Craniosynostosis

This research aims to develop and validate an artificial intelligence (AI) software to recognize fetal brain structures and distinguish between normal and abnormal brain anatomy during the second trimester ultrasound scan. The study focuses on fetal brain abnormalities, which are challenging to diagnose prenatally. AI technology may improve detection, reduce variability between operators, shorten examination time, and optimize healthcare resources. The study is conducted by multiple fetal medicine centers and targets pregnant women undergoing routine screening for fetal anomalies. The study consists of two phases: a retrospective phase and a prospective phase. In the first phase, researchers collect and analyze ultrasound images taken between 19 and 22 weeks of gestation from various centers to develop and train the AI algorithm with both normal and abnormal fetal brain images. The second phase prospectively tests the AI algorithm in real clinical settings on patients from the participating centers to validate its performance in assessing fetal brain anatomy. Participants are singleton pregnant women between 19 and 22 weeks of pregnancy who undergo ultrasound scans. Researchers will collect clinical, ultrasound, prenatal, and postnatal data, anonymize images, and store them securely for analysis. The primary outcome is validating the AI algorithm over two years. Secondary outcomes include improving reproducibility and reducing examination time within one year. The study involves continuous monitoring and assessment of ultrasound images to support routine fetal brain screening.

This research aims to study the relationship between changes in head shape and the expectations and satisfaction of parents whose infants are treated with a cranial remolding orthosis (CRO). It focuses on infants diagnosed with positional cranial deformities such as plagiocephaly or brachycephaly. The study will assess objective head shape changes before and after treatment and how these relate to parental views collected through specific questionnaires. Infants will receive a custom-made cranial remolding orthosis, designed using 3D scanning and computer modeling to fit each infant's unique head shape. The orthosis is carefully fitted and checked for comfort and skin safety. Parents will be given instructions on care, and infants will attend regular clinic visits during the treatment and follow-up period. Participants will be involved in providing cranial measurements before and after treatment and completing questionnaires about their expectations and satisfaction. Researchers will analyze changes in head shape alongside parental feedback. The study includes close clinical monitoring and aims to better understand how objective outcomes align with family experiences during CRO therapy. Participation lasts through the full treatment and follow-up timeframe.

Fibroblast Growth Factor 23 (FGF23) plays a key role in managing phosphate, calcium, and vitamin D metabolism, mainly produced by bone cells called osteocytes. Its direct effect on bone cells, especially osteoblasts that form bone, has not been clearly established. This research focuses on patients with hypophosphatemic rickets (HR), a rare genetic condition marked by excessive FGF23 levels, often leading to bone deformities and growth issues. The study aims to understand how treatments like burosumab, a new antibody therapy that blocks FGF23, and active vitamin D impact bone cell biology in these patients compared to controls. The study involves observing human osteoblast cells from patients undergoing surgery for craniosynostosis, a condition affecting skull bone development either idiopathically or due to HR. Researchers will examine the effects of burosumab and 1-25 (OH) vitamin D on these cells in the lab to understand how these treatments influence bone formation and mineralization. Two groups are involved: patients with idiopathic craniosynostosis and those with craniosynostosis linked to HR. Participants will be children aged between 4 months and 18 years who need craniosynostosis surgery. The study includes collecting osteoblast cells during surgery and analyzing their growth and differentiation. The primary measure is the number of osteoblast cells obtained after differentiation. This observational study does not involve administering treatments but rather studies cells in vitro to assess the biological effects. Participation lasts through the surgical period and laboratory analysis, with ongoing monitoring of cell behavior and treatment impact.

Researchers are studying children aged 0 to 8 years old with trigonocephaly, a condition affecting the shape of the head. This observational cohort study compares the outcomes of conservative treatment versus craniofacial surgery, focusing on clinical results, psychosocial wellbeing, stress experienced by parents, and costs. The study aims to determine whether conservative treatment is as effective as surgery while causing less burden and being more cost-effective. The study involves two groups: children treated conservatively and those who undergo craniofacial surgery, which includes procedures like strip craniectomy or fronto-orbital advancement. Measurements and evaluations are taken repeatedly at ages 0, 2, 4, 6, and 8 years to track head growth and other health aspects. Participants are assessed through various methods including head circumference measurements to monitor intracranial pressure, eye exams (fundoscopy), cognitive and behavioral tests, vision and refraction checks, forehead shape evaluations, quality of life and stress questionnaires, and decisional conflict assessments at age 8. The study also analyzes medical and parental productivity costs. Data collection will continue until 2031, with findings aimed to inform future treatment guidelines for trigonocephaly.

Researchers are evaluating the skeletal, dental, and soft tissue effects of two orthodontic treatments—Mandibular advancement aligners (Invisalign MA) and the Herbst appliance—in growing patients with Class II malocclusion. The study focuses on children aged 9 to 15 years who have a Class II skeletal malocclusion with specific dental and skeletal characteristics. The goal is to compare how each device stimulates mandibular growth and affects jaw alignment and facial structure. Participants will receive treatment with either the Invisalign MA system or the Herbst appliance. Before treatment, dental impressions and 3D optical scans will be used to create the devices. Some preparatory dental adjustments may be made, such as leveling teeth or expanding the palate when needed. Active mandibular advancement will continue until a Class I molar relationship is achieved, followed by a 2-month period without advancement to allow jaw stabilization. The study includes two CBCT scans taken before and after this phase, spaced at least one year apart, to measure changes precisely. Throughout the study, patients will undergo initial and follow-up dental assessments, including cephalometric X-rays and ultra-low dose CBCT scans. These scans help measure mandibular lengthening, jaw movement, and rotation. After the main treatment phase, orthodontic care will continue until completion, followed by retention and regular post-treatment check-ups. The total study duration per participant is at least one year plus the retention period, ensuring careful monitoring of treatment effects and jaw development.

