has clinically reviewed more than 100 ophthalmology drugs that have received FDA approval, including the first gene therapy “done inside a person,” as he said, in the form of LUXTURNA™, approved in December. The drug is a human-engineered virus, injected under the retina in the back of the eye, which contains a healthy version of the RPE65 gene that causes blindness in patients with Leber congenital amaurosis (LCA).

You won’t hear Chambers describe LUXTURNA as groundbreaking or extraordinary. He does not care for the superlatives, because every product that helps an individual is important to the person that it helps. Instead: “If it’s safe and effective, that’s what I care about most.”

In the study process, he said, reviewers and the company that makes LUXTURNA, Spark Therapeutics, ultimately came up with a maze for patients to navigate. “The issue was not how quickly you got through it. The issue was, could you navigate the maze in a lower level of light?”

He called the review and approval process of the medication “routine,” except for the endpoint.
“The endpoint was different than one we used for any other drug product – the ability to navigate in low light. We had never approved something for that before.”

Ultimately, Chambers says, his goal is to have cures, saying “Treatments are OK, but I’d much prefer cures.

LCA Family Conference: IRD Milestones

Hope in Focus (formally Sofia Sees Hope) is holding its first LCA Family Conference on Saturday in Groton, CT. This event is the culmination of our first five years of work and fulfills our mission to connect LCA patients and families to researchers, industry experts and others who are keenly interested in LCA and and rare inherited retinal diseases.

We are pleased to welcome Dr. Brian Mansfield, Senior Vice President of Research with Foundation

Fighting Blindness, who will speak on “IRD Milestones: Reasons to Be Excited.”

Mansfield joined the Foundation Fighting Blindness a little more than seven years ago and, while he was excited about his new job, he lamented the absence of therapies for genetic eye diseases.

Dr. Brian Mansfield

For years, affected people were told: “Go home and learn Braille; there’s nothing we can do for you,” he recalled. But the foundation was committed to changing that message.

A mere seven years later, the treatment landscape for inherited retinal diseases (IRDs) has changed dramatically, with multiple clinical trials offering patients hope and improved vision. When FFB started 47 years ago in 1971, researchers were just at the very start of understanding the complexities of IRDs and had little knowledge about the genetics of the diseases.

Now, Mansfield said, more than 260 genes are involved in these diseases, and probably more. “We’re learning about the genetics of the diseases all the time.”

As Senior Vice President of Research, Mansfield implements the foundation’s scientific research strategic plan and leads scientific assessments of new technologies, treatments and therapies for retinal degenerative disease. He also leads the My Retina Tracker patient registry team and the foundation’s genetic testing study.

“The challenge for me is to see how we can try and continue this program,” he said. “It’s a very expensive program. It’s a very valuable program.”

People registering take an active role in advancing research to find treatments and cures for specific rare inherited retinal diseases, affording the opportunity to join others and “stand up and be counted.”

The foundation’s expanded testing program, helped in part by a $65,000 donation from Sofia Sees Hope, came soon after the Food and Drug Administration’s December approval of LUXTURNA™, which treats people with Leber congenital amaurosis (LCA) and a mutation of the RPE65 gene. Developed by Spark Therapeutics and decades in the making, LUXTURNA is the first genetic therapy for an inherited retinal disease and the first genetic therapy for ANY inherited disease in the United States.

“I’m optimistic about how the field has changed so dramatically, from a lack of knowledge of what causes retinal disease, to actually have a treatment. This has really been a rapidly changing and exciting time.”
Mansfield said he hopes continued successes will one day bring treatments and cures for all retinal diseases.

“We’re committed to soldiering on, to drive research, to get those solutions for everyone,” he said. “It’s a big job, but if people aren’t pushing for it, it doesn’t move.

“It takes time to get there, but it does happen. It takes lots of money and research and the role of our foundation is to make sure we can maintain that momentum.”

Dinner in the Dark 2018 Live Auction

Dinner in the Dark‘s live auction is like no other! With charming master auctioneer Mike O’Farrell to guide you, our committee has gathered amazing experiences, travel, and more! Get your bidding arm in shape!

FROM KIM’S KITCHEN TO YOURS!

