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

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.”

On Rare Disease Day, Shining A Light

Lisa Kurec never heard of the National Organization for Rare Disorders (NORD) until Wednesday, but after many years of finding no answers for her son’s rare disease, she decided to attend NORD’s Rare Disease Day event in Hartford at the Legislative Office Building. She joined patients, families, caregivers, medical professionals, industry representatives and legislators, all gathered on Rare Disease Day to help shine a light on these conditions.

Over the years Kurec, of Middletown, took her son to 25 doctors, all unable to determine why he suffered from painful ulcers throughout his body. Some symptoms were even attributed to age-appropriate conditions, such as acne.

She finally took him to a dentist, who sent him to the emergency room, where he was referred to an infectious disease doctor. By 2014, her now 26-year-old son was diagnosed with Behcet’s disease (pronounced beh-CHETS), a rare disorder that causes blood vessel inflammation throughout the body. Signs and symptoms seem unrelated at first, and include mouth sores, eye inflammation, skin rashes and lesions, and genital sores.

At Wednesday’s event, hosted by NORD, the official sponsor of Rare Disease Day in the United States, and NORD’s Connecticut Rare Action Network, Kurec immediately learned about NORD’s Patient Assistance programs and much more to help her find support for her son.

NORD President Peter Saltonstall told the gathering of about 120 people that there are about 7,000 rare diseases, with fewer than 500 having FDA-approved therapies; that leaves 95 percent of patients with no available treatment.

“There’s still a lot of work to be done,” he said, adding, “NORD is the voice for the rare disease patient.” Thirty million Americans have rare diseases, including 300,000 in Connecticut.

He noted that NORD receives more than a million hits monthly on its website from people looking for help and said Rare Disease Day is the one day people come together globally to close the gap between the number of rare diseases and the number of available treatments.

NORD has more than 260 member organizations, including Hope in Focus (formally Sofia Sees Hope), which unite to promote patient and caregiver advocacy, and research for treatment and cures for those with rare diseases.

Speakers at Wednesday’s event promoted Connecticut as a good place for investment in research and development in creating new treatments, and for job opportunities and economic growth. They reached out to legislators, asking them to keep in mind tax incentives and other ways of encouraging the business of research in the state.

Legislators attending included Republican State Sen. Len Fasano, who said, “In this building, people care. Republicans and Democrats care. This is not a Republican or Democrat issue.”

He introduced Hunter Pageau, an articulate 7th grader who is one of 80 people in the world with Spinal Muscular Atrophy with Respiratory Distress or SMARD.

Hunter said he founded a new group called Youth Empowerment Society or YES, and he told the gathering, “While a disease may be rare, hope never should be.”

Democratic State Rep. Joe Aresimowicz, Speaker of the House, said rare disease advocacy and research needs “money and legislation to fully understand what is going on.”

“We genuinely care,” he said. “We want to be helpful.”

The Speaker introduced Greta Stifel, who has a rare cancer called neuroendocrine tumor carcinoid cancer (NET).

She told the group, “We have a set of struggles that other patients don’t have.”

She directed people to #RareLivesMatter and said, “We do matter. We need more funding, more visibility.”

Dr. Mridu Gulati, a pulmonary disorder specialist at Yale School of Medicine and chair of the Connecticut General Assembly’s Task Force to Study Rare Diseases , thanked the many, many legislators, medical experts and rare disease advocates that she and task force members have met with since February 2016.

She said the group plans to hold more meetings examining rare disease research, diagnoses, treatment and education, and the task force will make recommendations for creating a permanent group of experts to advise Connecticut’s Department of Public Health on rare diseases.

‘We know how important it is to know your gene. We’ve lived it.’

It took more than seven years to get a genetic diagnosis for our daughter. During that time, doctors were pretty sure she had LCA, although we also heard that maybe she had cone-rod dystrophy or perhaps Stargardt’s Syndrome. We argued with insurance over genetic testing, paid out-of-pocket, took time off work and school for trips out of state and sent blood work all over. Still, no one could give us a genetic diagnosis. Some labs never even bothered to return phone calls to tell us if they had any results.

And then things changed. More genes had been identified and there were new and better ways of genetically diagnosing IRDs. Finally, in 2013, I we received a confirmed diagnosis for Sofia.

Flash forward another five years to today and there are even more changes. While many aspects of obtaining a genetic diagnosis are still challenging, thanks to continued research, increased awareness, and accessible testing programs, it’s no longer a seven-year ordeal. Patients can get tested today without incurring travel expense and are much more likely to receive a confirmed genetic diagnosis.

