Hospital Sant Joan de Déu

STXBP1-related disorders (STXBP1-RD) are rare genetic neurodevelopmental disorders, caused by pathogenic variants in the gene STXBP1. The core clinical features of the disorder are developmental delay often leading to (severe) intellectual disability and seizures in most patients, although the phenotypic spectrum is variable. Behavioral problems and movement disorders are frequent comorbidities. STXBP1-RD are severe disorders with significant impact on the quality of life of the patients and their caregivers. At the moment, there is no cure for STXBP1-RD and treatment is largely limited to symptom control. Recent advances in the field of precision medicine and gene therapy have led to the identification of potential novel disease modifying therapies for STXBP1-RD that hold promise to reach clinical trials in the coming years. However, accurate and successful evaluation of such novel precision therapies in STXBP1-RD patients is challenging, given the rarity of the condition and the variable clinical spectrum. Furthermore, relevant clinical endpoints, taking into account the patients' and caregivers' perspective have not been identified to date.
In this European collaborative study, the investigators will prospectively follow patients with STXBP1-RD during different phases of life (infantile period, childhood and adolescence/adulthood). The study aims to better understand the natural history and the phenotypic spectrum of the disease including the identification of disease modifiers. It further aims to identify relevant clinical endpoints (what to treat?) and robust outcome measures and biomarkers (how to measure?) for future clinical trials. The study is performed in close collaboration with different STXBP1 patient-caregiver communities across Europe.

The age of onset of anorexia nervosa has been progressively decreasing in recent years. Also, the prevalence rates of childhood anorexia in many countries have grown significantly. This increase was already observed before the COVID-19 pandemic, but the confinements and the stress derived from them have caused this increase to accelerate. As in adolescent and adult patients, in childhood anorexia some of the core signs and symptoms are an extreme fear of gaining weight and avoidance of food. The consequences of the early-onset of anorexia can be very important since the maturation of the organism is more incomplete in children than in adolescents. Weight loss can have very severe consequences, since in children the percentage of body fat is lower. On the other hand, hormonal disorders derived from food deprivation also have very severe consequences for the development of different organs. General physical development and growth can be affected, with consequences such as not being able to reach normal height. The research carried out to date on the efficacy of treatments for childhood anorexia is very scarce. There are no specific treatment strategies or settings for children with anorexia, and little research has been done to tailor treatment for younger patients. Given the need to explore new treatments for anorexia nervosa specifically aimed at children, the objective of this project is to develop a program to carry out exposure to one's own body through virtual reality, gradually, with progressive increases in size until achieving a healthy weight. In the virtual exposure, patients will observe the image of an avatar in a mirror for the time necessary in each session to produce the reduction of the anxiety response. The avatars that will be developed for this purpose will have a physical constitution corresponding to children under 14 years of age, and physical proportions equivalent to those of each patient. The positive results obtained with a previous version of this treatment originally developed for adolescents and adults suggest that its adaptation to children can open new ways for exploring effective treatments for childhood anorexia.

Neuroblastoma is one of the most common extracranial solid tumors in children. It originates from cells of the neural crest, and can be located at the adrenal level, or in the sympathetic chains from the neck to the pelvis. Surgery still remains a mainstay part of the treatment and this is particularly challenging when IDRF are present. Adequate surgical planning, based on images such as CT Scans, MRI and/or nuclear medicine is crucial. This project seeks to compare; surgical time, GTR percentage and complications between standard surgical planning with biplanar 2D images vs the use of virtual reality as a planning tool, through the segmentation and post-processing of medical images and the visualization of 3D models with immersive virtual reality glasses (VR). The software that will be used for the segmentation and generation of 3D images will be Materialise Mimics® Innovation Suite and the images can be viewed using the Meta Quest 2® virtual reality glasses and the Materialise Mimics Viewer® software, which sends the processed images to be seen only by the treating surgeon, without patient data.
The study design will be of the type of multicenter clinical trial, controlled and with simple randomization. All patients with a debut diagnosis of neuroblastoma in stage L1, L2 or M who have a surgical indication will be recruited. Surgical time, complications, amount of resection (GTR), surgeon's satisfaction as well as surgical anatomy comprehension will be compared. An invitation to participate will be sent to hospitals around the world.