What’s better than receiving a little piece of Southern California on your doorstep once a month for a whole year? Kim’s creations have won multiple awards and each month she will send you a package valued between $35 and $45 of seasonal jams and treats that will have you waiting by the mailbox. From homemade blueberry or cherry jams to Cherry Garcia cookies and more, this is a gift that keeps on giving, all year long!

Details: Kim will mail a package to you anywhere in the continental U.S. One package per month, for 12 months. Pick up the first month’s gift tonight, or let us know and we will mail it to you.

Value: $500

Donors: Kim Christiansen

MORE MYSTIC MARRIOTT: DINNER, OVERNIGHT STAY AND THE RED DOOR

EXPERIENCE FOR TWO

Come back another night to enjoy dinner at the award-winning Octagon restaurant along with an overnight stay and a little pampering for you both at The Red Door Salon & Spa.

Details: Reservations are required by calling 860-326-0320. Non-transferable and non-extend able. Not valid for cash. Dinner not to exceed $200 value. Gratuity not included. May be redeemed Sunday through Friday nights, based on availability. Certain restrictions and additional blackout dates may apply. Must present certificate upon arrival.

Value: $550

Donor: Mystic Marriott, Octagon Restaurant, Red Door Spa

CRUISIN’ ON MAMIE, OUR FAVORITE LOBSTER YACHT

Your private cruise on board Mamie begins from the dock at scenic Mystic Seaport Museum. From there, the boat cruises down river to Noank and Fishers Island Sound. Once in the Sound, why not have a picnic lunch anchored off a secluded beach followed by a swim? Or, you could tie up alongside a restaurant and get a traditional New England lobster lunch followed by shoreside explorations. You choose the adventure.

The cruise is available to a group of six or fewer guests, and you get the whole boat to yourself for four hours. BYOB food and drink is encouraged! The boat provides a cooler with ice and water to keep drinks and food cold. They also have all the eating and drinking utensils you may need including bottle openers and wine coolers. Mamie has a below-deck area that includes a head (bathroom).

Details: Charters available June 1, 2019, through Columbus Day 2019 and may be booked directly with Mystic Seaport Museum. Dates and times based on availability.

Value: $600

Donor: Mystic Seaport Museum

“TEARDROP” BY JEFFREY P’AN

Bring home a little bit of Mystic and a little bit of Murano with this beautiful original piece created by American glass artist Jeffrey P’an. This 11-inch tall purple teardrop was created in 2018. The teardrop was created using a combination of traditional glassblowing techniques combined with Jeffrey’s modern twist. Jeffrey P’an studied in Murano, Italy, and founded Prescient Studios in 1994 upon his return to Mystic. Today, Jeffrey’s work can be found in all corners of the world, and Studio Jeffrey P’an is a design house, artist’s workshop, and factory in the tradition of the factories of Murano.

In addition to Jeffrey’s one-of-a-kind sculptural work, all manner of glass-related work is performed—from jewelry making, to cut crystal, to glassware and repairs of historical pieces by an expanded team of apprentices and specialists. The winner may take home this gift tonight, or Studio Jeffrey P’an will ship this piece free of charge to your home.

Value: $650

Donor: Jeffrey P’an

DIRECT FROM MIKE’S WINE CELLAR

Look what we took from Mike’s wine collection! Valued at more than $1,000, this package includes:

2012 Caymus Vineyards 40th Anniversary Cabernet Sauvignon ($240)
2009 Louis Roederer “Cristal” Brut Champagne ($200)
2012 La Castellana Super Tuscan Blend ($125)
2013 Williams Selyem “Bucher Vineyard” Russian River Valley Pinot Noir ($100)
2009 VinRoc Napa Valley Atlas Peak Cabernet Sauvignon ($90)
2010 Clos de L’Oratoire Saint – Emillion Grand Cru Classe ($75)
2003 Chateau Raymond – La Fon Sauternes ($65)
2012 Jordan Alexander Valley Cabernet Sauvignon ($55)
Moet & Chandon Imperial Brut Champagne ($42)
2004 Faustino I Gran Reserva Rioja ($40)
2007 La Rioja Alta Vina Ardanza Reserva Rioja ($30)
2011 Portia Ribera del duero Crianza Tempranillo ($28)
2013 Bourgone Passetoutgrain Cuvee Desite Burgundy ($18)

Details: Dirty old wheelbarrow and flashing police light not included.

