Research from Germany and Australia shows zebrafish functional testing can identify false-positive SMA newborn screening results, preventing unnecessary treatment in rare cases where infants carry functional SMN1 gene variants.
Scholar Rock plans to resubmit its biologics license application for apitegromab in spinal muscular atrophy following FDA reinspection of the Catalent Indiana fill-finish facility, with a U.S. launch anticipated in 2026.
Artificial intelligence is revolutionizing rare disease diagnosis, cutting diagnostic timelines from years to weeks. Rare Disease Day on February 28 highlights challenges faced by over 300 million people worldwide living with more than 7,000 distinct rare conditions.
International Rare Disease Day on February 28 underscores challenges in diagnosing and treating rare genetic conditions, with patients facing years-long diagnostic delays and geographic barriers to accessing gene therapies.
Pharmaceutical companies are increasingly partnering with biotechs developing RNA-targeting small molecules, driven by advances in RNA structural biology and the success of drugs like Roche's Evrysdi. The approach aims to address "undruggable" targets while offering oral availability advantages.
Former Novartis executive John Tsai has been appointed global head of R&D at Daiichi Sankyo, replacing Ken Takeshita effective April 1. Tsai brings over 25 years of leadership experience in drug development.
Drug discovery is expanding beyond traditional protein targets to include RNA-targeting small molecules, cell surface proteins, and sequence-based AI platforms capable of screening billions of candidates across the entire genome.
Drug Hunter's most-accessed resources, reviews, and case studies in 2025 reflected key trends in drug discovery, including the rise of oral macrocycles, advances in new modalities, and the shift from biologics to small molecules in immunology.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT07321990 |
Study of the Reproducibility of the French Version of the Modified SMAFRS Scale |
RECRUITING | |
| NCT07047144 |
A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy |
RECRUITING | PHASE2 |
| NCT06877689 |
EAP of Apitegromab for Patients With Spinal Muscular Atrophy |
NO_LONGER_AVAILABLE | |
| NCT06322654 |
A Head-to-head Study Comparing the Functional Value of Two Models of Robotically Assisted Rehabilitation in SMA (Spinal Muscular Atrophy) Patients |
RECRUITING | NA |
| NCT06300996 |
Spinal Cord Stimulation for the Treatment of Motor Deficits in People With Spinal Muscular Atrophy - Upper Limb |
ACTIVE_NOT_RECRUITING | NA |
| NCT05626855 |
Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab |
ACTIVE_NOT_RECRUITING | PHASE3 |
| NCT05337553 |
A Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy |
ACTIVE_NOT_RECRUITING | PHASE3 |
| NCT05156320 |
Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam |
COMPLETED | PHASE3 |
| NCT05102916 |
Swiss Registry for Neuromuscular Disorders |
RECRUITING | |
| NCT04825119 |
Hyperkinetic Movements in Patients With Disease of Motor Neurons and Their Response to Treatment With Nusinersen |
UNKNOWN |
