You know those rare moments that give you goosebumps? The ones that provide a new perspective, connect two ideas in a way you’ve never considered before, or just really hit home?
For Rare Disease Day this February, you’ll find a curation of those moments here — The Rare Moments. Patients, families, researchers, and people working to advance rare disease treatments will be using this space to pass on their goosebump moments. From past moments, to the significant highlights of the 2024 Rare Disease Week and Rare Disease Day, and even hopes for the future, here you will find diverse and valuable insights that matter to our community and expand our reader’s understanding of what it means to live with and work with rare diseases.
Be sure to check back regularly throughout the month to catch the latest posts and submit your Rare Moment for consideration!
See what’s been sharedThis feed is no longer active or accepting submissions, but we encourage you to check out the posts below which were submitted during February 2024 in support of Rare Disease Day.
Thank you for sharing and reading this curation from our rare disease community!
This Rare Disease Day, I am thinking about how phenomenal it is to see how rare oncology patients have benefitted from the 6 CAR T treatments now available! It is exciting to watch how continued advancements have turned CAR T into a new development paradigm for autoimmune diseases – looking forward to seeing these additional patient communities benefit from cell therapy!
With extensive commercialization expertise and deep knowledge of rare diseases, Trinity Life Sciences has supported the launches of some of the most impactful drugs and therapies globally. We remain committed to helping our clients overcome unique commercialization challenges faced by specialized treatments and strive to create a better future for those living with rare diseases.
With approval of the first treatment to use gene editing to address a genetic rare disease, plus all the very recent innovations in base editing, prime editing, and lipid nanoparticle delivery, I’m hopeful we’ll see an ever-increasing number of gene editing programs in development for patient communities with genetically driven rare diseases. Kudos to the pioneers with development programs for rare cardiovascular diseases, rare blood cancers, rare hemoglobinopathies, rare bleeding disorders, rare metabolic disorders, rare neuromuscular diseases, and rare inherited retinal diseases!
So incredibly touched to receive this book from our friends at Ultragenyx. Dr. Emil Kakkis has been at the forefront of rare disease research throughout his entire career. I’m looking forward to reading this book throughout Rare Disease Week!
I’ve worked in this industry approaching 25 years. When I first started, most clinical trials focused on treating disease symptoms so patients could feel better and live fuller lives. Today, though, we’re treating the underlying pathophysiology of diseases, and we’ve only just begun to do amazing science. I’m proud of the work our global teams are doing in Precision Medicine and Personalized Medicines, hopefully leading to a brighter future for rare disease patients everywhere.
We have been able to push forward 30 years of work on galactosialidosis disorder one step closer to clinical trial after submitting a pre-IND to FDA in 2024!
Check out our website, below:
I am in an extended family caregiver circle for a child recently diagnosed with a rare disease. The journey has been humbling and heartbreaking, and my lens continues to change with the work that needs to be done in this space. It’s not just a day, week, or month to highlight; it’s all day, every day, a constant struggle for families and caregivers every hour, a deeply vulnerable space where they need to have Clinical Research as a care option, no matter where they are in the world.
I know I’m privileged to work in this industry to help make a difference, helping companies navigate the development pathways, communicating with regulatory agencies, working with my colleagues to help incorporate the patient voice, and ensuring the experiences that patients and caregivers have in a clinical trial have them front and center not just data points in studies.
My personal lens serves only to raise the game with what we need to do. I am here to help make treatments for rare diseases less rare. Patients can’t wait.
https://www.efpia.eu/about-medicines/development-of-medicines/intellectual-property/help-us-make-rare-disease-even-rarer/
I’m amazed with the technologies used to treat patients living with a rare disease, including gene-based therapeutics. These drugs often target the underlying cause of the disease. One example of this is Casgevy, which was approved to treat patients with sickle cell disease in December 2023 and was recently approved for patients with beta-thalassemia in January 2024. I look forward to seeing more of these treatments throughout 2024.
www.fiercepharma.com/pharma/vertex-crispr-win-early-fda-nod-gene-therapy-casgevy-treat-beta-thalassemiaMy son was born with the disease biliary atresia, a serious and life-threatening disease in which babies are born with an abnormal opening in their bile ducts, either outside or inside the liver. BA is rare and only affects 1 out of every 18,000 infants, according to the NIH website. Without treatments, surgery, or transplants, the infants with BA are unlikely to live past the age of 2 years. My son received his life-saving liver transplant as an infant. The follow-up biopsy appointments, regular blood draws, and a scary time post-transplant with elevated EBV, there have been so many ups and downs. A short time ago, we were unsure where his path would lead. We had to do school from home, and his activities were limited. I am happy to share that my son is now in 3rd grade. He is doing well academically, and he’s playing soccer on a club team. He’s living a happy and active life thanks to a care team that included many doctors, nurses, patient advocates, and the pharmaceutical drugs that keep him healthy.
www.linkedin.com/posts/tearomeromba_rarediseaseday2021-biliaryatresia-activity-6771818075999264768-mySkTéa Romero, MPsy, MBA on LinkedIn: Rare Disease Day: Biliary Atresia
How is your family impacted by Rare Disease? #rarediseaseday2021 #biliaryatresia
www.linkedin.comThe number of rare disease clinical trials increases every year. Not only are these trials getting more and more complex, but the mode of administration is often very challenging. In December 2023, the FDA released its guidance document entitled Rare Diseases: Considerations for the Development of Drugs and Biological Products. The comments from the FDA on the importance of engaging patients, caregivers, and their advocates in the drug development process is something we take very seriously at Worldwide.
www.fda.gov/regulatory-information/search-fda-guidance-documents/rare-diseases-considerations-development-drugs-and-biological-productsGuidance for Industry
Rare Diseases: Considerations for the Development of Drugs and Biological Products
www.fda.gov