Value: $1,100

Donor: Michael Mondello – Former SSH Director

SIMPLY MAJESTIC PRESENTS

This exquisite three-piece set from Simply Majestic’s Classic Designer series includes a sterling silver double circle pendant, matching hoop earrings and a cuff bracelet. The pieces are a woven style with simulated diamonds.

Details: This gift is donated exclusively to Sofia Sees Hope and no cash, credit or exchanges are permitted in the store.

Value: $1,100

Donor: Simply Majestic

MIXOLOGY WITH A MASTER

Party for six people

A unique educational opportunity to warm you this winter! Two-time James Beard Award winner and Master Mixologist Dale DeGroff, also known as King Cocktail, will come to your home and teach a party of six how to mix the perfect punch, eggnog, and a winter cocktail. Includes one of Dale’s books on mixology and a bottle of his aromatic bitters made in France. Dale is a Lifetime Achievement Award recipient from Food & Beverage magazine and the Founding President of the Museum of the American Cocktail. He is credited with re-inventing the bartending profession, setting off a cocktail revival that continues to flourish.

Details: Winner is responsible for purchasing liquor and providing food for guests. Mixology party dates are subject to availability between January 1, 2019, and December 1, 2019, and must be mutually agreed upon and confirmed at least six weeks in advance. Dale will travel just about anywhere in the world, but the winner is responsible for Dale’s travel and lodging expense beyond a 50-mile radius of the Mystic Marriott or Nassau, Long Island.

Value: $3000

Donor: Dale DeGroff, King of Cocktail

ESCAPE TO ANTIGUA

Seven nights for up to four people

Enjoy this getaway to Antigua in the British Virgin Islands, where crystal waters lap more than 360 white sand beaches and ocean breezes carry the scent of jasmine and hibiscus. This getaway is for up to four people in a beautifully decorated two-level waterfront villetta in Jolly Harbor. It’s an easy stroll from your home for the week to all the exceptional restaurants, nightlife, beaches, weekly sailing regattas and access to land and water sports.

The villetta is newly renovated and features two bedrooms, 1.5 baths, open floor plan on the main level with a fully equipped kitchen, and a large terra cotta patio overlooking the water and boat docks. Perfect for outdoor dining and watching the sunset.

Details: There is no expiration date on this gift and the winner may postpone travel until any year in the future. No blackout dates. Dates are based on availability.

Value: $2,400

Minimum bid: $2,000

PARK CITY, UTAH IN SNOW OR SUN (OR BOTH!)

Seven nights for up to seven guests

Park City lies east of Salt Lake City in Utah. Framed by the craggy Wasatch Range, it’s bordered by the Deer Valley Resort and the huge Park City Mountain Resort, both renowned for incredible skiing.

Stay in Park City Parks Edge, a new luxury three-bedroom, three-bath condo that sleeps up to seven guests! This 1,671-square-foot property features a top-floor large master bedroom suite with a king bed, a large private bathroom with stone shower, soaking tub, and dual vanities. It offers great mountain views and private decks overlooking the mountains and surrounding open space. Across the road is the community clubhouse with pool table, full kitchen for entertaining, a large outdoor hot tub, a community pool, a well-equipped workout room. It’s an easy drive to ski, hike, mountain bike, or stroll the historic downtown for shopping and dining!

Details: This is for a seven-day rental from Saturday to Saturday. The owner is flexible if other days are required. Blackout dates include December 24 to January 1. Expires June 1, 2020.

Value: $2,000 to $3,000+ based on season

Minimum bid: $2,000

CARIBBEAN VILLA IN MONTSERRAT

Seven nights for six guests

Montserrat is a small, tranquil island described as the “best-kept secret of the Caribbean.” Unwind in a villa with three king-sized bedrooms, a private outdoor pool, outdoor terrace with dining area overlooking the ocean. Located in Salem, Montserrat, the area is known for its black sand beaches, coral reefs, cliffs, and shoreline caves to explore. For the more adventurous, visit the Montserrat Volcano Observatory, schedule a guide (we recommend “Sunny”) to visit the restricted side of the island, or hike up into the mountains. For lunch, ask John for the best roti on the island—tell him Laura sent you. In town, you can enjoy local bars and restaurants, snorkeling, scuba diving, sailing, motor boats, and shopping.

