Author Archives: kristin

ALl 3 speakers with 3 members of the Novartis team

Opening Eyes and Rising Up For Blindness

Earlier this month CRBF was able to share our mission at Novartis Pharmaceutical in Boston.  Novartis now owns the rights to Luxturna, a gene therapy that treats LCA-RPE65 blindness, in all countries outside the United States.  After meeting at a large life sciences conference in 2019, CRBF CEO, Kristin Smedley, and Novartis VP, Global Head of Translational Medicine-Ophthalmology, Melissa Lieu, worked together to create an informative presentation about living with blindness for Novartis

The presentation was informational and inspirational.

The CRBF team realizes the importance of research.  It is the reason we started our mission in 2011.  However, we quickly realized the need for resources for blind children and adults to live independently and to thrive without vision until the day an option for sight is available.  The CRBF funds research, raises awareness about resources for living with blindness, and changes perceptions of blindness. It’s no small feat to work a multi-faceted mission, but it’s important work that we are committed to.

Kristin, Michael and Christian
Kristin, Michael and Christian

In an effort to educate the Novartis audience on different perceptions of people that are affected with blindness, Kristin invited two extraordinary young men to help deliver an exciting program.  Her oldest blind son, Michael, is a twenty year old college student.  Michael is blind due to LCA-CRB1.  He is thriving at Penn State University and succeeding without sight in all areas of his life.  Christian Guardino is a twenty year old recording artist and America’s Got Talent finalist who was born with LCA-RPE65.  Christian received Luxturna (gene therapy) that restored much of his vision.  Christian is succeeding with sight in all areas of his life.

Kristin opened the presentation at Novartis with a compelling speech enlightening the standing room only crowd about how a person that is blind can do just fine if there is access to tools and resources for literacy, independence, etc.  She also presented the financial impact that raising two sons with a rare blidnness has had on her family. Michael demonstrated the technology he uses every day to access his schoolwork, navigate a very large campus, and have a vibrant social life.  He wow’d the crowd with the speed of his “voice over” feature on his iphone and had everyone in awe of just how much he accomplishes in a day – which is an overwhelming amount regardless if you are blind OR sighted! Christian articulated what life was like before and after gene therapy.  His story of seeing the moon for the first time brought the audience to tears. And when he performed his rendition of “Rise Up” he brought the audience to cheers in a standing ovation.

Michael under a huge slide with his Twitter handle @Smedley_Mike
CRB1-LCA patient and presenter Michael Smedley, Jr.

The most compelling part of the program, however, was the panel at the end of the program where each of the young men expressed the joy that each of their lives are.  They are living exactly how they want to live, one with vision, one without.  They are equally enjoying their lives and having extraordinary success.  Best of all, the underlying message received by all was that both of the young men are very grateful to those that work towards treatments as well as those that work toward accessibility. 

Kristin and Michael
CRBF CEO Kristin Smedley and her son, Michael

To round out the day, Kristin pointed out that her role in this organization, and as a Mom of two CRB1-LCA patients, is to coordinate research for options for sight, in addition to connect to resources to thrive without sight.  It is our role, in her opinion, to give the patients options and respect their choice of which route they wish to take.

 If you are wondering what the audience at Novartis thought of the program:

  “unforgettable and inspirational”

“Incredibly moving and inspirational.”

“Thank you all for an amazing inspiring event. You thanked us for what we do but we owe you tons of thanks for making us know that what you do can make a real difference in people’s lives. And I loved witnessing all of your amazing talents!!”

“Such an inspiring and motivating event for us scientists!”

The CRBF is so grateful for the opportunity to share this presentation at Novartis and incredibly grateful to the LCA and inherited retinal disease community for always jumping in to collaborate and spread awareness TOGETHER!

pictire of a sunrise with the words "Lets Rise 2020" on it and the CRB1.org logo

Our “One Word” for 2020

You may have heard about the “One Word” movement. If not, basically, instead of making a New Year’s Resolution (or for many it’s in addition to the resolutions) you choose one word that you will focus on for the entire year that ultmately guides your focus. Last year Melinda Gates chose “grace”. Jon Gordon has used words like
PURPOSE, SURRENDER, SERVE, PRAY, as his One Word in past years.

