One in a Million: A Nationwide Diagnostics Strategy for Ultrarare Diseases
Zahraa Chorghay, PhD
Leveraging integrated healthcare frameworks can significantly reduce diagnostic delays
Rare Disease
Enterprise Therapeutics Granted ‘Rare Pediatric Disease Designation’ in the US for Novel Cystic Fibrosis Investigational Therapy ETD001
Enterprise Therapeutics
ETD001 commenced Phase 2 clinical trials in July 2024, expected to complete in 2025
New Guidelines for Bone Cancer Biopsy
Michael Schubert, PhD
Two consortia have issued best practice recommendations for tissue sampling in osteosarcoma and Ewing sarcoma
FDA Approves Labcorp Cell-Based CDx for Hemophilia Gene Therapy, BEQVEZ
LabCorp
The companion diagnostic will help bring clarity to hemophilia B patients considering BEQVEZ as a treatment option
Using AI to Improve Diagnosis of Rare Genetic Disorders
Baylor College of Medicine
Combining clinical lab expertise with highly curated datasets and automated technology has provided new insights for the most complex genetic conditions
New Drug Slows Rare, Debilitating Genetic Disease in Trials
National Institutes of Health
The NIH-supported clinical trial could lead to the first effective treatment for ACDC disease
FDA Approves First Nonsteroidal Drug for DMD
U.S. Food and Drug Administration
The FDA granted the approval of Duvyzat™ to Italfarmaco S.p.A
Gene Therapy Improves Rare Neurodegenerative Disease in Trial
National Institutes of Health
Treatment for giant axonal neuropathy was well tolerated and slowed loss of motor function
FDA Approves First Gene Therapy for Metachromatic Leukodystrophy
U.S. Food and Drug Administration
The FDA granted approval of Lenmeldy™ to Orchard Therapeutics
Data-Driven Approach May Replace Rare Disease Clinical Trials
The Hospital for Sick Children
Rare diseases may be difficult to study and monitor for long periods due to small sample size and low occurrence