Signals
15Osteogenesis imperfecta therapy reshapes around anti-sclerostin programs
Setrusumab pivotal data, bisphosphonate maturity, and emerging gene therapy programs are reshaping osteogenesis imperfecta management.
Achondroplasia 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.
Phenylketonuria therapy options mature past low-phenylalanine diet
Pegvaliase commercial maturity, sapropterin use, and emerging gene therapy programs are restructuring phenylketonuria 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.
Cell therapy moves into non-malignant rare disease
Cell-therapy approaches are beginning to land in non-malignant rare-disease indications including severe lupus, scleroderma, and inherited metabolic conditions.
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.
ASO platform diversification beyond DMD is reshaping rare-disease commercial planning
The antisense oligonucleotide (ASO) platform has moved beyond the DMD foundation into multiple rare-disease indications including SMA, AdLD, Stargardt disease and adjacent conditions. The platform-level commercial logic is reshaping rare-disease portfolio strategy at multiple sponsors.
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.
AAV gene-therapy manufacturing capacity remains the rate-limit on commercial uptake
The AAV gene-therapy class continues to face manufacturing-capacity constraints that limit commercial scale, particularly for high-dose indications. Investment in capacity is happening, but the lead times are long and the implications for commercial uptake are persisting longer than the field expected.
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
7Achondroplasia 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.
Hereditary angioedema therapy reference (2026)
Reference snapshot of HAE prophylaxis and on-demand therapy options.
Antisense oligonucleotide platform landscape (2026 reference)
Reference snapshot of approved ASO therapies, late-stage programs, and the delivery and chemistry platforms behind them.
Rare disease enzyme replacement therapy landscape, 2026 mid-year reference
Reference layout of the enzyme replacement therapy class in rare disease as of mid-2026: approved assets across lysosomal storage disease, the next-generation engineered-enzyme programs, the gene therapy alternatives, and the live commercial questions including chronic-infusion burden and CNS access.
Approved gene therapies by indication, 2026 mid-year reference
Reference layout of approved in vivo and ex vivo gene therapies as of mid-2026: indications, mechanism, delivery vector or platform, regulatory pathway, and the live commercial questions for each.
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.