Details: This package includes a seven-night, eight-day stay. Dates are subject to availability. Blackout dates include Thanksgiving, Christmas, and New Year holiday weeks. Travel must be booked within 12 months and traveled within 24 months.

Value: $4,300

Minimum bid: $3,500

UNDER THE TUSCAN SUN

Seven nights for four guests

Situated at the top of two ancient Tuscan hills are the Etruscan towns of Pitigliano and Manciano, both with breathtaking views in all directions. This package includes seven nights of accommodations for four people in Manciano or Pitigliano, Italy, located 1.5 hours north of Rome on the southern edge of Tuscany. You may choose from among more than six different villas. Wondering how much fun this is or need pointers on the area? Ask any of the four couples who won this before and gave rave reviews!

Details: There is no expiration date on this gift and the winner may postpone travel until any year in the future. No blackout dates. Dates are based on availability.

Value: $4,550

Minimum bid: $2,500

‘As A Doctor, You Will Never Forget’

Transforming laboratory research into real-life therapy for patients is a rare occurrence.

But when it does happen, it’s big. Huge, in fact.

Ask Dr. Audina M. Berrocal, the pediatric retinal surgeon who performed ground-breaking retinal surgery in March on 9-year-old Creed Pettit. Creed lived with severe vision loss caused by a rare inherited retinal disease (IRD) called Leber congenital amaurosis (LCA)* manifested by a mutation in his RPE65 gene. At the time of his treatment, he was the nation’s youngest patient to receive it.

Dr. Berrocal’s surgery at Miami’s Bascom Palmer Eye Institute on the third-grader marked one of those extraordinary times when research goes from clinical to surgical – from bench to bedside.

“It’s one of those honestly amazing moments in medicine,” she said. “Things that you think you are never going to see and here I am, doing it. As a doctor you will never forget.”

Dr. Berrocal, Dr. Byron Lam (who diagnosed Creed at age 2½ with LCA), and a surgical team, removed the vitreous, a gel-like substance attached to the retina’s surface – though Creed’s vitreous was thinner than normal – before administering the medication – LUXTURNA™ – a genetically engineered virus that supplanted Creed’s mutated RPE65 gene with healthy versions of the gene.

“The challenge is to lift the retina with the medication,” she said. “Detaching the retina, especially of a child, is pretty hard to do. We are looking through microscopes and special equipment that makes seeing the retinal layers easier, but it’s still challenging.”

Working with two syringes filled with the medication that is viable for only four hours, Dr. Berrocal said she could not find the right subretinal space to inject the treatment with the first syringe. She then successfully injected LUXTURNA with the second syringe.

“With the first case, everything is new,” she said of the surgery, which took about an hour. “The second eye, everything went smoother, quicker and faster.”

‘Science that revolutionizes medicine’

“It’s extraordinary,” she said. “It makes you feel you are on the brink of a new area of science that is going to revolutionize medicine and eradicate disease. This truly is the brink of an era of gene manipulation and gene therapy.

“To be living this as a physician is really, really unique and special.”

Before the surgery, Dr. Berrocal trained with people from Spark Therapeutics, LUXTURNA’s developer, to learn about the drug’s pharmacology and to train in the knowledge of the surgical process. This genetic treatment came to fruition after decades of research and millions of dollars, followed by approval by the Food and Drug Administration in December.

“The viral vector provides the correct gene that you need,” she said of the medication’s delivery system. “The concept can be used for any gene and I think this is truly the beginning of a revolution of genetic manipulation.”

Soon after the surgery, Creed enjoyed improved vision.

“We never expected it to change so quickly. I don’t think anyone was expecting it.”

“No one believed it,” she said when Creed’s mother, Sarah, reported two days after the surgery that her son’s vision dramatically improved.

No one except Dr. Berrocal.

“The thing is, people do not always believe mothers, but as a mom myself, I will tell you that no one knows a child better than mom. If Creed’s mom is saying that Creed never walked around with such little light before, then it’s true.”

