Neurocutaneous Syndrome

Researchers are evaluating a new 10-minute cardiovascular magnetic resonance (CMR) imaging protocol designed to improve current CMR procedures for patients with various heart conditions, including coronary artery disease, cardiomyopathies, and other cardiac diseases. The study aims to develop a standardized, contrast-free imaging method that can be applied to about 70% of cardiac patients. The goal is to assess whether this shorter protocol enhances diagnostic decision-making and reduces healthcare costs. The study involves two groups: healthy volunteers over 18 years old without significant cardiovascular or respiratory conditions, and patients over 18 years who require a clinically indicated CMR exam. The new protocol focuses on heart function and tissue characterization without using contrast agents. Researchers will compare the new 10-minute protocol to standard CMR imaging, evaluating its clinical feasibility, performance, and cost-effectiveness in different patient populations. Participants will undergo CMR scans using both the new and standard protocols. Researchers will monitor diagnostic results, scan completion rates, scan sequence times, adverse events, and cost differences between methods. Various heart tissue measurements and reproducibility between different readers and scanners will also be assessed. The study spans from 2019 to 2025, with ongoing safety monitoring during imaging sequences and a focus on improving the efficiency and quality of cardiac imaging.

Researchers are conducting the GENESIS clinical study to map the HLA genomic region in the Greek population and explore its possible links with various underlying diseases. This non-interventional, multicenter study aims to provide a pilot map of genetic variation in HLA that may be useful in medical research and clinical applications related to selected diseases. The study plans to include 12,000 participants over a total duration of 36 months. Each participant will attend one visit at a participating site during which they will provide demographic data, lifestyle information such as smoking and alcohol use, blood pressure measurements, details on diagnosed diseases and treatments, and recent laboratory test results if available. Buccal swab samples will be collected from each participant to extract DNA for HLA genotyping analysis. Selected samples will undergo further whole genome sequencing to investigate associations with autoimmune diseases. Participants will receive a personalized ancestry report after analysis completion. During the study visit, data collection includes demographic and health information, as well as laboratory and clinical test results from the past year. The genetic material from buccal swabs will be stored and processed for genetic analysis. Researchers will measure allele frequency of HLA alleles in the Greek population and assess the prevalence and risk associations of selected HLA-related diseases. The study's total duration is 36 months with results available at the end of this period.

Researchers are evaluating two different educational letter interventions to improve the rate of recommended health screenings for people with Neurofibromatosis 1 (NF1) who do not usually attend specialized NF clinics. The study focuses on both adults with NF1 and parents or guardians of children with NF1 across the U.S. The goal is to find out which approach better supports patients during their annual wellness visits with primary care providers by promoting evidence-based care. Participants will be randomly assigned to receive one of two types of letters about NF1 care, one addressed to themselves and one to their primary care clinician. These letters provide information about NF1 care recommendations to be reviewed before the participant's upcoming annual wellness visit. After this visit, participants will complete a follow-up online survey, and a small group may take part in virtual interviews to share their experiences. The study is fully decentralized and does not require any visits to Massachusetts General Hospital. Participants will complete online surveys before and after their wellness visit to assess the impact of the interventions. The main outcome measured is whether participants received the recommended NF1 health screenings within two weeks after their primary care visit. Secondary measures include patient activation and satisfaction with care. Throughout the study, all interactions and data collection are done remotely, and participation continues until after the follow-up survey is completed.

Researchers are developing a multicenter registry to collect and share data on pediatric patients who have undergone deep brain stimulation (DBS) for movement disorders such as dystonia, epilepsy, Tourette syndrome, and mood disorders. The study aims to improve understanding of DBS safety and effectiveness in children, as current data are limited and individual centers often have too few cases for strong research. This registry will support large-scale analyses and help refine DBS as a treatment option for hyperkinetic movement disorders in the pediatric population. The study involves gathering both retrospective and prospective clinical data from multiple pediatric centers. The registry will collect information on surgical techniques, patient outcomes, implant sites, and long-term effects of DBS. This collaborative data-sharing approach enables comprehensive evaluation of which patients benefit most from DBS and how it impacts their quality of life over time. Participants include children aged 0 to 18 years who have already received or are scheduled to receive DBS for neurological movement disorders. Data will be collected over five years to monitor safety, efficacy, and quality of life outcomes. The study does not involve treatment administration but focuses on gathering and analyzing clinical information. Parental or legal guardian consent is required for prospective participation.

This research aims to evaluate postoperative respiratory complications (PORC) in children with obstructive sleep apnea (OSA) who undergo (adeno)tonsillectomy. It combines data from two centers: University Hospital Antwerp and Heim Pal National Pediatric Institute in Hungary. The study examines how common these complications are and whether they vary according to different health conditions such as obesity, craniofacial malformations, Down syndrome, or neurological disorders that affect airway muscle tone. Data come from a retrospective analysis of electronic health records originally collected in two prospective studies. These records include children who had (adeno)tonsillectomy for OSA, with postoperative care following a set protocol. The study looks at factors like the obstructive apnea-hypopnea index, oxygen levels during sleep studies, age at surgery, and presence of other health conditions to understand their relationship with PORC and to help develop a management plan. Participants' information was collected without needing additional consent because it uses existing anonymized data. Researchers assess the prevalence of PORC within 24 hours after surgery and analyze how different factors affect this risk. This study does not involve new treatments but reviews existing data to improve postoperative care. The study includes children aged 1 to 18 years who had (adeno)tonsillectomy for OSA, with follow-up limited to the immediate postoperative period.

