World Orphan Drug Congress USA

At the age of 15, a German girl named Anna began having trouble breathing and eating. She started losing weight and lost the ability to speak more than 2 or 3 words at a time. Ultimately, she needed a gastric tube to survive. She was diagnosed with FUS P525L, a nano-rare form of amyotrophic lateral sclerosis (#ALS), the debilitating, fatal neurodegenerative disease usually seen in patients 40 to 70 years old. Neil Shneider, MD, PhD, director of the Eleanor and Lou Gehrig ALS Center at Columbia University’s Department of #Neurology, accepted Anna as a patient and treated her with #jacifusen, an experimental antisense oligonucleotide (ASO) that has helped her regain some elements of a normal life. As Anna, now 19, showed the benefits of individualized treatment that targets the genetic cause of a disease, she was the proof-of-concept needed to establish the nonprofit n-Lorem Foundation. The foundation, discovers and develops individualized ASOs for people with “nano-rare” diseases, defined as those affecting fewer than 30 patients worldwide. It commits to offer that treatment at no cost for life, as long as a patient’s physician says its benefits outweigh the risks. Read more about the n-Lorem foundation here: https://lnkd.in/ed749ccK #NanoRareDisease #RareDiseaseResearch #RDAatWODC World Orphan Drug Congress USA Sarah Glass, PhD Eric Hoffman

#ICYMI CEO Amy Gray and Patient Navigator Mary Morlino recently shared their insights at the World Orphan Drug Congress USA. Amy spoke about building a network for innovation in diagnosis and precision medicine in rare diseases, while Mary moderated the Navigating the Unknown roundtable.  Stay up to date with the most recent developments in the rare, ultra rare, and undiagnosed disease space by subscribing to the UDNF monthly newsletter. https://lnkd.in/ebh6yVu3

🛑 TAKE ACTION: Urge Your Representative to Cosponsor the Creating Hope Reauthorization Act (H.R. 7384/ S.4583)🛑 💢 Since 2012, the FDA has awarded companies that develop life-saving and novel therapies for children with rare diseases with priority review vouchers (PRVs) to help spur innovation in this critical area. 💥 The Creating Hope Reauthorization Act (H.R. 7384/S. 4583) would reauthorize the Pediatric Rare Disease Priority Review Voucher program for four more years. 📢 However, this legislation must pass before the September 30, 2024 deadline to ensure this important tool in ongoing efforts to address the significant unmet treatment needs that exist in the pediatric rare disease population is not lost. How You Can Help - Quick & Easy 📨 Use the link below for an automated letter to urge your representatives to reauthorize the Rare Pediatric Disease Priority Review Voucher Program. It takes less than a minute! ▶ https://lnkd.in/e7MMyMZY Read more: Check out this op-ed by NORD’s CEO, Pamela Gavin in #STAT to learn more about this program and why it’s crucial it be renewed.  ▶ https://lnkd.in/efg3ZrfW Join Pam and other key stakeholders in Boston at next year's World Orphan Drug Congress USA on April 22-24, 2025.

Peter Marks, head of the FDA's #CBER, made a groundbreaking decision by single-handedly approving Sarepta Therapeutics' gene therapy for Duchenne muscular dystrophy (DMD). “It’s a really positive sign for Duchenne, but also a positive sign for some of the other diseases,” said Emil Kakkis, CEO of the rare disease company Ultragenyx. “It just allows the whole ecosystem of development for rare diseases to accelerate.” “Time matters to every single patient with a rare disease,” said Pat Furlong, who founded and leads the nonprofit Parent Project Muscular Dystrophy. “And Dr. Marks’ flexibility indicates that he gets that.” 👥 Peter and Emil attended this years World Orphan Drug Congress USA and if you ever hear them speak you know they truly understand the needs of the rare community. Sometimes you have to take a risk to move the needle and that is something our rare patient advocate groups know better than anyone! Article: https://lnkd.in/eAceKqcG #FDA #GeneTherapy #Biotech #DuchenneMuscularDystrophy #RegulatoryAffairs #DrugApproval

Patient advocacy groups have long sought to raise awareness by putting faces to any number of rare diseases unknown to most people. Beyond the Diagnosis takes that challenge quite literally. The Rhode Island-based charity arranges for artists to paint—at no charge—portraits of children with diseases ranging from cystic fibrosis and spinal muscular atrophy to Prader-Willi syndrome—and some much rarer than these. Its mission, in fact, is to create a portrait for every single rare disease known to humanity. “These kids are not disposable," says Patricia Weltin, founder and CEO of Beyond the Diagnosis. "We wanted to find a way for the medical community to connect with rare-disease children in the hopes it would lead to better care but also treatments and more research funding for these kids.” The exhibit is now up to 150 portraits—and still growing. Read more here: https://lnkd.in/eJiHzQ6K Thank you to the Nizar and Papzoiglou families for sharing your stories with us. #RareDisease #RareDiseaseAdvocate #RareDiseaseAwareness #Zebra #CareAboutRare #FindACure World Orphan Drug Congress USA Jennifer Gillooly Cahoon Dr. Neena Nizar

Incredible news coming from one of World Orphan Drug Congress USA's keynote speakers! Congratulations AstraZeneca on the partnership with Amolyt Pharma to expand your #raredisease pipeline.

Incredible news coming out of the #raredisease space! Congratulations Sciensus & Sentynl Therapeutics, Inc.! World Orphan Drug Congress USA #orphandrugs

Our industry-leading speaker lineup for #WorldOrphanUSA keeps getting better and better! Today we're excited to share the addition of Dr. Ramaiah Muthyala, Professor/Director at University of Minnesota, President and Chief Executive Officer, INDIAN ORGANIZATION FOR RARE DISEASES. 🎤✨ Register as a group with your fellow rare disease enthusiasts and 𝘀𝗮𝘃𝗲 𝘂𝗽 𝘁𝗼 𝟱𝟬% 𝗽𝗲𝗿 𝗽𝗲𝗿𝘀𝗼𝗻! 🎟️ Get half priced tickets today and beat the crowd: https://lnkd.in/egdjKngw Hospitals and patient advocates, secure your FREE pass: https://lnkd.in/eHBF6PVZ Be sure to stay tuned for even more exciting announcements for our 2025 edition! You won't want to miss this. #raredisease #orphandrugs #raredisorders

Wonderful news coming from Sarepta Therapeutics, the #duchenne community, and the FDA! World Orphan Drug Congress USA #DMD #raredisease #genetherapy

Always a pleasure hosting you, AnovoRx! Wonderful blog and insight! World Orphan Drug Congress USA #raredisease #patientcare