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Drug development in pediatric rare diseases is complicated by practical and ethical constraints on clinical trial design, stemming from small, highly heterogeneous, and vulnerable patient populations. Virtual patients (VPs) created with machine-learning (ML), mechanistically driven computational approaches, or hybrids thereof, have the potential to expedite and maximize the impact of trials. We discuss the potential of VPs to transform the efficiency and impact of clinical trials in pediatric rare diseases, based on adult and pediatric examples.
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http://dx.doi.org/10.1002/psp4.70096 | DOI Listing |
J Pathol Transl Med
September 2025
Department of Pathology, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Hwasun, Korea.
Central nervous system tumors with BCL6 corepressor (BCOR) internal tandem duplications (ITDs) constitute a rare, recently characterized pediatric neoplasm with distinct molecular and histopathological features. To date, 69 cases have been documented in the literature, including our institutional case. These neoplasms predominantly occur in young children, with the cerebellum representing the most frequent anatomical location.
View Article and Find Full Text PDFHum Genome Var
September 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients. We also identified a patient with a likely pathogenic variant in SOX9 and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of DXH37 variants.
View Article and Find Full Text PDFAnn Rheum Dis
September 2025
Department of Pediatrics, Division of Rheumatology, University of Michigan, Ann Arbor, MI, USA.
Objectives: Juvenile dermatomyositis (JDM) is a heterogeneous autoimmune condition needing targeted treatment approaches and improved understanding of molecular mechanisms driving clinical phenotypes. We utilised exploratory proteomics from a longitudinal North American cohort of patients with new-onset JDM to identify biological pathways at disease onset and follow-up, tissue-specific disease activity, and myositis-specific autoantibody (MSA) status.
Methods: We measured 3072 plasma proteins (Olink panel) in 56 patients with JDM within 12 weeks of starting treatment (from the Childhood Arthritis and Rheumatology Research Alliance Registry and 3 additional sites) and 8 paediatric controls.
Neurochirurgie
September 2025
Department of Pediatric Orthopedic Surgery, Regional University Hospital Center of Tours, France; Regional Epidemiology Unit Centre-Val de Loire, Regional University Hospital Center of Tours, France; Reference Center for Rare Diseases, Chiari and Vertebral and Spinal Cord Malformations (C-MAVEM) of
Objective: Epidemiological data on rare spinal cord malformations in children are lacking in France. Using the national hospital discharge database (PMSI), we studied the care trajectories and estimated the morbidity and mortality burden of these conditions.
Study Design: We conducted a nationwide historical cohort study from 2010 to 2020, including children diagnosed with rare spinal cord diseases within the scope of the C-MAVEM network.
Neurochirurgie
September 2025
Division of Paediatrics, Department of Neurosurgery, Faculty of Medicine Universitas Indonesia, Cipto Mangunkusumo General Hospital, Jakarta, Indonesia.
Introduction: Craniopagus is one of the rarest congenital abnormalities. Separation of craniopagus twin is associated with high morbidity and mortality, especially in total type, where the twin had shared dural venous sinuses. One of the complications after separation surgery is hydrocephalus.
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