Experiences, impact, and enablers of involving young people and family caregivers in developing reporting guidelines for paediatric randomised trials: a case study.

Background: Patient and public involvement (PPI) is increasingly recognized as important, yet no guidance exists on integrating young people and family caregiver perspectives in the development of research reporting guidelines. We developed two paediatric-specific extensions with young people (ages 10-24 years) and family caregivers (YPFC) for the Standard Protocol Items: Recommendations for Interventional Trials (SPIRIT) and Consolidated Standards of Reporting Trials (CONSORT) reporting guidelines: SPIRIT-Children and Adolescents 2025 (SPIRIT-C) and CONSORT-Children and Adolescents 2025 (CONSORT-C). This case study describes how we involved YPFC in the development of SPIRIT-C and CONSORT-C and identified enablers of impactful PPI.

Clinical Features in VEXAS syndrome: a systematic review.

Objective: To systematically characterise the complete phenotypic spectrum of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome through comprehensive analysis of all published cases since its discovery in 2020.

Methods: We conducted a systematic review following PRISMA guidelines across five databases. Studies reporting genetically confirmed VEXAS cases were included.

Adherence to delayed-release cysteamine in nephropathic cystinosis over time: data from the prospective CrYSTobs cohort study.

Background: Adherence to cysteamine in nephropathic cystinosis (NC) remains challenging. A better adherence with delayed-release (DR) compared to immediate-release (IR) cysteamine at 1 year was previously shown. This study aimed to evaluate adherence to DR cysteamine at 2 years.

Long-term outcome of oesophageal atresia in adolescence (TransEAsome): a national French cohort study protocol.

Introduction: The project, funded by the Agence Nationale de la Recherche, aims to evaluate the long-term outcomes of patients with oesophageal atresia (OA) between 13 and 14 years old and establish multiomics profiles using data from the world's biggest OA registry.

Methods And Analysis: is a national multicentre population-based cohort study recruiting participants from all qualified French centres for OA surgery at birth. The primary objective is to assess the prevalence of gastro-oesophageal reflux disease in adolescence among patients with OA, with several secondary objectives including the identification of risk factors and multiomic profiles from oesophageal biopsies and blood samples collected between 13 and 14 years old, compared with a control group.

Phosphatidylserine enriched with polyunsaturated n-3 fatty acid supplementation for attention-deficit hyperactivity disorder in children and adolescents with epilepsy: A randomized placebo-controlled trial.

Background: Attention-deficit hyperactivity disorder (ADHD) is a frequent comorbidity in children with epilepsy, which management mostly relies on the usual treatments of ADHD, especially methylphenidate. Supplementation with polyunsaturated n-3 Fatty Acid (PUFA) has been proposed as an alternative therapeutic approach in ADHD without epilepsy but has never been evaluated in epilepsy-associated ADHD.

Methods: A multicenter double blind randomized placebo-controlled trial evaluating supplementation with PUFA, in eicosapentaenoic- and docosahexaenoic-acid form, conjugated to a phospholipid vector (PS-Omega3) in children aged >6 and <16-years old, and suffering from any type of epilepsy and ADHD (inattentive or combined type) according to DSM-V.

Optimizing expert and patient input in pediatric trial design: Lessons learned and recommendations from a collaboration between conect4children and European Patient-CEntric ClinicAl TRial PLatforms.

Advice from multiple stakeholders is required to design the optimal pediatric clinical trial. We present recommendations for acquiring advice from trial experts and patients/caregivers, derived from advice meetings that were performed through a collaboration of the Collaborative Network for European Clinical Trials for Children (c4c) and the European Patient-CEntric ClinicAl TRial PLatforms (EU-PEARL). Three advice meetings were performed: (1) an advice meeting for clinical and methodology experts, (2) an advice meeting for patients/caregivers, and (3) a combined meeting with both experts and patients/caregivers.

Paediatric drug development and evaluation: Existing challenges and recommendations.

Despite various international regulatory initiatives over the last 20 years, many challenges remain in the field of paediatric drug development and evaluation. Indeed, drug research and development is still focused essentially on adult indications, thereby excluding many paediatric patients, limiting the feasibility of trials and favouring competing developments. Off-label prescribing persists and the development of age-appropriate dosage forms for children remains limited.

Early detection of ureteropelvic junction obstruction in neonates with prenatal diagnosis of renal pelvis dilatation using H NMR urinary metabolomics.

Renal pelvis dilatation (RPD) is diagnosed in utero on prenatal ultrasonography (US) and can resolve spontaneously. However, isolated RPD can also reflect ureteropelvic junction obstruction (UPJO), which requires surgical treatment to prevent progressive renal deterioration. The diagnosis of UPJO can only be confirmed after birth with repeat US and renal isotope studies.

Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs.

Introduction: In nephropathic cystinosis (NC), adherence to cysteamine remains challenging; poor adherence is worsening the disease progression with a decline of kidney function and increase of extrarenal morbidities. Our objective was to describe adherence to cysteamine in NC patients, using electronic monitoring systems.

Methods: Patients with confirmed NC, aged > 4 years and receiving oral cysteamine (short acting or delayed release formulation as standard of care) from 3 French reference centers, were included.

Developing Consensus-Based Outcome Domains for Trials in Children and Adolescents With CKD: An International Delphi Survey.

Rationale & Objective: The inconsistency in outcomes reported and lack of patient-reported outcomes across trials in children with chronic kidney disease (CKD) limits shared decision making. As part of the Standardized Outcomes in Nephrology (SONG)-Kids initiative, we aimed to generate a consensus-based prioritized list of critically important outcomes to be reported in all trials in children with CKD.

