Clinical trials

The Swisskera project is a multicenter follow-up study at the three Swiss burn centers evaluating long-term outcomes after burn wound coverage with lab-grown epithelial grafts, specifically cultured epithelial autograft (CEA) and, where applicable, cultured dermal-epidermal autograft (CDEA). Patients who received CEA/CDEA between 1985 and 2023 will be invited for a study visit , using available clinical records and standardized long-term scar and skin assessments. Long-term skin quality will be evaluated by comparing the previously transplanted area with a matched healthy skin reference site using non-invasive measurements (e.g., thickness, transepidermal water loss, hydration, elasticity, and color). Optional small punch biopsies may be obtained from transplanted areas (under local anesthesia or during clinically indicated anesthesia) for histological and immunohistochemical characterization of scar tissue remodeling, including collagen and elastin architecture, vascularization, nerve fiber ingrowth, inflammatory cell patterns, and melanocyte distribution.

Individuals with suspected primary immunodeficiency will be studied and the results compared with healthy controls. Primary immunodeficiency may manifest as recurrent, severe or unusual infections as well as signs and symptoms of immune dysregulation such as autoimmunity or lymphoproliferation.

The aim of this study is to investigate whether short-arm fiberglass cast (SAC) immobilization provides fracture stabilization comparable to that of long-arm cast (LAC) treatment of displaced and non-displaced distal Salter Harris I/II forearm fractures in paediatric patients.

The purpose of this study is to evaluate which operative technique should be used for managing simple ovarian cysts in girls and adolescents. The two techniques that are being compared are laparoscopic cyst enucleation and laparoscopic cyst deroofing. The investigators will assess the effect of both techniques on the ovarian reserve and the risk of cyst recurrence.

The investigators propose a single center, prospective observational study in children with Lyme disease (LD), the Borrelia B-cell diagnostics (BRILLIANT) study, to assess the immune response against Borrelia burgdorferi (Bb) with the following main objectives: 1. Development of Bb-specific ASC ELISpot as a new test method for diagnosis of early LD. There is an urgent unmet clinical need for a better diagnostic tool for early LD, as the current standard two-tier testing has low sensitivity in recently infected patients and may show false positive results in recovered patients due to long-term persistence of antibodies against Bb. The measurement of Bb-specific ASC with the ELISpot assay my has the potential to overcome these issues and to improve diagnosis in early LD. 2. Extensive analysis of the immune response in LD. The immune response in LD is not well understood. Large-scale studies assessing the detailed immune cell subsets/phenotypes present in blood, CSF, or synovial fluid of LD patients with respective manifestations are lacking. 3. Isolation and characterization of causative Bb species. Existing literature suggests that Bb genospecies and/or genotypes may determine virulence and manifestations, but large-scale studies assessing Bb genospecies/genotypes in different manifestation of LD are lacking. 4. Collection of clinical data about symptoms, severity, routine laboratory and diagnostic test results, treatment, and outcome of LD. 5. Biobanking samples for analysis in the future. Project population Inclusion criteria: Children, 0-17 years of age, at University Children's Hospital Zurich: * LD differential diagnosis cohort: Patients presenting at the ED with differential diagnosis of LD according to the treating physician. * Control cohort: Previously healthy patients (HC) with routine blood investigations presenting at the ED or PID outpatient department Exclusion criteria: Primary or secondary immunodeficiency.

The goal of this observational study is to compare a novel dermal substitute to a the current standard procedure in the treatment of full thickness skin defects. The main questions aim to answer are: • Is the skin elasticity treated with the novel dermal substitute better than the skin elasticity treated with the current standard procedure Participants skin elasticity will be measured by Cutometer® MPA-580 assessment.

Congenital melanocytic nevi (CMN) are a quite common congenital disorder. Over years, surgical excision was proposed to the patients because transformation into a malignant skin tumor (melanoma) was feared. Recent data proof that the risk for malignancy was overestimated. Nowadays still a lot of patients express their wish for surgical removal out of aesthetic reasons and psychological impacts. Many patients and families experience stigmatization because of the nevus. To proof a medical indication for surgical removal the investigators want to evaluate the quality of life and stigmatization before and after nevus surgery.

The goal of this observational study is to learn about the level of change in post-traumatic stress symptoms in adolescents with traumatic experiences over the course of trauma-focused cognitive behavioral therapy for children and adolescents according to Cohen, Manarinno, \& Deblinger (2017).

