Sevion Therapeutics and Eloxx Pharmaceuticals announced that a first healthy subject has been dosed in a Phase 1b clinical trial assessing the safety, tolerability and drug properties of ELX-02 as a potential treatment of several genetic diseases caused by nonsense mutations, including cystic fibrosis (CF).
Eloxx Pharmaceuticals Announces Expansion of Intellectual Property Estate for ELX-02 with Newly Granted Patent in Europe
Sevion Therapeutics, Inc. (OTCQB:SVON) and Eloxx Continue reading Biopharmaceutical company developing novel small molecule medicines for genetic diseases caused by nonsense mutations
Translarna’s Turn In Cystic Fibrosis And Brodalumab’s Approval Tardiness
Welcome to your weekly digest of approaching regulatory and clinical readouts. PTC Therapeutics (NASDAQ:PTC) is awaiting data in the first quarter with its transcription modulator Translarna in nonsense Continue reading Hopeful new clinical trails for nonsense mutations
Originally posted on Emily’s Entourage, on July 21, 2016
Today’s guest blog post was written by Emily and adapted from a speech delivered at the Global Genes and Penn Orphan Disease Center’s Rare Patient Advocacy Symposium.
Like so many of you, I’ve been thrust into this role of disruptor out of desperation.
I’m learning on the job every moment of everyday. It’s a 24/7 job. It is painstaking, relentless work; there are no breaks; and then there’s this fatal disease to manage on top of it.
It’s a crazy, dizzying reality.
And so while I’m certainly no expert, I’d like to share with you a few things I’ve picked up along the way.
#1: Stories are powerful.
You don’t realize the power of your story until you start telling it. It might be uncomfortable, but it’s a means to an end, and nothing touches people’s hearts like stories. It’s that thread of humanity that binds us together, and it’s pretty spectacular to see how much people connect and care.
#2: It’s all about relationships.
Everything that has happened for EE, every major development, every pivotal connection, every advance in research, it’s all been because of relationships. When the test tube says Emily and not some random digital code, it matters.
So go to the labs, talk to the scientists, SHOW UP. Make it painfully personal. There’s nothing in the world more motivating.
#3: Nobody can be a better or more tireless advocate than you.
I’m participating in a study where I’m be the first and only person in the world to try the therapy. The idea? It came from me and my mom. We have no scientific background, just a huge vested interest in the outcome, some creativity, and logic.
Of course we vetted it with tons of scientists and did all of our homework, but the original idea was all ours — ordinary, everyday Emily and Liza’s. Don’t underestimate your voice, your brain, your creativity, and your ideas.
#4: Be relentless.
When there’s a roadblock, find a creative way around and keep at it. Push and push and push and don’t accept no for an answer if you believe in what you’re fighting for.
#5: People really care, but you have to ask for them to step up and help.
If you don’t ask, the answer is always no. I’m naturally a very private person, a total introvert who hates asking for things. The only thing that has kept me sharing such personal details of my life and medical journey is the outpouring of love and support that results–and seeing how people rise.
After our inaugural event in NYC, I can’t tell you how many people came up to me and THANKED ME for the opportunity to get involved.
People want to be part of something bigger. They want to do good things. They want to make impact. It’s up to us to give them the opportunities. And it takes guts.
#6: You need a scientist champion and a respected Scientific Advisory Board.
When we first started making phone calls to labs and biotechs, people wouldn’t even answer the phone (or they promptly hung up!).
A scientist champion is your key into the scientific world and a respected Scientific Advisory Board is essential for vetting research projects and securing major gifts and grants. People need to know their money is going to reputable work.
#7: Build a nest of trusted advisors.
It truly takes a village.
We were thrust into this role of running a foundation. We still have no idea what we’re doing, we just know what we want and that we are willing to do whatever it takes to get there.
By building a nest of advisors, we draw on the expertise of so many different, brilliant people and pull them onboard.
We’ve had the privilege of meeting some of the most remarkable individuals. We call them our guardian angels and our progress is a testament to — and totally dependent on — them
#8: Don’t underestimate the value of YOUR creativity and ideas.
Sometimes the greatest innovation comes from outside of the biomedical institution.
Nobody has a bigger vested interest in your future. Desperation spurs creativity and innovation. You don’t need a PhD to have great ideas. Believe in them and tenaciously pursue them.
#9: Digital technology is your best friend.
Technology is democratizing; content is king. Use technology to spread your content far and wide. The world is at your fingertips and they’re eager to hear your story. Make it concise. Make it compelling. Make it easily sharable.
#10: Know what you want.
You need a clearly defined research goal to raise money and effectively mobilize a community. Do your homework, identify the leading researchers, labs, biotechs, pharma and all the key stakeholders, and bring them together. It’s essential to draw on their expertise to clearly articulate your research strategy.
People want to fund good work, but they need to know the targets. And so do you! Otherwise, your wheels will be spinning, and let’s be honest, we don’t have time or energy to waste.
Emily’s Entourage is a work in progress. We are learning as we go. We constantly have to realign, refocus on our end goal, and troubleshoot — and it is HARD.
I think about EE every second of the day, with every breath I take. Literally.
What’s next? How do we grow? How do we make the research go faster? How do we add more revenue streams? How do we make the organization sustainable? How do I balance running EE and managing my health?
So many questions. So much to do. So little time — with a disease that rages on and robs me of my life, my energy, my breath.
I feel the crunch of time, the terror of disease progression, ALL the time. And that is the propeller.
At Emily’s Entourage, we pledge to keep at this, with this same vigor until there is a cure for EVERYONE with CF. And then, we pledge to take these lessons learned and apply them to another disease, to help another disease community get to the finish line. That is our greatest wish. That would be our dream come true.
Shared from: 1 July 2016 Author: Caroline Richards, Editor, European Pharmaceutical Review
Despite the fact that over 1,900 mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) are known to cause cystic fibrosis (CF), a debilitating inherited genetic disorder that progressively reduces organ function Continue reading Exploring the need for mutation-specific treatments in cystic fibrosis
Why did I go through the effort of finding out my CF mutations? I am a recipient of a bilateral lung transplant, I no longer have CF in my lungs and I am living post transplant now 16 years. So, what can knowing my alleles do Continue reading Mutations and What They Might Mean
Southern Research will use a sophisticated screening process to identify compounds in its chemical library that could promote the production of functional CFTR protein. In individuals with CF, a defective CFTR protein leads to Continue reading Cystic Fibrosis Foundation Therapeutics Announces $7.5 Million Award to Discover New Therapies for Nonsense Mutations
Reprinted from Cystic Fibrosis News Today
The European Medicines Agency (EMA) recently announced that it has validated the submission of a new indication for Translarna (ataluren) developed by PTC Therapeutics as a nonsense mutation cystic fibrosis (nmCF) treatment.
PTC Therapeutics, a company that develops and assembles an integrated set of proprietary technologies focused on understanding of RNA biology for the discovery of novel small molecule therapeutics, recently stated that the variant is Continue reading PTC Therapeutics’ Cystic Fibrosis Nonsense Mutation Therapy Translarna Receives Key EMA Validation
The European Medicines Agency (EMA) has validated the submission of a variation for a new indication for PTC Therapeutics’ Translarna (ataluren) for the treatment of nonsense mutation cystic fibrosis (nmCF) for patients not taking Continue reading PTC submits EU application for Translarna for cystic fibrosis