The Rare Moments

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!

The Orphan Drug Act (ODA) of 1983 made the development of desperately needed new treatments for rare disease patient communities a possibility in ways it truly had not been before. Over the 40 years of the ODA, 6,340 orphan drug designations were granted, representing drug development for 1,079 rare diseases. Additionally, 882 of those designations resulted in at least one FDA approval for use in 392 rare diseases. While having an approved treatment option for 5% of rare disease communities is progress, we’ve seen time and again how partnering with patient communities increases efficiency. Let’s all do more of that!

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!

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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/

So excited that the countdown to Rare Disease Day has begun! I’m looking forward to attending Rare Disease Week on Capitol Hill in Washington, DC. This important week connects patients, advocates, caregivers, and community members with members of Congress to enact much-needed change to inform policy that impacts patients and families living with a rare disease. Keep your eyes on this page during that week, as we’ll continue to post updates as they occur.

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.