Signals
5FDA approves leucovorin calcium as first treatment for CFD-FOLR1
The FDA has approved expanded use of Wellcovorin (leucovorin calcium) tablets for cerebral folate deficiency caused by confirmed FOLR1 gene variants, marking the first approved treatment for this rare neurological condition in adults and children.
FDA approves tividenofusp alfa for neurologic Hunter syndrome
The FDA approved Avlayah (tividenofusp alfa-eknm) to treat the neurologic manifestations of MPS II (Hunter syndrome), marking the first therapy specifically indicated for the CNS dimension of this rare lysosomal storage disorder.
FDA approves first gene therapy for severe LAD-I
The FDA approved Kresladi (marnetegragene autotemcel), the first gene therapy indicated for severe Leukocyte Adhesion Deficiency Type I, marking the first approved treatment specifically targeting the genetic root cause of this rare, life-threatening immune disorder.
NICE rare-disease modifier consultation is reshaping HTA for ultra-rare therapies
NICE's consultation on the severity modifier and the rare-disease threshold has substantive implications for ultra-rare therapy access in England. The submitted consultation responses are diverging on the question of whether the threshold should be retained, reframed or removed.
Newborn screening expansion is uneven across US states
RUSP additions tell only half the story - state-level implementation timelines stretch the diagnostic-to-treatment gap, and the variation has consequences for treatment-eligibility windows in time-sensitive rare disease.
Explained
2How orphan drug designation reshapes commercial planning across markets
Orphan drug designation is more than a marketing-exclusivity tag. It carries fee waivers, accelerated review pathways, market-exclusivity protection, and HTA-layer implications that shape commercial planning materially across markets.
How natural-history studies became regulatory currency for rare-disease approvals
In conditions where a randomized controlled trial is impractical or unethical, well-conducted natural-history studies have become the comparator of record for FDA submissions. The methodology, the patient-advocate organizations that often run these studies, and the regulator-sponsor dialogue have all matured into a recognizable framework.