Thanks to donations to our organization, we have been able to support accessible genetic testing for families. Thanks to our donors and supporters, we are also able to provide outreach and education to families, driving awareness and access for genetic testing and encouraging participation in natural history studies and patient registries.

Our awareness campaign this year is Know Your Gene: Get Tested, Get Connected. Knowledge is power and we are helping more families get tested so they can receive their genetic diagnosis and then connect in ways that will accelerate research for treatments and cures for IRDs. We want to stress the importance of connecting to a patient registry or a genetic counselor. We want to help families and individuals find each other for support and sharing of information. And we are driving those programs and communications that will continue to advance cures for blindness.

We know how important it is to know your gene. We’ve lived it.

CT Rare Disease Day: Patients Must Be Advocates

On Rare Disease Day – Wednesday, February 28 – doctors, researchers, advocates, patients, caregivers, industry representatives and legislators will come together in Connecticut and around the globe to focus on the critical role patients play in understanding rare diseases and in developing innovative treatments and cures.

Research is the 2018 theme for Rare Disease Day, and this year’s slogan is “Patients are not only subjects but proactive actors in research.” Nearly 7,000 diseases are considered rare in the United States and about 300,000 people in Connecticut have a rare disease.

Hosted by the National Organization for Rare Disorders (NORD) and the NORD’s Connecticut Rare Action Network, Rare Disease Day will be celebrated on the last day of February from 8:30 to 10:30 a.m. in the 2nd Floor Atrium of the Legislative Office Building, 300 Capitol Ave., Hartford.

The event, held nationally and in more than 85 countries, serves as an opportunity to hear from the many voices of those dealing with rare diseases and the daily challenges patients and their families face in Connecticut.

NORD President Pete Saltonstall and a bi-partisan team of Connecticut General Assembly (CGA) members will open the event. The governor is expected to honor the day with an official proclamation.

Dr. Mridu Gulati, a pulmonary disorder specialist at Yale School of Medicine and chair of the CGA’s Task Force to Study Rare Diseases, will report on the group’s findings. The task force, created in 2015 under Public Act 15-242, comprises legislators, medical experts and rare disease advocates. It is charged with examining rare disease research, diagnoses, treatment and education. The group also makes recommendations for creating a permanent group of experts to advise Connecticut’s Department of Public Health on rare diseases.

Also, within the legislative session, Jean Kelley, whose son has X-linked Adrenoleukodystrophy, will give an update on ALD and newborn screening.

Speaking on behalf of research will be: Dr. Emily Germain-Lee of Connecticut Children’s Medical Center and University of Connecticut, Albright Syndrome; Stormy Chamberlain, Ph.D., of University of Connecticut, Angelman’s Syndrome and Prader Willi; and Dr. Thomas Carpenter of Yale, X-linked Hypophosphatemia.

Event organizer Lesley Bennett said discussion is open to other rare diseases, such as Leber congenital amaurosis and other rare inherited retinal diseases. Advocates could add their concerns in the patient-issues portion of the event, which includes legislators and rare disease patients.

A five-member business panel will help inform the CGA about patient organizations in our state, patient participation in clinical trials and helping to fund research to develop therapies for rare disorders.

Bennett is part of NORD’s Rare Action Network and she is Connecticut’s Volunteer State Ambassador. For more information, please email her at Lesley.bennett@rareaction.org

#KnowYourGene: AGTC Working On Multiple IRD Treatments

Applied Genetic Technologies Corporation (AGTC), a clinical stage biotech company that focuses on rare inherited retinal diseases (IRDs), develops therapies that replace “broken” genes with normal functional genes – treatments that allow a patient’s own body to produce proteins to treat their disease.

As a headline touts from an AGTC website story: “Imagine That the Power to Beat Genetic Disease Lies Within Us.”

The work that companies such as AGTC undertake serves to underscore the importance of genetic testing in the treatment of rare inherited retinal diseases. This month, Sofia Sees Hope has launched a #KnowYourGene campaign in advance of International Rare Disease Day on Feb. 28.

A clinical diagnosis of a named disease is not enough to help find cures and treatments for these and other rare IRDs.

For meaningful and productive research to advance, patients need to take the most important step to help further research into correcting the mutated genes affecting their vision:

Get a definitive genetic diagnosis of their eye condition with genetic testing. Talk to your doctor about ordering a test through one of several laboratories or contact Foundation Fighting Blindness (FFB) about free testing.