Researchers are evaluating HLX-1502 in an open-label, single-arm phase 2 study focused on people aged 16 and older with Neurofibromatosis Type 1 (NF1) who have progressive or symptomatic plexiform neurofibromas (PN). The study also includes a smaller group of participants aged 12 to 15 to investigate safety and effects in this younger group. The goal is to assess how well participants tolerate HLX-1502 and how it affects their condition. Participants will take an oral dose of HLX-1502 three times daily, with or without food, in 28-day cycles. The initial treatment period includes 12 cycles. Those showing partial response, stable disease after prior progression, or clinical improvement may continue treatment for an additional 12 cycles, totaling 24 cycles. This approach aims to explore both short-term and extended treatment effects. During the study, participants will have measurable PNs evaluated by volumetric MRI to monitor tumor response. Researchers will assess the PN response rate at 12 and 24 months, safety, tolerability, pharmacokinetics, and duration and time to response. Participants will be monitored regularly for organ function, performance status, and overall health, with study visits and procedures conducted throughout the treatment period and follow-up. The total study duration varies according to treatment response and continuation criteria.

Researchers are evaluating the safety and effectiveness of combining trametinib and azacitidine in children and young adults newly diagnosed with juvenile myelomonocytic leukemia (JMML). This study focuses on two groups: lower-risk patients and high-risk patients, defined by specific genetic and molecular features. The trial aims to determine how well these drug combinations work and their safety in treating JMML. Lower-risk patients will receive daily azacitidine for five days combined with daily trametinib for 28 days per treatment cycle, for up to twelve cycles. High-risk patients will receive a combination of azacitidine, fludarabine, and cytarabine for five days along with daily trametinib for 28 days per cycle, for up to two cycles. These treatments are given through oral and intravenous methods, depending on the drug, and are tailored to the patient's risk category. Participants will undergo evaluations to monitor safety and treatment effects during and after each treatment cycle. Assessments include blood tests, genetic studies, kidney, liver, and heart function checks, and monitoring for side effects. The study will measure safety outcomes at the end of the first treatment cycle plus 30 days. Patients are followed throughout treatment courses lasting up to twelve cycles for lower-risk or two cycles for high-risk JMML, with ongoing monitoring to ensure their well-being.

Researchers are investigating epilepsy-dyskinesia syndromes, which are rare genetic diseases causing both movement disorders and epilepsy in children. This multinational retrospective survey, supported by the International Parkinson and Movement Disorder Society, aims to collect detailed clinical and molecular data to better understand these conditions. The study focuses on identifying patterns in disease features, progression, and genetic links to improve knowledge and support precision medicine. The study collects previously recorded data from multiple countries, harmonizing information on clinical features, disease progression, age of onset, genetic variants, and coexisting neurological conditions. By standardizing this data, the survey addresses challenges in rare disease research like small, dispersed patient groups and inconsistent protocols. The goal is to build a shared clinical database and analyze how movement and seizure disorders relate at both clinical and molecular levels. Participants are children aged 0 to 18 years with diagnosed movement disorders linked to specific genetic variants. The study reviews existing medical records and genetic information without new treatments or interventions. Researchers will assess the disease spectrum, how movement disorders affect quality of life, and the effectiveness of symptomatic treatments over one year. The study encourages international collaboration to advance understanding and improve care for these rare conditions.

Researchers are evaluating whether using a digital smartphone application can help adults with chronic kidney disease (CKD) better follow the 2024 Kidney Disease: Improving Global Outcomes (KDIGO) guidelines. The study focuses especially on young adults transitioning from pediatric to adult nephrology care, who face higher risks and challenges during this vulnerable period. The research aims to improve treatment adherence and health outcomes by addressing gaps in current care and guideline implementation. Participants will use a modified version of the St. James's Hospital Renal App, which has been adapted to align with the KDIGO 2024 guidelines. The app provides tailored recommendations, reminders, educational materials, and collects patient-reported outcomes. The study uses a randomized stepped wedge design where patients receive first exposure and later continued use of the app. The intervention supports healthcare providers by highlighting opportunities for evidence-based therapies and helps patients manage their care digitally. During the study, participants will be monitored for changes in adherence to KDIGO guidelines over 18 months. Assessments will include patient engagement, clinical data integration via electronic health records, and patient-reported measures. The app also supports appointment management and medication reminders, aiming to enhance self-management and slow CKD progression. The research includes diverse patient subgroups and considers cultural and linguistic needs to promote equitable care.

Researchers are evaluating the safety of avutometinib as a treatment for children and young adults aged 3 to 30 years with advanced or recurrent solid tumor cancers, including pediatric tumors with specific genetic alterations affecting the MAP kinase pathway and certain neurofibromatosis conditions. This phase 1 study aims to find the highest dose of avutometinib that is safe and causes few or mild side effects. Participants receive oral avutometinib twice a week, once daily, in cycles of three weeks on treatment followed by one week off, with each cycle lasting 28 days. The study uses a dose-escalation design, starting at Dose Level 1 and adjusting the dose based on the number of dose-limiting toxicities (DLTs) observed, to identify the maximum tolerated dose (MTD). During the study, participants will be closely monitored for safety over up to 12 months. Researchers will assess side effects and tolerability, and participants will undergo regular evaluations including clinical assessments and laboratory tests. The study carefully tracks adverse events and adjusts dosing to ensure participant safety throughout the trial.