When a family receives a CRB1 LCA/RP diagnosis, “devastated” is the one word that is used most frequently in the emails, Facebook posts, tweets, texts, and phone calls to family, friends, and us, the patient organization for this disease.  Indeed, for parents it is devastating to hear that their hopes and dreams for their child have been extinguished, and fear sets in deep into their DNA, as they try to imagine a life of blindness when they likely have never even met a blind person.

When you receive a challenging diagnosis, the news hits hard.  But when you receive a rare disease diagnosis, you enter a world where there are no Hollywood stars calling attention to it, there are no Super Bowl commercials raising money for it, and there are certainly no support groups at churches far and wide to help you navigate the journey.   Hopeless.  That’s the second most used word these families verbalize and experience day in and day out.

And then along comes a group of families that want to change the journey for these patients, to change the one word from “devastation” and “hopelessness” to  COMMUNITY and THRIVING and… HOPE.

That is what the CRBF team that leads this patient organization is committed to bringing to all families diagnosed with CRB1 retinal disease: Hope… by way of research, resources, and most of all… connection.

CONNECTION is our One Word for this year.

The CRBF team has been entrenched in the medical research community for nine years, specifically the rare eye disease research community, to explore possible options to cure CRB1 retinal disease.  There are many facets to a disease like CRB1 and when looking at potential treatment options, there are a multitude of factors that have to be figured out.  You have to determine the “tell-tale signs” of the disease (biomarkers).   You have to determine the onset point of the disease and plot out how it progresses (natural history study).  And when the miraculous part of the journey comes and you have to design a clinical trial to test therapies to halt and possibly reverse the disease, you need to determine what a good, meaningful outcome is to measure if a therapy works (endpoint).

That’s the science side of this mission in a very small read-this-post-in-one-coffee-cup nutshell. Our team has coordinated an effort for research that has moved further and faster than anyone ever expected.  Yet, if you know science even a little bit, you know that science moves at an incredibly slooooowwwwww pace.  So what about the “in the meantime”, the in-between years from diagnosis day to treatment day?

A few years ago, our CRBF team added a focus to our mission:  connecting our CRB1 families to resources for living, or more importantly, thriving with blindness.  It started quite simply with adding some resources to the website and talking on the phone with newly diagnosed families.  We also created a private Facebook group where families ask questions and share resources.  As many, many folks affected by rare disease know, connection to others like yourself, walking your walk, living your daily struggles, is likely one of the very best resources in moving out of devastation and into thriving.  To that end, we are stepping into a much more dynamic and information packed facet of our work to support our families through connections throughout our CRB1 community. 

Here are some ways we are working to connect our families to each other and to the information they need:

  • CRB1 family meet ups (USA) – we are planning three family meet ups (East Coast, Midwest, West Coast)  The first of these will happen in tandem with the National Organization for Rare Disorders annual summit taking place at the Rock and Roll Hall of Fame in Cleveland, Ohio in April.  Additional USA meet up dates and locations will be released soon.  (Events in Spain and the UK are being planned as well!)
  • CRB1 Knowledge Portal – our brand new website will welcome this  incredible new resource (in Phase 2 of the re-design) to give families, patients, specialists, educators, researchers, etc a place to go to learn more about the disease and the people affected by it.

In this new decade our theme is “LET’S RISE.” We will rise together in the new decade.  Together.  All affected families.  Supporting research for vision and resources for thriving. 

The CRBF is committing in 2020 to help our families RISE through Connection.  Please get in touch with us at CuringRetinalBlindness@gmail.com to let us know how we can help you connect to our mission.

For more information on the One Word philosophy, visit
http://jongordon.com/blog/choose-your-one-word-2020/

Patients Now Have An Opportunity To Drive CRB1 Research and Advocacy

The latest development in moving research forward for CRB1 LCA/RP retinal disease involves a collaborative effort between the CRBF, Sanford Research, and best of all… patients!  The CRB1 patient registry is an opportunity for patients to help drive research and advocacy for this rare eye disease.  Here’s a short overview (with links to more in depth resources) to better understand the need and value in a patient registry.

What is a patient registry?

From the National Institutes of Health: A registry is a collection of information about individuals, usually focused around a specific diagnosis or condition. Many registries collect information about people who have a specific disease or condition, while others seek participants of varying health status who may be willing to participate in research about a particular disease. Individuals provide information about themselves to these registries on a voluntary basis. For more info from the NIH regarding registries visit here.

Why is a registry important?

Visit the National Organization for Rare Disorders (NORD) website (link here) to see an interview with Medscape and Marshall L. Summar, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C. and NORD board member, where Dr. Summer discusses the importance of patient registries for rare diseases.

