steroid injections for arthropathy tendinopathy and myopathy in the pediatric population a systematic review

Original title: “Steroid Injections for Arthropathy, Tendinopathy and Myopathy in the Pediatric Population: A Systematic Review.”

accurate and cost effective workflow integrating trio pooled wes for novel gene discovery in neurodevelopmental disorders

Original title: “Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.”

non pterygium escobar syndrome from compound heterozygous chrng variants genotype phenotype insights

Original title: “Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.”

assessment of insulin resistance indexes with longitudinal trajectories of cardiometabolic multimorbidity insights from the uk biobank

Original title: “Assessment of insulin resistance indexes with longitudinal trajectories of cardiometabolic multimorbidity: insights from the UK Biobank.”

perioperative ischemic optic neuropathy a comprehensive review of anesthetic implications hemodynamic pathophysiology and risk stratification

Original title: “Perioperative ischemic optic neuropathy: a comprehensive review of anesthetic implications, hemodynamic pathophysiology, and risk stratification.”

rare but instructive pediatric onset spinocerebellar ataxia type 2 and its clinical and genetic insights

Original title: “Rare but Instructive: Pediatric-Onset Spinocerebellar Ataxia Type 2 and Its Clinical and Genetic Insights.”

43 year old man with isolated cutaneous lymphomatoid granulomatosis presenting as a chronic necrotizing ulcer of the upper arm

Original title: “A 43-Year-Old Man With Isolated Cutaneous Lymphomatoid Granulomatosis Presenting as a Chronic Necrotizing Ulcer of the Upper Arm.”

hydroxychloroquine use in pediatric iga nephropathy

Original title: “Hydroxychloroquine use in pediatric IgA nephropathy.”

cross cultural adaptation of the italian version of the child and youth mental health instrument for developmental disabilities i chymh dd

Original title: “Cross-cultural adaptation of the Italian version of the "Child and Youth Mental Health Instrument for Developmental Disabilities" (I-ChYMH-DD).”

attention deficit hyperactivity disorder in pediatric cancer survivors risk and medication use in a nationwide population based study

Original title: “Attention-deficit/hyperactivity disorder in pediatric cancer survivors: risk and medication use in a nationwide population-based study.”

artificial intelligence powered tiered early warning framework addressing high false alarm rates for in hospital mortality prediction

Original title: “Artificial Intelligence-powered tiered early warning framework addressing high false alarm rates for in-hospital mortality prediction.”

organizing pneumonia potentially caused by infliximab in a pediatric patient with ulcerative colitis

Original title: “Organizing pneumonia potentially caused by infliximab in a pediatric patient with ulcerative colitis.”

bullous systemic lupus erythematosus in a southeast asian cohort high systemic association driving systemic therapy

Original title: “Bullous Systemic Lupus Erythematosus in a Southeast Asian Cohort: High Systemic Association Driving Systemic Therapy.”

relationships between lung ultrasound chest ct and echocardiographic findings in children with bronchopulmonary dysplasia a multimodal imaging study

Original title: “Relationships between lung ultrasound, chest CT, and echocardiographic findings in children with bronchopulmonary dysplasia: A multimodal imaging study.”

testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts

Original title: “Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.”

splice variant of uromodulin protects against acute kidney injury

Original title: “Splice Variant of Uromodulin Protects Against Acute Kidney Injury.”

neurological immune related adverse events of immune checkpoint inhibitors an updated review

Original title: “Neurological immune-related adverse events of immune-checkpoint inhibitors: an updated review.”

guillain barr syndrome in pregnancy a systematic review of published case reports and case series with obstetric and neonatal outcomes

Original title: “Guillain-Barré Syndrome in Pregnancy: A Systematic Review of Published Case Reports and Case Series with Obstetric and Neonatal Outcomes.”

bardet biedl syndrome in two sibling pairs a case series

Original title: “Bardet-Biedl syndrome in two sibling pairs: a case series.”

In Vivo Gene Therapy commanded the largest share at 42.5% in 2025, translating to approximately $5.1 billion in revenue, driven by the widespread adoption of AAV-based vectors for direct patient administration across neurological, hepatic, ocular, and musculoskeletal rare diseases. In vivo approaches are preferred for conditions where target cells are difficult to remove and return, such as CNS disorders ... In Vivo Gene Therapy commanded the largest share at 42.5% in 2025, translating to approximately $5.1 billion in revenue, driven by the widespread adoption of AAV-based vectors for direct patient administration across neurological, hepatic, ocular, and musculoskeletal rare diseases. In vivo approaches are preferred for conditions where target cells are difficult to remove and return, such as CNS disorders and dystrophinopathies, and the continued refinement of AAV serotypes for diverse tissue tropisms is sustaining this segment's leadership. The CNS delivery challenge — historically a significant technical barrier — is being addressed through novel AAV capsids with enhanced brain penetration, intrathecal delivery methods, and MRI-guided focused ultrasound techniques for blood-brain barrier opening, all of which are meaningfully expanding the addressable neurological rare disease opportunity. Hematological Disorders represented the second-largest disease area with 28.7% market share in 2025, driven by the commercial maturity and clinical efficacy demonstrated in hemophilia A and B, beta-thalassemia, and sickle cell disease — the latter benefiting from both gene therapy and gene editing approaches. The most commonly targeted rare diseases in the gene therapy market include spinal muscular atrophy (SMA, addressed by Zolgensma), hemophilia A and B, Duchenne muscular dystrophy (DMD, addressed by Elevidys), sickle cell disease and beta-thalassemia (addressed by Casgevy and Zynteglo), RPE65-associated retinal dystrophy (addressed by Luxturna), and various lysosomal storage disorders. CRISPR technology has become a transformational force in the rare disease gene therapy market, with the 2023-2024 approval of Casgevy marking the world's first CRISPR-based medicine for sickle cell disease and beta-thalassemia. The CRISPR gene therapy sub-segment is projected to grow at 24.8% CAGR through 2034 and could address 15-20 distinct rare diseases by 2030. Next-generation CRISPR variants including base editors and prime editors are entering clinical trials for conditions such as progeria, phenylketonuria, and various forms of inherited blindness.

Original title: “Gene Therapy Rare Disease Market Research Report 2034”