Genetic testing is key

AGTC (headquartered in Alachua, Fla., with offices in Cambridge, Mass.) strives to get the word out through their patient advocacy work headed by Jill Dolgin, Pharm.D. The company partners with Hope in Focus (formally Sofia Sees Hope (SSH)), which helps fund FFB’s free genetic testing and genetic counseling program.

A priority for AGTC is to find and educate people with rare inherited retinal diseases and encourage them to get genetic testing. Patients with the same gene mutations studied by AGTC could potentially participate in one of their clinical trials.

The company also is collaborating with advocacy groups to inform individuals with the conditions for which AGTC is conducting clinical research, including:

Achroma Corp. , an organization providing support and education to those affected individuals and families with Achromatopsia
MomsForSight, which provides information to affected individuals and families with X-Linked Retinoschisis
Foundation Fighting Blindness of US and Canada

AGTC also reaches people with rare inherited retinal diseases through online and print articles, social media, medical publications, national vision conferences and their website.

What’s in the pipeline

The conditions for which treatments are under Phase 1 and Phase 2 clinical investigation include:

X-linked retinoschisis (XLRS) is the leading cause of macular degeneration in males. An inherited form of retinal degeneration affecting young males, patients affected by XLRS present with poor vision by school age. Visual acuity usually worsens during the teenage years and then can lead to serious complications such as vitreous hemorrhage or retinal detachment during adulthood.

Mutations in the RS1 gene cause early onset retinal disease. In animal models of XLRS, treatment with an AGTC gene-therapy candidate leads to long-term improvement in retinal function and preventing retinal cell degeneration. Based on preclinical proof-of-concept data, AGTC is conducting a clinical study to evaluate the safety and efficacy of an investigational gene therapy in patients with XLRS.

Achromatopsia causes visual acuity loss, extreme light sensitivity resulting in daytime blindness and reduced or complete loss of color distinction. About 75 percent of cases are associated with mutations in the CNGB3 and CNGA3 genes, also known as ACHM B3 and ACHM A3 genes, respectively. The company is currently evaluating a gene therapy in a Phase 1/ 2 trial for individuals diagnosed with Achromatopsia caused by mutations in either the CNGB3 gene or CNGA3 gene.

To better understand the condition, researchers from the University of Pennsylvania School of Veterinary Medicine and the Michigan State University College of Veterinary Medicine filmed a dog with ACHM B3 unsuccessfully trying to navigate a maze. Four months later, after receiving gene therapy treatment developed by AGTC, the pooch easily finds its way through the maze.

Check out the video showing how sheep affected by achromatopsia due to ACHM A3 mutations also were able to successfully navigate a maze following gene therapy administration.

X-Linked Retinitis Pigmentosa (XLRP) is an inherited condition that causes progressive vision loss in boys and young men. Symptoms begin with night blindness in young boys followed by progressive constriction of the field of vision. Affected men become legally blind at about 45 years of age, on average. AGTC is currently recruiting for a Natural History Study, intended to gather information about the condition over time for a better understanding of the disease’s progression and its effect on the individual’s quality of life, and for a Phase 1/ 2 clinical trial.

AGTC is committed to advancing clinical programs to deliver novel gene-based therapies for rare conditions without any available treatment options. The company would like to express its deep appreciation to patients who have participated in their clinical trials and is grateful to its partners for their dedication and continued support.

First, Diagnosis. Then, Genetic Testing. It’s Important.

My Retina Tracker^® is a free and secure online registry launched by the Foundation Fighting Blindness that helps connect families dealing with rare inherited retinal diseases to feel less alone, and to find help.

Parents feel shock and isolation when they are told their babies have no vision or limited vision caused by a rare inherited retinal disease. They do adapt and pursue resources, but that feeling of isolation often persists because of the disease’s rarity. It’s unlikely you will bump into someone in the grocery store whose child also has retinitis pigmentosa.

My Retina Tracker® is a free and secure online registry launched by the Foundation Fighting Blindness (FFB) that helps alleviate those feelings of isolation. An individual goes from being one with an inherited retinal disease to becoming part of a growing community of people (currently 6,500) sharing similar concerns and hopes.

The goal of My Retina Tracker^® is to drive the research toward prevention, treatments and cures for people living with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome and the whole spectrum of inherited retinal degenerative diseases, including Leber congenital amaurosis (LCA).

