October 2017 - Hope in Focus

Successful Strategies for Patient Organizations

Your voice counts! Lawmakers on the state level need to hear from people living with Leber congenital amaurosis (LCA) and other rare diseases to help secure funding for research, patients’ needs, costs associated with living with a rare disease and accessibility on all fronts.

Your voices and those of organizations representing the rare disease community need to be heard by your state senators and representatives now to prevent elimination or reduction in funding, especially in these times of tight budgets.

This advice came during a conference workshop – Successful Strategies for Patient Organizations – at the recent 2017 Rare Disease & Orphan Products Breakthrough Summit presented by the National Organization for Rare Disorders (NORD).

Rare diseases number more than 7,000. You can make a difference because of the power in numbers. Start making contacts now as we approach Rare Disease Day on Feb. 28, 2018. Plan to combine efforts with other rare disease organizations in your state and rally for cures, regardless of the disease/gene that you represent.

Rare disease community members represent 10 percent of legislators’ constituents. Know that number before you meet. For instance, if 20,000 people live in your district, 2,000 live with rare diseases.

The legislators in any state’s capital, work for you. Don’t be intimidated; realize the impact you can have by reaching out and/or meeting with your representative or senator. Research them in advance online, find out on which committees they serve, when and where they are in session, and contact their offices regularly.

For instance, in Connecticut, the Human Services Committee has jurisdiction over all matters relating to the Department of Social Services and would include services for the rare disease community.

Meeting with legislators or their staff does not have to happen at their offices. Build a relationship by inviting them to key events and meeting them at theirs. Always say hello so you stand out from the crowd. Keep calling and keep emailing.

Tell them your personal rare disease stories. Talking from the heart has impact. Even if they oppose your proposals for legislation, they’ve heard your story and you’ve offered them a worthwhile perspective that in the end may help change their minds.

Brings notes to keep on-point. Avoid making your pitch sound too complex and don’t share irrelevant information. Leave behind business cards and notepads or pens imprinted with your organization’s logo. Follow up the meeting with a thank-you card and a phone call.

Also, your best friends in the world of lawmakers are their staff members. Staffers keep track of legislators’ calendars and decide when meetings take place. If you do secure a meeting with staff and not the legislator, don’t be insulted as this often is the first step in meeting with a lawmaker in person. Staffers will relay your key points.

Remember, legislators want to do a good job representing the people in their district. They do that by receiving pertinent information from you and your organizations so they can make a difference by developing, sponsoring and enacting legislation beneficial to our rare disease community.

2017 Rare Disease & Orphan Products Breakthrough Summit

A two-day conference in Washington, D.C., earlier this month offered the opportunity for organizations such as Hope in Focus (formally Sofia Sees Hope) to discover the latest in the rare disease community, meet the nation’s top rare-disease professionals, and gather resources and ideas to help with the Leber congenital amaurosis (LCA) community.

More than 670 people attended the first day of the 2017 Rare Disease & Orphan Products Breakthrough Summit on Monday, Oct. 16.

The summit, presented by the National Organization for Rare Diseases (NORD) , included a range of topics, from the challenges of healthcare costs, to the ethical guidelines for patient organizations and themes of collaboration, urgency and transparency.

The summit’s second day featured presentations by the Food & Drug Administration’s leading Division Directors and discussions of improving the lives of patients with rare diseases.

Peter L. Saltonstall, President and CEO of NORD

The conference kicked off with a welcome by Peter L. Saltonstall, President and CEO of NORD, and Marshall L. Summar, M.D., Director of Children’s National Rare Disease Institute, Chief of Genetics and Metabolism at Children’s National Medical Center , and Chairman of NORD’s Board of Directors.

Key presentations included ensuring patient access, sustaining orphan drug development and availability, and reviewing achievements in rare disease drug, biologic and device development.

Mike Porath, founder and CEO of The Mighty and a parent of a child with a rare disease, gave a motivating, multi-faceted presentation in his keynote community address. His advice to families living with a rare disease included asking for help, embracing the moments and dreaming big to open doors for people with rare diseases.

Scott Gottlieb, M.D., Commissioner of the FDA, delivered the administration’s keynote address, talking about the group’s rare disease priorities, the rapid changes in rare disease product development and the basis of the Orphan Drug Act.

Continuing to See Hope for IRD Treatments

At three o’clock Thursday afternoon, Beth Chiarella and I had a very public moment of tears and hugs at Baltimore–Washington International Airport as we received news that after a day of hearing testimony, the Federal Drug Administration’s Advisory Committee unanimously recommended approval of a gene therapy that could reverse or reduce vision loss due to an inherited retinal disease (IRD).

Sofia Sees Hope founder Laura Manfre testifying to Federal Drug Administration’s Advisory Committee about a gene therapy that would help those with RPE65 gene mutation form of LCA

The committee listened to Spark Therapeutics present their research and findings on LUXTURNA® (voretigene neparvovec), an investigational, potential one-time gene therapy, and heard testimonies from families whose lives have been changed dramatically by the therapy. Members then voted 16-0 without comment to endorse approval of the therapy for the treatment of patients with vision loss due to confirmed biallelic RPE65-mediated inherited retinal disease (IRD).

Federal Drug Administration’s Advisory Committee unanimously recommended approval of a gene therapy that could reverse or reduce vision loss due to an inherited retinal disease (IRD).