A family tradition

Given her background, Dr. Berrocal being at this point in her career seems a little unsurprising. Her father, Dr. Jose Berrocal, trained with Dr. Charles Schepens, a Belgian ophthalmologist known as the father of modern retina surgery.

Her father became Bascom Palmer’s first trained retina specialist and the first such specialist in Puerto Rico. Dr. Berrocal’s older sister, Dr. Maria H. Berrocal, became a retina specialist and practiced with their father. Both women turned to medical school after graduating with degrees in political science and realizing politics wasn’t for them.

Dr. Berrocal, now 51, has two daughters and one son with her physician husband. She grew up helping her dad in the office, as ophthalmology was part of the family. She is now medical director of Retinopathy of Prematurity Services at Bascom Palmer and professor of Clinical Ophthalmology at the University of Miami.

Asked whether her sister was jealous of her doing breakthrough surgery, Dr. Berrocal laughed and said, “She’s very proud of me.”

Dr. Berrocal’s father always told her she’d end up doing something with kids, and she sealed the deal working under a mentor dealing with pediatrics and retinas in her 2002 fellowship at Bascom Palmer in Vitreoretinal Diseases and Surgery.

“I truly like kids more than I like adults. They’re honest, sincere, concrete. You can never lie to them; if you do, you lose their trust forever.”

Empowering children

Dr. Berrocal respects Creed, listened to him and talked to him as an adult. She said he wasn’t interacting during their first meeting in January. Over time, she won him over by caring about what he wanted and needed, especially the little things. Creed didn’t like having the ID band on his wrist, so she took off the band and he felt better.

“He’s much more comfortable with me now,” she said. “It makes it really special.”

“They have to feel that they’re part of the process. It’s their body and it’s their eyes. I think empowering kids to be part of the process, taking in their feelings and their emotions, directing the conversation to them – that’s essential to make it work.”

Dr. Berrocal, as with most retinal specialists, is much more used to seeing children lose their vision and become blind.

“One of the most important things for me in this process has been watching a kid regain vision. This was a kid who couldn’t do things. He’s seeing the world in a different way. That is so powerful and so overwhelming. We cannot forget the importance of getting him ready for something so overwhelming.

“Learning to see again is hard emotionally. We have to somehow have these kids talk about it, how different their lives will be. How to guide them through it…We have never reversed the road to blindness before.”

Dr. Berrocal sees Creed for check-ups and more, confiding: “I can’t separate.”

Looks like that won’t be a problem for the surgeon – when she retires she knows Creed will be at the party.

In LCA: Naming Versus Numbering

Gene mutations in the rare inherited retinal disease of Leber congenital amaurosis (LCA) commonly are referred to by their gene name, such as GUCY2D, RPE65 and CEP290. But sometimes, as LCA patients and families have discovered, they are referenced numerically as LCA1, LCA2 and LCA10, respectively.

Why the difference? It’s confusing.

LCA1 through LCA18 exist in a continually updated online catalog of human genes and genetic disorders called Online Mendelian Inheritance in Man. Mendelian inheritance is based on the ideas of Gregor Johann Mendel, a 19th-century Moravian monk known as the father of modern genetics.

One source of confusion for LCA families is that there are 27 genes that can cause LCA, but only LCA1 through LCA18 are cataloged. For most genes, OMIM includes only selected mutations based on criteria such as the first mutation discovered, high-population frequency, distinctive phenotype and more. LCA families with genes not included in the database are left to wonder why they’ve been left out.

OMIM focuses on the molecular relationship between genetic variation and phenotypic expression and is considered a phenotypic companion to the Human Genome Project, which funds the database. The HGP international research effort from 1990 to 2003 culminated in a blueprint for building a person by completing an entire sequence of the human genome.

OMIM is a continuation of Dr. Victor A. McKusick’s Mendelian Inheritance in Man published through 1998. Created in 1985 through a collaboration between the National Library of Medicine and the William H. Welch Medical Library at Johns Hopkins University School of Medicine, OMIM went online in 1987.

For example, OMIM refers to GUCY2D as LCA1, #204000 (phenotype MIM number), located at 17p13.1 with a gene/locus MIM number of 600179.