The global registry includes rare inherited retinal disease patient disease information from Europe, North, South and Central America, Asia and the Pacific.

‘Stand up’ and be included

Dr. Brian Mansfield, FFB’s deputy research officer who managed the registry’s launch three years ago, said 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.”

“Whether you’re in the middle of New York City or in a small town in West Virginia,” Dr. Mansfield said, “you’re equal to everyone else in that registry. It removes isolation. You’re literally standing up.”

My Retina Tracker^® notifies registrants of clinical trials and gives researchers access to their disease data – but not their personal information – to advance research and therapy development associated with IRDs.

To optimize the power of My Retina Tracker^®, registrants should seek a genetic diagnosis. The registry facilitates that by making registrants eligible for free genetic testing. In today’s world, it is helpful to be genetically diagnosed if you want to participate in research.

Details of My Retina Tracker^® can come none too soon for some. Dr. Mansfield said after LUXTURNA® recently came to market as the first genetic therapy for LCA patients with an RPE65 gene mutation, he came across information about a person who set up a crowd-funding site asking for $5,000 to travel to Texas because he needed a genetic test.

“You don’t have to raise $5,000 to get a genetic test,” Dr. Mansfield said. “You don’t have to travel to Texas to get a genetic test.”

Helping families get tested

Hope in Focus (formally Sofia Sees Hope) well understands the importance of genetic testing for those with rare inherited retinal disease. Part of its mission is to educate individuals and families about the importance of becoming part of patient registries and getting genetically tested. SSH also makes genetic testing accessible to those who cannot afford it.

“Last year, we supported FFB’s (genetic testing) program as a small test grant,” said SSH founder Laura Manfre. “This year, with the success of the test and thanks to the tremendous support of our donors, we are happy that we were able to more than quadruple our contribution, enabling many more individuals to receive free testing and genetic counseling.”

Dr. Mansfield thanked Sofia Sees Hope for for its $65,000 donation to FFB, earmarked for genetic testing.

“The help was truly appreciated,” he said. “I’m very proud of the relationship we have with Sofia Sees Hope.”

How My Retina Tracker^® works

Go to myretinatracker.org, click on Register Now and follow the prompts to establish a username and password and to answer questions to build your personalized retinal health profile. You are then guided through a series of questionnaires developed by retinal clinicians, geneticists, genetic counselors and rare inherited retinal disease researchers.

If you have any questions, call the My Retina Tracker^® coordinator at 800-683-5555 or email to Coordinator@MyRetinaTracker.org.

Once you’ve registered, send a request to Coordinator@MyRetinaTracker.org asking to be genetically tested and you’ll receive information and guidance on how to order the test.

The registry becomes your personal retinal health record, updated by you and your doctors. Your history and testing results create a critical resource in tracking the progress of your disease and becoming part of a comprehensive database.

The registry employs state-of-the-art database technology to protect privacy and adheres to the highest standards of confidentiality and ethics, following policy and protocol set by the National Institutes of Health’s Institutional Review Board.

Your disease information is accessible only to you, FFB registry staff, and researchers who meet a rigorous scientific review application process to use the data for studies and to reach individuals to participate in clinical trials, natural history studies or focus groups. Your personal information is never shared with researchers.

Large commercial biotech companies use this pool of data to find people for clinical trials, a common research challenge. Rather than calling clinicians one by one, the data is accessible in one place and often updated.

Clinical trials are out there

The data helps inform researchers about the therapies patients want, the risks they are willing to take for different levels of vision improvement and when and how their vision loss progresses.

Personal updates, such as when someone had to stop driving because of increased vision loss, help track the progress of the patient’s disease.

“Then you have a clinical longitudinal timeline as to how vision is changing for the patient,” Dr. Mansfield said.

Before My Retina Tracker^®, the foundation used a paper list of about 12,000 names accumulated over FFB’s 40 years. The names transferred to the new registry to total about 17,500, but many are outdated.

There are about 6,500 people actively engaging in the online portal profile, with about 150 new registrations a month.

Dr. Mansfield wants to reach a minimum goal of 20,000 registrants in the next four years, although 50,000 would be preferable, as it would make for an extremely effective base of data for phase 2 and phase 3 studies that create demand for more trial enrollees.

He also made the distinction that private labs hold onto their data tightly, whereas FFB’s goal is the opposite.

“We want to share it, we want to move the whole field forward,” Dr. Mansfield said. “After all, our goal is to ensure the treatment and cures of all retinal diseases.”