Alongside the brave individuals and their family members who were part of the clinical trials and traveled to Washington, D.C., to share their personal stories in support of this therapy, I played a small part in what is no doubt an historic moment for all LCA families. I’m grateful to Tami, the oldest participant in the RPE65 trial, who allowed me to share her experience with the panel, reinforcing that this treatment is life-changing at any age, and for any length of time. I’m also grateful to all of those who have made it possible for Sofia Sees Hope to play a role through their continued advice, support and enthusiastic cheerleading.

While this first treatment does not address the dozens of other genetic mutations that cause blindness for LCA and IRD individuals, we can hope that this endorsement will be followed by a potential FDA approval, in turn paving the way for continued research and treatment for my daughter and our entire LCA community. Thursday marked a positive step forward on the path to changing the lives for many people.

Read Laura’s full statement to the Advisory Committee here.

Presenting at FDA Hearing Thursday on RPE65 Genetic Therapy Drug

Hope in Focus (formally Sofia Sees Hope) Co-Founder Laura Manfre will help provide the LCA community’s perspective to a Food & Drug Administration panel Thursday about a proposed genetic therapy for Leber congenital amaurosis (LCA) caused by an RPE65 gene mutation.

“This is such an important event because it allows the patient population — the parents, and children and families — directly impacted by this very important decision-making process to be heard,” Manfre said. “The FDA has a critical job to do in weighing all of the potential risks and benefits with any drug approval, and they recognize that the voice and the experiences of those who are affected needs to be a part of that process.

“Part of Sofia Sees Hope’s mission is to help serve as a connection among families living with LCA,” Manfre continued. “We see this opportunity to offer testimony as another way to fulfill that mission.”

As a presenter at the FDA’s public advisory meeting of the Cellular, Tissue and Gene Therapies Advisory Committee (CTGTAC), Manfre will be representing patients and families living with LCA and other rare inherited retinal diseases. The meeting begins at 8:30 Thursday morning and runs to 5 p.m. at the FDA White Oak Campus in Silver Spring, MD.

The CTGTAC is meeting to make recommendations on the safety and effectiveness of biologics license application for voretigene neparvovec, submitted by Spark Therapeutics, Inc. The proposed gene therapy is to treat patients with vision loss due to confirmed biallelic RPE65 mutation-associated dystrophy.

RPE65 mutation-associated retinal dystrophy is an orphan disease, with an estimated 1,000-3,000 patients affected in the United States, according to A Shared Vision.

Manfre said research and bringing therapies to market provides hope to all LCA and IRD families.

“Though families may struggle with the day-to-day challenges, they can have hope that there just might be a light at the end of the tunnel,” she said.

“To help foster this effort,” she said, “Patients and families need to seek diagnoses, participate in patient registries, and continue to generate awareness and make our voices heard. Our disease is rare, which makes it more important than ever that we are working together to be advocate for our community and to move treatment and cures for blindness forward.”

For the meeting, Spark submitted to the FDA a 149-page briefing detailing the history, background, studies and research that went into developing voretigene neparvovec, which has the proposed trade name LUXTURNA.

The FDA’s 42-page briefing details its analysis of the proposed treatment and offers discussion questions for the advisory committee that include at what age should patients receive treatment and what are the treatment’s potential risks and benefits.

Here are some links for more information about the meeting:

Webcast of the meeting: https://collaboration.fda.gov/ctgtac101217.

‘Walk Around With Your Blindness As a Badge of Triumph’

Doctors diagnosed Jack McCormick in high school with Leber congenital amaurosis due to mutations in the RPE65 gene. With a mix of feelings about his diagnosis, it was when he accepted his visual impairment that he began evolving into the young and innovative leader he is today.

Jack is smart, funny, creative, articulate, compassionate. The 20-year-old also has a passion for inclusion and he is an advocate for accessibility on all fronts.

He is an honors business student at Canada’s Wilfrid Laurier University in Waterloo, Ontario, and he is a member of the National Young Leaders Program for the Foundation Fighting Blindness.

Jack McCormick in a blue shirt sitting next to his black lab, Jake — Jack McCormick and his guide dog Jake.

For a long time, Jack, like many blind or visually impaired people, worked hard at hiding his blindness; he didn’t want people to judge him because of it. But all of that changed in his senior year of high school when he got Jake, his beloved guide dog. Jake immediately made Jack feel like he was wearing a sticker that said, “Hey, I can’t see,” which meant no more hiding.

Acceptance leads to respect and opens pathways to social accessibility and, in turn, helps fuel research, Jack explained before an international audience in Toronto at the Foundation Fighting Blindness Vision Quest 2016 conference.

“I accepted it in myself and that is the most important thing you can do,” he said. “To accept it in yourself and be so confident about it that you walk around with your blindness as a badge of triumph rather than a badge of sorrow or something you’re trying to hide.

“And in doing that, people are going to be very committed to you, they’re going to respect you and respect is a very powerful thing.”

That respect continues in social situations, such as securing a job, and in fostering research, because people will know that blindness is an issue.

“It’s visible,” he said. “If the community sees it, they know it exists. If you’re hiding it, no one knows.”

Along with acceptance, Jack encourages people with blindness to tell their story. “The most powerful thing in your life is your story, so share it. Share it. Because when you do, other people will hear it and they will tell other people and then you’ll have the opportunity to share it with more people and it’s a spiral.”

You can hear more from Jack in his “College Connection” column that appears in our q uarterly newsletter, “Seeing Hope,” and on his personal blog. Watch a video about Jack.