Signals
7Hemophilia gene therapy real-world data starts to clarify durability
Approved factor VIII and factor IX gene therapy products are accumulating real-world durability data that defines the addressable-population reality.
FDA 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.
Sickle cell disease curative therapy uptake exposes the conditioning-regimen access gap
Approved curative therapies for sickle cell disease (lentiviral gene therapy and CRISPR-edited autologous stem-cell therapy) are facing real-world uptake constrained by the conditioning regimen requirements and the specialist-centre infrastructure for autologous cell therapy.
Friedreich's ataxia real-world treatment uptake reveals the access-versus-efficacy gap
Real-world uptake of the first approved disease-modifying therapy for Friedreich's ataxia has been slower and more uneven than the pivotal trial population would have predicted. The drivers are infrastructure, payer behaviour, and patient-specialist matching, not the underlying clinical evidence.
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.