Signals
4Spinal 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.
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.
UK newborn screening expansion proposal would change the rare-disease patient-finding model
The UK National Screening Committee's proposed expansion of the newborn blood-spot screening panel to additional rare conditions has implications for diagnosis timing, treatment-eligible patient identification, and commercial planning for orphan therapies in those conditions.
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.
Snapshots
3Phenylketonuria 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.
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.