Translated:

“A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-1 (LCA1) is caused by a homozygous mutation in the gene encoding retinal guanylate cyclase (GUCY2D: 600179) on chromosome 17p13.”

There’s more, but that can be left to physicians, genetics’ professionals, researchers and students studying advanced science and medicine.

“For a patient with LCA or their family, what’s important is not the LCA## symbol, but, rather, a) the underlying affected gene; b) whether inheritance is dominant or recessive (dominant is rare); and c) the specific mutation or mutations,” according to Stephen P. Daiger, PhD, Professor in Environmental and Genetic Sciences at the University of Texas Health Science Center and director of the Laboratory for Molecular Diagnosis of Inherited Eye Diseases.

“This is the information which decides, for example, whether someone is eligible for a clinical trail focused on a specific gene, e.g., LUXTURNA™ for RPE65,” he said. “It is very important to know and remember this information.”

Tell Us Your Story: ‘Do Not Limit Yourself’

I am 22 years old and I have LCA.

My name is Angélica Bretón Morán, I am from Mexico, I am 22 years old and I have Leber congenital amaurosis (LCA). Two years ago I learned that the gene that affects me is the RPGRIP1.

I’ve been reading many sites on the Internet, and I have realized that there are many comments from parents concerned about the development of their children, however there are almost no comments from parents with older children or people with LCA who talk about their development.

My intention is to tell you a little about my story to bring you peace.

LCA diagnosis: Many wrong turns

Angélica holding red roses and standing next to her parents and brother

When I was 2 months old, my mom realized that I did not follow people or toys with my eyes, and that when they did not speak, I cried as if I was alone and my eyes were standing down.

My mother is licensed in special education and specialized in hearing and language; she has many diplomas in different disabilities, including visual disability, so she realized that something was not completely normal.

The doctor told my parents that my eyes had to mature, but the months passed and nothing changed. My mom was certain that my characteristics were those of a blind person.

Finally, the doctors diagnosed that I was blind and there was a rain of bad diagnoses, syndromes that would terribly affect me, or that I would die a premature death, or that I would be like furniture, without the ability to do anything. They also said that maybe I would lose some other sense, that I could never talk, walk, eat ,among many other things Of course all this broke my parents’ hearts.

Other doctors recommended surgery but my mom never agreed and my dad supported her, he trusted in her because my dad did not have the experience with people with disabilities like my mom.

It was a painful road for my parents until a doctor told them “If they force me to give a diagnosis, I would say to you that it is LCA.” I was 2 years old.

My dad searched for information about this new diagnosis on the Internet, and what he found was not nice things, as I see that happens today. In one of the Internet searches, my parents found a writing made by a 22-year-old Italian young lady who was a musician; this for them was something hopeful.

Live with LCA: ‘I want to be a pianist’

From that moment we were in the group of research families, and for many years that was the diagnosis even though there was nothing that would formally confirm it. However, my parents did not lose details about my development; they were still worried because there was not something completely defined, since the disease was little known.

While my mom stimulated my touch with toys with different textures, placing hands in containers with different seeds, she strengthened my hands and enrolled me in mud classes. I was very afraid of the people, so she enrolled me in ballet classes where I would meet more girls and teachers. I was very little and I liked the music and the stage.

Then I went to kindergarten. It was not easy to find a school where they would admit me, but my parents never agreed that I was in a school for people with disabilities. As I had already been in the Ballet, it was easier for me to adapt to the classroom.

My parents never treated me differently, when I told my mom that when I grew up I wanted to be a pianist and opera singer, she told me that I could reach where I wanted. I liked to hear Charlotte Church and I admired Andrea Bocelli, because he was an example for me.

I have always been shy, I work hard to be sociable. This has been good, even though it has not been easy, but the reality is that we live in this world that will not be especially easy for us. This is achieved gradually and with personal life experiences, but I believe that above all with great patience and understanding of our parents and relatives, then we personally will learn to have it.

To give an example, my mother let my friends go to my house, and she let me go to their homes too. My parents did not make me see that my case was something special, because I could play with dolls, the kitchen, to be a doctor etc., like all the girls; only that when there were obvious things like playing jump on the stairs, the adults had to tell us that this was dangerous, because this is dangerous for any child, do not you think?

