Signals
7Achondroplasia therapy options widen past vosoritide
Vosoritide commercial maturity and follow-on CNP analogue and FGFR3-targeted programs are restructuring achondroplasia management.
Congenital adrenal hyperplasia therapy reshapes around CRF1 receptor antagonism
Crinecerfont approval, follow-on CRF1 receptor antagonist programs, and structured care infrastructure are reshaping classic congenital adrenal hyperplasia management.
Neuromyelitis optica spectrum disorder therapy class competition matures
Eculizumab, ravulizumab, satralizumab, inebilizumab, and emerging mechanism programs define a competitive NMOSD prescribing landscape.
Spinal muscular atrophy long-term outcome data reshapes treatment expectations
Multi-year outcome data across nusinersen, onasemnogene abeparvovec, and risdiplam plus emerging combination strategies are clarifying long-term SMA treatment expectations.
Hemophilia 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.
Hereditary angioedema oral options reach maturity
Oral plasma kallikrein inhibitors and emerging factor XIIa inhibitor programs are restructuring HAE prophylaxis and on-demand 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.
Snapshots
3Achondroplasia therapy reference (2026)
Reference snapshot of achondroplasia care across supportive, surgical, and disease-modifying tiers.
Phenylketonuria therapy reference (2026)
Reference snapshot of PKU therapy across newborn-screened, paediatric, and adult populations.
Spinal muscular atrophy therapy reference (2026)
Reference snapshot of SMA therapy options across newborn-screened, symptomatic infant, child, and adult populations.
Explained
4What is achondroplasia?
Plain-language primer on achondroplasia, why it is the most common skeletal dysplasia, and what the new therapy options can offer.
What is phenylketonuria?
Plain-language primer on phenylketonuria, why early diagnosis matters so much, and what the modern therapy options can offer.
What is spinal muscular atrophy?
Plain-language primer on SMA, why genetics drives the disease, and how the modern therapy options work.
What is hereditary angioedema?
Plain-language primer on hereditary angioedema, why it is different from allergy, and how modern therapy works.