Researchers are creating a database of healthy adult subjects aged 18 to 65 years to study brain structure and function using advanced imaging techniques. This project, part of the European Human Brain Project, focuses on healthy individuals to better understand brain activity and metabolism through a multimodal approach involving MRI, PET, and electrophysiology. The goal is to provide valuable data for scientific collaboration on epilepsy and brain health. Participants will undergo a 18F-FDG PET brain imaging exam, which measures glucose metabolism in the brain by using a small amount of radioactive tracer injected intravenously. The scan lasts about 45 minutes and captures a three-dimensional image at rest, allowing researchers to quantify brain glucose consumption and connectivity. This is a non-therapeutic study involving a single imaging procedure performed at baseline, with a follow-up measurement planned 24 months later. During the study, participants will be monitored through imaging and assessments of cerebral glucose consumption and metabolic connectivity at baseline and after 24 months. The PET scans are part of routine clinical procedures with established safety profiles, and all participants must provide informed consent. The study lasts over two years, including the initial scan and long-term follow-up, aiming to enhance understanding of healthy brain metabolism and function.

This research aims to evaluate how well caregiver repositioning strategies and the use of a custom cranial remolding orthosis help correct deformational head shapes in infants. The study includes infants diagnosed with deformational cranial shapes, some of whom also have torticollis and will receive physical therapy. A group of healthy infants without head deformities will be observed to compare typical head growth with those undergoing treatment. Infants around 2 months old with deformational head shapes will start repositioning therapy at home, and physical therapy if they have torticollis. They will be checked monthly, and if the head shape remains unresolved by 4 to 6 months, parents can choose to begin treatment with a custom helmet worn most of the day. Treatment continues until the head shape is corrected or the infant reaches 12 months. Healthy infants will be evaluated but receive no treatment. Participants will attend follow-up visits at set ages to monitor head shape and treatment progress, including a final evaluation at 12 months. Researchers will measure the head shape at 12 months as the main outcome and assess overall changes and treatment compliance. The study tracks infant growth and response to treatments over time, ensuring careful monitoring of both treated and healthy infants.

Researchers are studying adults with rare and complex genetic syndromes that affect multiple body systems and often include intellectual disability. These patients typically receive specialized care from multiple specialists during childhood, but as medical advances have extended life expectancy, many are now living into adulthood. The study aims to understand the medical needs, comorbidities, medication use, and quality of life impacts for adults with these rare syndromes, addressing a gap in adult care and guidelines. This research involves a retrospective review of medical files, including medical history, laboratory results, additional tests, and records of physical and psychological complaints. There is no active treatment or intervention, as the study collects and analyzes existing data to gain insights about health issues and medication adaptations needed for these syndromes. Participants' medical records will be analyzed to evaluate the presence of physical health problems, laboratory values, physical and psychological complaints, and medication use over a one-year period. The study uses statistical software for analysis and aims to improve understanding of adult care needs for these rare genetic conditions. The study began in October 2018 and will continue through January 2030.

Researchers are studying hemodynamic changes during corrective craniosynostosis surgery in infants aged 3 to 8 months. Craniosynostosis is a condition where the skull bones fuse too early, potentially leading to increased brain pressure and developmental delays. The study aims to better understand cardiovascular stability during surgery by comparing traditional monitoring methods with a new technology called the Pressure Recording Analytic Method (PRAM). During surgery under general anesthesia, infants are monitored using standard devices alongside the MostCare system with PRAM technology. This advanced method continuously analyzes arterial blood pressure to estimate heart function and blood flow parameters. Data are collected every few minutes throughout the surgery to capture dynamic cardiovascular changes. Parents can expect their child to undergo usual anesthesiological care including fasting and pain management. Monitoring includes pulse oximetry, cerebral oxygen levels, and optional brain function tracking. The study closely observes blood volume, vascular resistance, and cardiac performance during surgery. Safety is maintained by experienced anesthesiologists and continuous data collection. Participation covers the surgery duration, with no additional long-term follow-up mentioned.

This research aims to establish face transplantation as a safe and effective reconstructive option for individuals with severe facial injuries or defects. The study evaluates a new immunomodulatory protocol, known as the Pittsburgh or Starzl Protocol, designed to minimize the need for long-term, high-dose immunosuppression, which traditionally carries risks like infection and cancer. This Phase II clinical trial plans to perform 15 full or partial face transplants using this approach to improve patient outcomes and quality of life. The treatment involves combining face transplantation with a novel donor bone marrow cell-based therapy followed by maintenance with a single immunosuppressive drug, tacrolimus. Patients first receive T-cell depletion with alemtuzumab, then the transplant is performed, and donor bone marrow cells are infused about 10 days later. Tacrolimus is given for at least six months before a gradual reduction might be considered in stable patients. Participants will be closely monitored throughout the study, which may last up to five years after transplantation. Researchers will assess graft survival as the primary measure, along with the immunosuppression levels needed to maintain the graft. The study includes evaluations of rejection risk, functional and aesthetic outcomes, and patient adherence to the protocol, aiming to support wider clinical use of face transplantation with fewer side effects.