Optogenetic therapy appears safe in a small study of patients blind from advanced retinitis pigmentosa, with early efficacy signals described as promising. The findings also point to opportunities for technical refinement of the approach.
Long-term leniolisib was generally well tolerated in 37 patients with activated phosphoinositide 3-kinase delta syndrome treated for a median of 4.3 years. Annual infection rates (P = 0.0005), respiratory infection rates (P = 0.0017) and immunoglobulin replacement therapy use (P = 0.0095) all declined per year of treatment, with clinically meaningful gains in 36-Item Short Form Survey general health scores. This extends the efficacy and safety evidence for leniolisib in APDS well beyond the pivotal trials.
A 20 mg oral deucrictibant capsule gave faster onset of symptom relief than placebo in hereditary angioedema attacks, with median relief times of under one and a half hours for deucrictibant and beyond twelve hours for placebo, a statistically significant difference. In the phase 3 RAPIDe-3 crossover trial, 113 participants treated 201 attacks, and no severe, serious or treatment-related discontinuation events occurred. Deucrictibant could become the first orally administered bradykinin B2 receptor antagonist for treating attacks of bradykinin-mediated angioedema.
Why it matters: Phase 3 data show an oral capsule can relieve hereditary angioedema attacks far faster than placebo.
Single-agent axitinib produced confirmed partial responses in 35.3% of 17 treated patients with progressive metastatic or unresectable pheochromocytoma and paraganglioma, with median progression-free survival of 7.9 months and median overall survival of 29 months. Hypertension occurred in 79% of patients but was managed with antihypertensive therapy and dose modification, and no patient stopped treatment for toxicity. The phase II trial's efficacy compares favorably with sunitinib in this rare disease.
Why it matters: First prospective single-arm data on selective VEGFR inhibition with axitinib in a rare cancer with few systemic options.
A gene-edited porcine kidney (EGEN-2784) transplanted into a patient with end-stage kidney disease functioned immediately and maintained dialysis independence for 271 days before failing after immunosuppression reduction, with thrombotic microangiopathy despite negative donor-specific crossmatch. No porcine pathogen transmission or anti-HLA antibody change occurred. 82 days after nephrectomy, the patient received a human kidney allotransplant with immediate function and no sensitisation during 231 days of follow-up.
Why it matters: First living-recipient porcine kidney xenograft shows 271 days of dialysis independence and successful bridge to allotransplantation without sensitisation.
Once-daily oral infigratinib (0.25 mg per kilogram) for 52 weeks increased annualized height velocity in children with achondroplasia by 1.74 cm per year versus placebo (P<0.001), with a height z score gain of 0.32 and no change in the upper-to-lower body segment ratio. In the 114-patient phase 3 trial, adverse events occurred in 96% of infigratinib recipients and 95% of placebo recipients, with no investigator-attributed drug-related serious events. It offers an oral treatment option targeting the FGFR3 pathway underlying achondroplasia.
Why it matters: Phase 3 data show an oral FGFR inhibitor improves growth velocity in children with achondroplasia versus placebo.
124I-evuzamitide PET/CT diagnosed cardiac amyloidosis with 94% sensitivity (95% CI, 85%-98%) and 86% specificity (95% CI, 77%-92%) among 170 adults with suspected disease evaluated at 18 US centers. Positive predictive value was 85% and negative predictive value 94%. The tracer offers a noninvasive test that directly images cardiac amyloid across amyloid types, beyond the transthyretin-restricted approaches currently available.
A secondary analysis of the CARDIOTTRansform phase 3 randomized controlled trial found that eplontersen, a transthyretin-targeting antisense oligonucleotide, benefited patients with transthyretin amyloid cardiomyopathy who were not on transthyretin stabilizers at baseline, but showed no such effect in those already taking stabilizers. The result separates responders from non-responders by background therapy. Findings were presented at the 2026 ESC Congress.
Why it matters: It identifies baseline transthyretin stabilizer use as a factor determining which cardiomyopathy patients benefit from eplontersen.
Intravenous arginine did not shorten time to crisis resolution in sickle cell disease acute pain episodes in a phase 3 trial of 271 patients aged 3 to 21 across 10 US children's hospitals. Median time to crisis resolution was 60.8 hours with arginine vs 65.8 hours with placebo (absolute difference, 7.2 hours; 95% CI, -21.6 to 35.9 hours), and the trial was halted early for futility. Opioid use, pain scores, patient-reported outcomes, and safety events did not differ, overturning positive earlier phase 2 findings.
Why it matters: Phase 3 futility result reverses promising phase 2 evidence for arginine in sickle cell pain crises.
Intravenous deramiocel, a heart-derived cellular therapy, slowed disease progression in advanced Duchenne muscular dystrophy in the phase 3 HOPE-3 trial. Among 106 participants aged 10 years or older, total Performance of the Upper Limb 2.0 percentage change at 12 months significantly favoured deramiocel over placebo, with a safety profile similar to placebo. Quarterly outpatient infusions preserved skeletal muscle function regardless of the underlying genetic lesion.
Why it matters: Phase 3 evidence that a quarterly outpatient cell infusion slows upper limb function loss in advanced DMD.
Serial amnioinfusions with isotonic fluid, started before 26 weeks' gestation for anhydramnios due to fetal kidney failure without bilateral renal agenesis, led to neonatal survival of 14 days or longer with dialysis access placement in 19 of 29 live-born neonates (65.5%). Fourteen infants (48%) survived to hospital discharge, and 7 of 11 current survivors have received kidney transplants between ages 2 and 5 years. The findings extend evidence for the intervention beyond bilateral renal agenesis to other causes of fetal kidney failure.
Daily zinc sulfate at 20 mg reduced all-cause infections in Ugandan children aged 1.00 to 4.99 years with sickle cell anemia. Over 6 months, the zinc group had 305.7 infections per 100 person-years versus 480.7 with placebo, an adjusted incidence rate ratio of 0.62 (95% CI, 0.45-0.86), with no adverse events requiring discontinuation. The finding adds a simple, safe preventive option for a high-morbidity outcome in this population.
Why it matters: A placebo-controlled trial showing a common supplement cuts infections in young children with sickle cell anemia.