From the NORD website: According to Dr. Summar, registries can accelerate the process of treatment and help physicians address the big knowledge gap about what happens in the day-to-day lives of patients.  By better understanding what is happening with rare disease patients, “we can develop better therapies by understanding conditions and the long-term consequences of rare disease.”

Is there anything in addition to research for treatments that a registry can be useful for?

The CRBF is also using the CoRDS registry to collect data regarding living with this rare eye disease, specifically whether the patient is a Braille, large print, or regular print reader.  This information will help  families, educators, etc  advocate for services for younger CRB1 LCA/RP patients so they are equipped with the necessary tools to thrive in educational settings.

How can CRB1 LCA/RP patients enroll in the registry?

If you or a family member received a diagnosis of CRB1 retinal disease diagnosis, please visit the CoRDS page for CRB1 here and click Enroll Now.

The CRBF is proud to partner with Sanford Research and CRB1 patient families in this exciting step in our journey toward treatemtns and resources for this inherited retinal disease. For questions regarding participation int he CRB1 LCA/RP registry please send an email to curingretinalblindness@gmail.com

Three women standing at the Life Sciences PA Pavillion sign.

CRBF at BIO International Convention 2019!

“Wow.” That’s pretty much the word first time attendees at BIO’s annual convention use, a lot. With over 17,000 people from 49 states and 67 countries in attendance, and expo booths bigger and more plentiful than you can likely imagine, “wow” is what the convention does. 

The BIO International Convention is hosted by Biotechnology Innovation Organization (BIO).  BIO represents more than 1,100 biotechnology companies, academic institutions, biotechnology centers and related organizations across the United States and in more than thirty other nations.

This year, the massive convention was held in Philadelphia, home of CRBF President, Kristin Smedley. Kristin documented her attendance to give you an up close look at the convention and a bit of a window into how the CRBF networks to advance our mission.

First, the fun part of the convention: the Expo Center!  Kristin’s says, “It.  Was.  Massive.”  You have likely been to an expo style event before with booths big and small, right?  The BIO Expo Center was filled with massive structures representing every country!  Some were so big they had a stage in the “booth” for presentations.  Others had configurations of couches, tables, and chairs for meetings.  Many had snack bars and drink buffets.  And much to Kristin’s delight, many had coffee stations!

Since Pennsylvania was the host of the convention, Life Sciences PA, the only life sciences trade association in Pennsylvania, hosted one of the biggest “pavilions” in the Expo Center.  In the picture you can see the massive space full of functional meeting areas for people to get together.  Kristin held several meetings there and it ended up being her “base camp” to meet up with rare disease advocacy colleagues from all over the country.

LArge Pennsylvania signs hanging from high ceiling. Tables and chairs and people milling around.
Life Sciences PA’s Pennsylvania Pavillion at #BIO2019

One of the most informative meetings Kristin held at that pavilion was with Advanta, a life sciences branding and marketing company.  Kristin was captivated by Advanta’s knowledge of the life sciences work and passion to help companies and organizations build a brand and tell their story effectively to spread their missions more efficiently.  Kristin and Steph (Advanta’s CEO) talked at length about using things like websites, media and literature to effectively spread a mission.  Stay tuned for more on this meeting.

The biggest opportunity Kristin had while at the Life Sciences PA pavilion was only about  3 minutes long.  Kristin got to meet and chat with the Governor of Pennsylvania, Tom Wolf.  Kristin reports that that 3 minutes of incredible face time with the Governor was a testament to the power of being a part of an extraordinary organization.  Imagine the scene: hundreds of people are in and around the pavilion when the Governor walks in with his staff, security, photographers, etc.  A swarm of people gather as the CEO of Life Sciences PA welcomes him and they start chatting.  Tons of people from the industry want a few minutes with the Governor.  Many of them got that time. 

But an interesting thing happened.  You see, there is a lot of talk in this field about all of the work being “about the patient.” But so many times the patient is left out of pretty much everything.  Things are getting better, and there are organizations and companies that are models of true patient centered work.  Life Sciences PA is one of those organizations.  CEO Chris Molineux saw Kristin Smedley standing in the crowd trying to get a minute with the Governor.  He politely steered a few folks away and announced that while he was so proud of all the work being done in Pennsylvania, it is nothing without the patients we serve.  Then, he introduced the Governor to Kristin, and she had a great conversation with him, thanking him for what is going well in PA in terms of the education of blind children.  She then offered to talk with him at a later time about where she sees the need for a few improvements.  The Governor was quite interested to learn more.  Stay tuned for that follow up meeting.

