🧬 This Week in Rare Diseases: Genome Testing, First Approvals, Global Designations & R&D Shake-Ups!
From groundbreaking national genomics initiatives to the first FDA-approved drug for alkaptonuria, this week’s Rare Disease roundup dives deep into clinical milestones, policy shifts, and funding that’s shaping the orphan drug landscape. Whether you’re in clinical development, regulatory affairs, or advocacy, these updates offer timely insights into a fast-moving space.
🧪 In This Episode
👶 NHS to sequence all newborn genomes to detect over 7,000 rare diseases — backed by £650M investment
💉 FDA approves Harliku — first-ever treatment for alkaptonuria
🔬 BPGbio’s BPM31510 shows strength and coordination gains in CoQ10 deficiency; FDA consult planned
đź’° Actio Biosciences raises $66M to advance rare epilepsy (KCNT1) and CMT2C therapies
⚖️ Senate GOP removes Orphan Drug Exemptions — industry expresses R&D concerns
🧠Diagonal’s DIAG723 earns orphan drug status from FDA and EMA for HHT
🌿 Jaguar Health’s crofelemer cuts parenteral nutrition needs by 27% in MVID pediatric trial
🧪 Palvella exceeds Phase 3 QTORIN™ Rapamycin enrollment for microcystic lymphatic malformations
❤️ Ifetroban improves heart function in DMD — 5.4% LVEF gain over 12 months
🔬 Larimar outlines accelerated pathway for nomlabofusp in Friedreich’s ataxia — BLA set for Q2 2026
🧠Chiesi & Key2Brain partner to develop CNS-targeted ERTs for alpha-mannosidosis and Krabbe disease
🧬 Cure Rare Disease receives FDA feedback supporting trial design for LGMDR9 gene therapy
👶 QRX003 earns Rare Pediatric Disease Designation for Netherton Syndrome — EMA supports with Orphan status
🧾 JR-446 gains Orphan Drug Designation in EU for MPS IIIB — targeting CNS symptoms with J-Brain Cargo®
💊 PHI-101 receives EMA Orphan Drug Designation for FLT3-mutated AML — AI-designed with strong Phase 1 data
Whether you’re a clinician, biotech strategist, or investor in the rare disease space, this update equips you with the insights needed to stay ahead in a rapidly evolving landscape.
📢 Stay Ahead in Rare Disease Research!
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