LCA, love and discipline

When I behaved differently from other children, my parents told me that this was not a good behavior. They explained to me how I should behave, without showing myself. When I waved my hands my mother held them and told me not to do it, she did it kindly but firmly and little by little I stopped doing it.

What made my parents angry was that I pressed my eyes with my fingers, because this was harmful to my eyes, every time they saw me doing it, they rebuked me more strongly; but now I thank them, because my eyes have no harm and in the future if the cure for my gene is found, there will be no injury that prevents me from receiving the treatment.

My parents educated me with a lot of love, but above all with discipline, an orderly and coherent discipline. I had to keep my toys like all children, learn to eat correctly like everyone else, not put my hands in food and just touch it with a finger that my mom called “guide finger”, this as a support because I cannot see the food.

I am weak visually, when I was a girl I could see better than now. Now I see lights and shadows but I cannot distinguish differences between colors as I used to, this has been so progressive that I did not realize until recently.

My disability has never been a secret, but neither has it been something for which I have to be different from others. It is true that you have to adapt some things, this is logical; however you have to look for how to achieve the objectives.

Going back to my life story, I have always studied in regular school; all my life music has been present. I graduated from music training at the Autonomous University of Nuevo Leon (UANL) while studying elementary school. I finished high school and got the second place for qualifications. I entered the technical career in music and finished it with honors while I studied online high school, all this in the UANL. I am currently studying a degree in music with an emphasis in piano at the same university and I have been studying professional singing for five years with a private teacher to become an opera singer.

Brother and sister

I think it’s important to mention that I’m not an only child, I’m the oldest of two. My parents, like many of you, were afraid that the second child would have something worse than mine, but they have always had great faith in God and my brother was born. He does not have any disability, but he was asthmatic since he was a child and my parents have faced their situation in the same way they have faced mine … they never treated him differently, nor did they make him see that he had disadvantages. But to achieve something you had to look for how to do it. He is a high-performance swimmer, asthma attacks are becoming less frequent, and he is currently a healthy boy.

All this I tell you so that you know how important it is not to limit yourself. If you limit yourself as parents, you will limit us as children. My brother has been a great support for me in many situations, he has taught me to be the older sister. Our illnesses and the education of my parents, they taught us that neither he nor I have an obligation to take care of each other, we simply do it because we are brother and sister and we love each other

I played with my brother, we made mischief, we laughed late at night until my parents scolded us to sleep, as any pair of siblings can. My parents have never marked differences between us, everyone is accepted with their differences, we all have, but I am not more important than him, nor is he more important than me.

All this we have worked for 23 years as a family, we have been wrong many times, some other times we have felt that our effort has been in vain. We have stumbled like any family, we have asked for help when we consider that it is necessary. We have also tried to help when we think it is appropriate. But above all things, the strength of my parents and my family has been their faith in God, which they have transmitted to me and my brother and this faith has been my reason to continue in difficult times.

Speaking about people with LCA, they may have other disabilities, I have witnessed them myself, or they may not have them as is my case. However, I can tell you that when you treat a person different from the others, that person will behave differently regardless of whether they have a disability or not.

Live with LCA: Find your way

You have to be aware of the limitations, but you also have to find a way around the obstacles, or pass through them, or use them as a catapult, or see them as a feature that makes us unique and special as people, as we all are.

I hope my words help many families, since that is my intention. I invite more adults with LCA to tell their stories and how they have faced life! I think we would give a much more encouraging approach when new parents enter the Internet looking for information about the diagnosis of their children, and why not, for those who are newly diagnosed patients and research the internet on their own.

I have known fathers and mothers with LCA, young people, babies, children, even a child who was cured with genetic therapy because he has RPE65. We met him when he was blind and the second time we saw him, he saw and guided the other children who were still blind. It was amazing! We were all very excited and we could not stop the tears.

Finally I want you to know that I am in the best position to answer your questions in this post from my personal perspective. As I mentioned before, my only intention is to help because I am greatly moved to see your anguish and I feel that it is my duty to be now the 22-year-old girl who brings a hopeful message to those who enter the internet looking for information about LCA.

I would like to know, is there anyone else that has the RPGRIP1 GEN? I do not know anyone else!

God be with each one of you, blessings!