Population-based and clinical studies indicate that a substantial proportion of children and adolescents are exposed to one or more potentially traumatic events (PTEs) Approximately 16 % of those affected by childhood trauma go on to develop post-traumatic stress disorder (PTSD), with an even higher proportion experiencing subclinical levels of post-traumatic stress symptoms (PTSS). In Switzerland, over half of adolescents report exposure to at least one PTE, with 4.2 % meeting diagnostic criteria for PTSD. PTSD frequently impacts young people's social and educational functioning, often impairing their ability to engage in everyday life activities that are important or meaningful to them. Although the psychological consequences of PTSD are well documented, there is limited empirical understanding of how PTSS specifically affects day-to-day functioning in young people. A key reason for this gap is the absence of a validated instrument specifically designed to assess PTSD-related functional impairment in children and adolescents. To address this need, the PTSD-iMPairment in Adolescent \& Children's Capacity for Thriving (PTSD-iMPACT) measure was developed. This tool aims to systematically assess the extent of PTSD-related functional impairment in children and adolescents across key life domains, such as family, friends, school, apprenticeship, hobbies or media use. The overall aim of this study is to evaluate the psychometric properties of the PTSD-iMPACT questionnaire in a clinical and in a non-clinical sample and to provide an internationally applicable standard instrument for the assessment of PTSD-related functional impairment in trauma-exposed children and adolescents. In the long term, the aim is to ensure that the care and support provided to children and adolescents who experience difficulties in their daily lives due to post-traumatic stress symptoms are sustainably monitored and improved.

Urea cycle disorders (UCDs) are dramatic congenital inherited metabolic disorders. There is no cure. Many novel therapeutic approaches are currently being developed, which hopefully will change the current situation. Testing the efficacy of such new therapies in patients is a challenge, because many clinical parameters are influenced by several disturbances and biochemical parameters are often not very specific. The measurement of ureagenesis is a tool to analyze the entire function of the urea cycle in a single test. This is more meaningful for the characterization of UCD patients than the analysis of single metabolites or enzymes. Therefore, the test will be important to evaluate current and future novel therapies. The term "ureagenesis" means "production of urea", which is the main task of the urea cycle. This total urea production can be measured with a "tracer" (in this case a stable ammonium chloride isotope). This tracer is non-radioactive and non-toxic. It is for example used as an unmarked substance in cough syrup, diuretic drugs and as food additive. Thus, the tracer does not pose a risk to the participant, especially since only a very low dose is applied. The investigators will analyze specific substances from the urea cycle (namely \[15N, 14N\] urea and several \[15N\] amino acids) that are produced during the test and compare them with results from healthy people. Venous and capillary blood will be sampled at 15 to 30 minutes intervals up to 2 hours after administration of the stable isotope tracer. The maximum test duration is 5 hours. This project is being carried out at one site, namely the University Children's Hospital in Zurich. This project is being carried out under Swiss law. The responsible Ethics Committee has reviewed and approved the study.

Patients, parents of young / handicapped patients, and experts will be interviewed to collect contents relevant for HrQoL in CBS deficiency. Based on these data, a questionnaire will be developed and tested for comprehensibility in patients and parents of young / handicapped patients. A final questionnaire version will be tested for psychometric criteria including validity and reliability.

Treatment of PKU implies for most patients that with strict adherence to dietary treatment they can achieve excellent neurocognitive outcome. Dietary treatment, though, is hard to comply to every day and with every single meal. Unsurprisingly, health-related quality of life (HrQol) is negatively affected if patients have to follow a dietary regime of this kind. Adherence to treatment in PKU is very variable. Factors of significant impact on adherence to treatment and well-being in chronic disease such as self-efficacy or parenting stress have not yet been widely investigated in PKU patients. The ideal treatment prescription (and guideline) recommends as much as necessary and as little as possible, based on the best evidence available. Patients should neither be deprived of treatment options nor be exposed to overtreatment. This study investigates adherence, metabolic control, HrQol in PKU patients treated by centres which follow different guidelines

The goal of this study is to find out if using the BougieCap device is a safe and effective way to stretch narrow areas in the esophagus (food pipe) in children. The main questions this study wants to answer are: * Does the BougieCap work well to treat narrow areas in the esophagus comparing with other methods to widen these narrow areas? * Is BougieCap easy to use and does it cause fewer problems or discomfort for children? Researchers will compare two groups: one using the BougieCap, and the other using traditional methods like balloon dilation, to see which one works better and is safer. Participants will: * Answer questions about their symptoms before treatment, 24 hours after, and 14 days later. * Complete these questions during regular hospital visits or over the phone for the final check-up. This study does not involve any extra risks or burdens for the participants.