PA Governor Tom Wolf talking with CRBF President Kristin Smedley

There were thousands of presentations, meet ups and connections at BIO 2019 and CRBF was involved in a lot of them.  You’ll be seeing the impact of this convention on our work in the coming months.  It was an extraordinary opportunity to be there and connect our mission to those that can help us grow.

If you would like to discuss ways to help our mission grow in research, fundraising, advocacy or outreach to the CRB1 patients, please send an email to connect@crb1.org

FDA approves first ever gene therapy for rare eye disease!

FOR IMMEDIATE RELEASE: 

The Curing Retinal Blindness Foundation Joins the Rare Eye Disease Community in Celebrating the First Ever FDA Approved Treatment for Blindness

December 19, 2017 Bucks County, PA – The Curing Retinal Blindness Foundation is proud to be a part of this historic day today as Spark Therapeutics (NASDAQ:ONCE), a fully integrated gene therapy company dedicated to challenging the inevitability of genetic disease, announced that the U.S. Food and Drug Administration (FDA) has approved LUXTURNA™ (voretigene neparvovec-rzyl), a one-time gene therapy product indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. LUXTURNA should only be administered to patients with mutations on both copies of the RPE65 gene who have sufficient viable retinal cells as determined by their treating physicians.

LUXTURNA is the first FDA-approved gene therapy for a genetic disease, the first and only pharmacologic treatment for an inherited retinal disease (IRD) and the first adeno-associated virus (AAV) vector gene therapy approved in the U.S.

“During the more than 12 years of innovative research with dedicated collaborators near and far, I’ve witnessed the dramatic improvement in vision in many patients who would have otherwise lost their sight,” said Jean Bennett, the F.M. Kirby Professor of Ophthalmology in the Perelman School of Medicine at the University of Pennsylvania and Penn’s Scheie Eye Institute. “I believe that the success of the LUXTURNA clinical development program will pave the way for the development of other gene therapies, that may help the millions of patients with genetic diseases who currently have limited or no treatment options.”

“The FDA approval of Luxturna just gave patients living with rare eye disease more than hope – it has given them a concrete example that treating blindness is possible and effective,” said Kristin Smedley, President and Co-Founder of the Curing Retinal Blindness Foundation. “The decades long timeline from basic research to this approval day is proof that hope can indeed carry you a long way.”

 

About Gene Therapy
Gene therapy is an approach to treat or prevent genetic disease by seeking to augment, replace or suppress one or more mutated genes with functional copies. It addresses the root cause of an inherited disease by enabling the body to produce a protein or proteins necessary to restore health or to stop making a harmful protein or proteins, with the potential of bringing back function in the diseased cells and/or slowing disease progression. To deliver the functional gene into the cell, a vector is used to transport the desired gene and is delivered either intravenously or injected into specific tissue. The goal is to enable, through the one-time administration of gene therapy, a lasting therapeutic effect.

About Spark Therapeutics 
At Spark Therapeutics, a fully integrated company committed to discovering, developing and delivering gene therapies, we challenge the inevitability of genetic diseases, including blindness, hemophilia and neurodegenerative diseases. We have successfully applied our technology in the first FDA-approved gene therapy in the U.S. for a genetic disease, and currently have three programs in clinical trials, including product candidates that have shown promising early results in patients with hemophilia. At Spark, we see the path to a world where no life is limited by genetic disease. For more information, visit www.sparktx.com

.About Curing Retinal Blindness Foundation (CRBF)

The CRBF is a 501(c)(3) organization dedicated to funding research to promote treatments and cures for CRB1 degenerative retinal disease and connecting patients to resources for living with blindness.  The children in this foundation are blind or visually impaired due to mutations in the CRB1 gene causing a rare genetic disease, a degenerative retinal disease (Leber’s Congenital Amaurosis, Retinitis Pigmentosa, or cone-rod dystrophy) Some of the children have already lost almost 100% of their sight. Many of the children still have some useable vision, but it will deteriorate if nothing is done to stop the degeneration.

FOR MORE INFORMATION CONTACT:

Kristin Smedley

curingretinalblindness@gmail.com

267.566.9068

www.crb1.org