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) discussed the successful treatment of KJ Muldoon, a baby born with a rare, life-threatening liver ...
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 MAGNITUDE study experienced severe liver toxicity, specifically elevated liver transaminases and increased total bilirubin, in ...
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 completely mysterious. The ability to discover this hidden knowledge and apply it in the real ...
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 1 (CPS1) deficiency. This ultra-rare disease affects around 1 in 1,300,000 individuals, and only half ...
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 up at a pediatric appointment, but she was dismissed as being a nervous first-time parent. ...
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 to over 10,000 mg/dL, she wouldn’t receive a diagnosis of familial chylomicronemia syndrome (FCS) for ...
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 ...
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 ...
OTS Member Highlight – Dr. Timothy Yu
The sometimes twisty, sometimes intuitive, sometimes amazingly elegant hidden logic of the natural world has ...
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 ...
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 ...
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 ...