Study Design: An online 2-round Delphi survey in English, French, and Hindi languages.

Inhibition of Osteoclast Differentiation by 1.25-D and the Calcimimetic KP2326 Reveals 1.25-D Resistance in Advanced CKD.

Active vitamin D analogs and calcimimetics are the main therapies used for treating secondary hyperparathyroidism (SHPT) in patients with chronic kidney disease (CKD). Peripheral blood mononuclear cells of 19 pediatric patients with CKD1-5D and 6 healthy donors (HD) were differentiated into mature osteoclasts with receptor activator of NF-κB ligand (RANKL) and macrophage colony-stimulating factor (M-CSF). The effects of single or combined treatment with active vitamin D (1.

Preoperative Topical Estrogen Treatment vs Placebo in 244 Children With Midshaft and Posterior Hypospadias.

Purpose: Urethral fistula and dehiscence are common after hypospadias surgery. Preoperative androgens have been considered to reduce these complications although this consideration is not evidence-based. Dermatologists have reported the benefits of topical estrogens on skin healing.

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.

Patients with chronic kidney disease (CKD) display significant mineral and bone disorders (CKD-MBD) that induce significant cardiovascular, growth and bone comorbidities. Nephropathic cystinosis is an inherited metabolic disorder caused by the lysosomal accumulation of cystine due to mutations in the gene encoding cystinosin, and leads to end-stage renal disease within the second decade. The cornerstone of management relies on cysteamine therapy to decrease lysosomal cystine accumulation in target organs.

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Rare diseases usually concern small and disseminated population. Implementing clinical research with the right design, outcomes measures and the recruitment of patients are challenges. Collaborations, training and multidisciplinary approach are often required.

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.

Background: Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16. Other symptoms occur later and encompass endocrinopathies, distal myopathy and deterioration of the central nervous system.

Role of Patients and Parents in Pediatric Drug Development.

Patient engagement in health care has been an emerging priority in the global effort and move toward the consideration of patients as experts of their own conditions. However, the input of pediatric patients and their families have not been consistently requested nor regarded as valuable when deriving protocols for, as well as assessing the outcomes of, pediatric clinical trials. Extending this mutual collaboration further upstream is important, especially in the area of pediatric drug development where the lack of formalized trials for children and adolescents result in the increased use of off-label prescribing and risk of adverse effects.

Pharmacokinetic evaluation of vigabatrin dose for the treatment of refractory focal seizures in children using adult and pediatric data.

Vigabatrin is indicated as adjunctive therapy for refractory focal seizures. For children, European recommendations indicate maintenance doses varying from 30 to 100 mg/kg/day for this indication. Since cumulated dose was associated with retinal toxicity, it is essential to administrate the lowest effective dose to patients.

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The constant development of health technologies, combined with the increase in the cost of treatment, means that States must continually make choices about the introduction of new technologies into their healthcare system and how they are to be funded. In France, the systematic participation of patients in these processes is one of the targets to be met in terms of healthcare democracy. Although, on an international level, patient involvement in these assessments is constantly growing, it is difficult to define due to the presence of unstabilised elements in terms of both terminology and assessment methods.

Involving children and young people in clinical research through the forum of a European Young Persons' Advisory Group: needs and challenges.

Children and young people are seen as fundamental to the design and delivery of clinical research as active and reflective participants. In Europe, involvement of children and young people in clinical research is promoted extensively in order to engage young people in research as partners and to give them a voice to raise their own issues or opinions and for their involvement in planning and decision making in addition to learning research skills. Children and young people can be trained in clinical research through participation in young person advisory groups (YPAGs).

Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment.

Background: Bone impairment appears to be a novel complication of nephropathic cystinosis despite cysteamine therapy. Its exact underlying pathophysiology is nevertheless unclear. The objective of this study was to evaluate bone status among patients included in the French Crystobs study.

Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction.

Background: Bone impairment is a poorly described complication of nephropathic cystinosis (NC). The objectives of this study were to evaluate in vitro effects of cystinosin (CTNS) mutations on bone resorption and of cysteamine treatment on bone cells [namely human osteoclasts (OCs) and murine osteoblasts].

Methods: Human OCs were differentiated from peripheral blood mononuclear cells (PBMCs) of patients and healthy donors (HDs).

Evolution of Newborns' Urinary Metabolomic Profiles According to Age and Growth.

Improving the management of neonatal diseases and prevention of chronic diseases in adulthood requires a better comprehension of the complex maturational processes associated with newborns' development. Urine-based metabolomic studies play a promising role in the fields of pediatrics and neonatology, relying on simple and noninvasive collection procedures while integrating a variety of factors such as genotype, nutritional state, lifestyle, and diseases. Here, we investigate the influence of age, weight, height, and gender on the urine metabolome during the first 4 months of life.

Associations between food consumption patterns and saliva composition: Specificities of eating difficulties children.

Identifying objective markers of diet would be beneficial to research fields such as nutritional epidemiology. As a preliminary study on the validity of using saliva for this purpose, and in order to explore the relationship between saliva and diet, we focused on clearly contrasted groups of children: children with eating difficulties (ED) receiving at least 50% of their energy intake through artificial nutrition vs healthy controls (C). Saliva of ED and C children was analyzed by various methods (targeted biochemical analyses, 2-D electrophoresis coupled to MS, H NMR) and their diet was characterized using food frequency questionnaires, considering 148 food items grouped into 13 categories.