Beyond the “Too Rare” Barrier: Platforms for Rare Mutations Leverage New Regulatory Tool
In November, Food and Drug Administration (FDA) officials introduced the Plausible Mechanism Pathway, a regulatory tool designed to make it easier to approve treatments — specifically investigational gene therapies — for rare conditions. An article published in The New England Journal of Medicine (1) ...
Phase 3 Trials of Intellia’s Nex-z CRISPR Therapy Resume after the Clinical Holds are Lifted
Intellia Therapeutics recently announced that the U.S. Food and Drug Administration (FDA) has lifted the hold on its clinical trial for the investigational CRISPR-based gene-editing therapy, nexiguran ziclumeran, also known as nex-z or NTLA-2001. The four-month hold was implemented after a patient in the ...
OTS Member Highlight – Dr. Timothy Yu
The sometimes twisty, sometimes intuitive, sometimes amazingly elegant hidden logic of the natural world has always fascinated Dr. Timothy Yu. Knowledge we now take for granted — the genetic code, machinery of transcription, or the layered biological logic of developmental patterning — were once ...
FDA’s Plausible Mechanism Pathway for Personalized Therapies to Treat Rare Diseases
The clock was ticking as soon as baby KJ was born in the summer of 2024. Within two days of his birth, he was lethargic and struggled to breathe. His blood test results showed elevated ammonia levels, leading to a diagnosis of carbamoyl-phosphate synthetase ...
Zilganersen Trial Shows Slowed Disease Progression and Improvement in Gait Speed
Hailey was born a healthy baby, her mom says, hitting all her infant milestones like rolling over and sitting up. But at nine months old, she began falling over when she sat up and having constipation and little sleep. Her concerned mom brought it ...
Targeting APOC3: Redemplo Joins the Growing Landscape of Treatment for FCS
When Julie was just 18, her blood results revealed alarmingly high triglyceride levels at over 1,000 mg/dL. Two years later, she had her first acute pancreatitis attack. Although she would suffer from monthly pancreatitis flares after having her son and her triglycerides would escalate ...
TfR1-Targeted Bicyclic Peptide-Oligonucleotide Conjugates for Improved Potency and Enhanced Muscle Delivery
Antisense oligonucleotides (ASOs) and small interfering RNAs (siRNAs) are uniquely suited to address single-gene diseases affecting skeletal and cardiac muscles. While distributed broadly, they are more likely to accumulate in the liver and kidneys than muscles, thus limiting their treatment applicability. Additionally, the anticipated ...
OTS Member Highlight – Dr. Rebecca Miles
The incoming OTS President, Dr. Rebecca Miles, has always been curious about the way things work, and in high school, a human anatomy and physiology class sparked her passion for researching human diseases. As the first person in her family to pursue higher education, ...
Small Nuclear RNAs (snRNAs) Enhance RNA Base Editing
Gene editing technologies are transforming molecular medicine, offering unprecedented potential to treat — and even cure — a range of genetic disorders. However, as tools like CRISPR enter clinical settings, concerns about its safety, specificity, and long-term side effects, such as off-target edits or ...
Leveraging Nature’s Carrier: Albumin-Binding Dendritic siRNA for Enhanced Tumor Targeting
Small interfering RNA (siRNA) therapeutics are rapidly reshaping the landscape of precision medicine, offering the ability to silence disease-driving genes with exceptional specificity and durability. However, due to delivery barriers, the promise of siRNA therapy has largely been confined to the liver. Recent advances ...