The prevalence of a traumatic brain injury (TBI) in children and adolescents is around 30% with 70-90% being classified as mild (concussion). Because the brain of a child is still developing, a TBI can have devastating effects and possibly creates lifetime challenges. Sleep seems to play an important role in the post-concussion recovery process. Auditory stimulation during sleep has been shown to reliably boost slow waves, a solid marker for the depth of sleep, and can thus be used to deepen sleep. This study aims to investigate the effects of sleep enhancement via auditory stimulation on recovery after a concussion in children and adolescents in their home. Therefore, half of the patients receive one week of auditory stimulation during deep sleep at their home using a mobile device. The other half follows the same study protocol, but no tones are administered (sham). Cognitive tests as well as symptom questionnaires are used to assess the recovery process. It is hypothesized that the patients in the intervention group will recover better than the ones who haven't received the intervention. Additionally, a group of children and adolescents who never sustained a concussion is included as a control.

This study is a prospective, non-randomized feasibility study of drug response profiling (DRP) in pediatric blood cancers. Primary cancer cells are isolated from patients and screened ex vivo at single-cell resolution using automated fluorescence microscopy. Drug sensitivity fingerprints are integrated with genetic annotations to inform the treating physician about personalized treatment options. The study aims to determine the practicability of real-time drug response profiling and its actionability in identifying patient-specific cancer dependencies in refractory disease settings.

Main aims of this project are * To assess the baseline status-quo of transition and "fitness for transfer" in terms of information about the adult centre and team, organisational and practical skills (blood sampling and sending, how to make an appointment etc.), disease- and treatment-related knowledge, health-related quality of life (HrQoL), and self-efficacy in adolescnets with inborn errors of metabolism. Biochemical or physical parameters as appropriate for the respective diseases from 12 months before are documented. * To provide targeted, structured intervention modules (using available and, if necessary, adapted materials). * To measure the effects of these interventions on information about adult services short-term (within a month) and to re-assess all other baseline status-quo parameters long-term (6 and 12 months later). Psychological assessments will be complemented by biochemical or physical parameters as appropriate for the respective diseases and indicative for transition success.

The goal of this clinical trial is to learn more about intestinal regional oxygen saturation measurements made with near-infrared spectroscopy and bladder pressure measurements in infants without risk of intraabdominal hypertension. The main question it aims to answer is if - in comparison to bladder pressure - the regional intestinal oxygen saturation measured with near-infrared spectroscopy is stable in the muscle-relaxed, intubated patients and the awake and non-sedated patient. In case of participation the bladder pressure and the regional intestinal oxygen saturation (measured with near-infrared spectroscopy) will each be measured once intraoperatively and once postoperatively. Patients included in this study will be undergoing an operation which necessitates muscle-relaxation, as well as an indwelling urinary catheter during the operation and for a short-time thereafter for other reasons than this study.

Introduction: Congenital heart disease (CHD) is the most frequent birth defect. As survival has significantly improved, attention has turned to neurodevelopmental outcomes of children undergoing heart surgery in early infancy. Since multiple risk factors contribute to neurodevelopmental alterations, a nationwide registry collecting data on medical characteristics, interventions, clinical course and neurodevelopment until school-age is needed to improve the quality of management, identify risk- and protective factors affecting neurodevelopment, and facilitate multicenter trials. Methods and analysis: The Swiss Outcome Registry for CHIldren with severe congenital heart Disease (ORCHID) is a nationwide, prospective, population-based patient registry developed (1) to collect baseline characteristics and clinical data of CHD patients operated with bypass-surgery or hybrid procedures in the first 6 weeks of life in Switzerland, (2) to monitor long-term neurodevelopment, and (3) to relate clinical characteristics and neurodevelopment to identify risk and protective factors in these children. This registry started data collection relating to pregnancy, birth, preoperative course, catheter-based and surgical treatment, postoperative course and reinterventions in 2019. The primary outcome includes standardised neurodevelopmental assessments at 9 to 12 months, 18 to 24 months and 5.5 to 6 years. Investigators expect to include 80 to 100 children per year. Correlation and regression analyses will be used to investigate risk- and protective factors influencing neurodevelopment. Ethics and dissemination of results: Swiss ORCHID received support by the Accentus Charitable Foundation, the Anna Mueller Grocholoski Foundation, the Swiss Society of Pediatric Cardiology, and the Corelina - Foundation and was approved by the cantonal ethics committees. Findings will be presented at national and international scientific meetings, and published in peer-reviewed journals. Results will also be shared with patient organizations, primary health care providers, and public health stakeholders to ensure a widespread dissemination of the results.

In the context of a clinical trial, the investigators will evaluate if parent-infant interaction can be improved by a family integrated, individualised, interactive resource- and needs-oriented music therapy approach in the dyads of infants with congenital heart disease and their parents. This intervention will be compared with the standard of care. Infants allocated to the control group will receive standard care during admission. Standard care includes involvement of a multi-professional team consisting of medical and nursing team, psychologists/psychiatrists, social workers, breastfeeding counsellor, speech therapist, nutritional counsellor and physiotherapists.