Tuberous Sclerosis

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. Jamess 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.

Infantile spasms are sudden, brief epileptic seizures characterized by rapid, repeated body contractions in flexion or extension, sometimes with eye movements. This condition is serious because delayed diagnosis and treatment can lead to cognitive decline. Diagnosing infantile spasms typically requires video-EEG, but this method is costly and not always accessible. To improve early detection, researchers are developing an automated system that analyzes simple smartphone or webcam videos using computer vision and learning models to identify spasms. The study aims to train this automated system by using a database of videos linked with electrophysiological data from pediatric neurophysiology labs. These videos have confirmed spasms based on expert analysis and video-EEG. The goal is for the system to reach over 95% sensitivity and specificity, allowing it to be used by healthcare professionals and families for early seizure detection and monitoring. This approach could facilitate faster referral and treatment, especially where access to specialized diagnostic tools is limited. Participants in this observational study include children up to 3 years old who have undergone video-EEG and have recorded spasms or other epilepsy types. Researchers will analyze existing video and EEG data to teach the system to distinguish spasms from other seizures. The primary outcome is achieving automated detection accuracy above 95% for spasms within two years. The study uses retrospective data from multiple hospitals and plans to publish results in a peer-reviewed journal.

Multiple sclerosis MS is a chronic autoimmune disease affecting the central nervous system, causing a wide range of symptoms including fatigue, which is experienced by 80% of patients. This research aims to evaluate the effects of individualized home-based training, guided by a mobile app, on reducing fatigue in patients with newly and advanced diagnosed MS. The study addresses the need for better exercise therapy personalization, home practice, and early initiation to improve patient outcomes. Participants will be assigned to one of four groups based on their diagnosis stage and exercise type newly diagnosed or advanced MS patients doing either traditional aerobic and resistance exercises at home or individualized exercises guided by a mobile app tailored to their specific disabilities. The individualized program targets muscle strength and cardiorespiratory conditioning. Training is conducted at home, with the mobile app providing guidance for the experimental groups. Throughout the study, participants will be monitored using various assessments including the Fatigue Severity Scale at week 15, muscle biopsies, muscle enzymatic activity, VO2max, strength measurements, balance tests, and questionnaires on quality of life, sleep quality, anxiety, and depression. Data collection occurs up to week 17, with the aim to measure fatigue reduction and physical improvements. The study also tracks safety and adherence over this period, ensuring a comprehensive evaluation of the exercise programs.

Lymphangioleiomyomatosis LAM is a rare lung disease that behaves like a slow-growing cancer caused by unregulated activity of the mTOR pathway. Researchers are studying the long-term safety and tolerability of imatinib mesylate, a drug approved for leukemia that may induce death of LAM cells. This Phase 1 trial follows a previous short-term pilot study and aims to provide more information on imatinibs effects in patients with LAM. Participants will be randomly assigned to receive either imatinib mesylate or a placebo over a six-month period. Imatinib is taken orally at a dose of 400 mg twice daily. The trial includes five office visits and check-up phone calls every two weeks to monitor participants. The study is designed as a double-blinded, placebo-controlled trial to compare safety and tolerability between the two groups. During the study, participants will undergo assessments including lung function tests such as Forced Vital Capacity FVC and Forced Expiratory Volume in One Second FEV1, as well as measurement of the biomarker VEGF-D. Quality of life will be evaluated using the St. George Respiratory Questionnaire. The main outcome measured is the incidence of adverse events over one year. Participants will be monitored regularly for safety and adherence throughout the trial duration.

Researchers are studying familial cancer in children and their families to discover new genetic causes. This observational study focuses on families with a history of cancer to identify novel cancer-predisposing genes and genetic variants. The study aims to expand understanding of hereditary cancer predisposition by using next generation sequencing NGS technologies and establishing a linked data registry and biological sample repository. Participants provide blood samples, saliva, skin samples when needed, and occasionally leftover tumor or bone marrow samples. These biological specimens are stored in a biorepository and analyzed to detect gene changes potentially responsible for familial cancer. Participants may also be asked yearly for updated health and family history information if they agree to future contact. During the study, researchers collect medical and family histories along with biological samples to perform DNA sequencing and other genetic analyses. Samples are coded to protect identity and stored for current and future research. The primary outcome is identifying new cancer-related genes over up to 20 years. Participation involves sample collection and periodic updates, with ongoing confidentiality and long-term monitoring.

Neuroendocrine neoplasms NENs are a diverse group of tumors that arise from hormone-producing cells and can develop in various organs. Their behavior ranges from benign to aggressive, sometimes causing serious health problems due to excess hormone production. Many NENs are inherited or part of genetic syndromes, while others arise from non-inherited genetic changes. This research aims to identify genetic defects causing NENs in a large group of Mexican patients, improving understanding of their molecular causes and potential treatment targets. This study collects blood and tissue samples from adult patients with different types of NENs at two hospitals in Mexico City. Participants undergo genetic testing using three methods targeted gene sequencing, analysis of gene copy number changes, and full exome sequencing in selected cases. The study also gathers detailed clinical, laboratory, imaging, and pathology information, and offers genetic screening to family members when appropriate. Samples and data are carefully stored and analyzed to detect genetic variants associated with NENs. Participants provide blood and, when possible, tumor tissue samples for DNA analysis. Researchers collect clinical and family history data, along with laboratory and imaging results. The main outcome is identifying genetic defects linked to NENs over a follow-up period of up to 15 years. Participants who want to know their genetic results receive detailed reports. The study seeks to correlate genetic findings with clinical features and outcomes, aiming to discover new genetic associations and improve future diagnosis and treatment strategies.

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 conducting an observational study to create a comprehensive registry system that collects data on various rare diseases RD. The goal is to group different rare diseases together to better understand their clinical features, diagnosis, treatments, and patient outcomes. This registry aims to support research by improving knowledge about risk factors, disease progression, and resource use related to rare diseases. The study focuses on gathering data from patients with clinical or molecular diagnoses of specific rare diseases such as Amyloidosis, Sarcoidosis, Phacomatosis, and many others. Data is collected systematically from electronic medical records and patient reports to describe disease occurrence, diagnosis patterns, treatment modalities, and responses. The registry also plans to develop an alert system to identify possible rare disease cases from medical records. Participants are observed over time with data collected on survival rates, mortality, treatment timelines, clinical characteristics, and adverse events related to treatment. Researchers assess outcomes up to five years after enrollment, including time to first treatment and treatment responses. Patient-reported outcomes and demographic profiles are also recorded to understand the impact of rare diseases. The study spans multiple years, aiming to enhance disease knowledge and support future research and patient care improvements.

Researchers are evaluating Ivonescimab, a PD-1VEGF bispecific antibody, for the treatment of multiple advanced rare tumors. This phase II, multi-cohort, and multi-center study includes 20 different tumor types such as Pagets disease of the scrotum, metastatic paraganglioma, sarcomas, renal carcinomas, prostate cancer, and tumors with brain metastases. The study aims to assess if Ivonescimab improves the objective response rate and prolongs survival, as well as to monitor safety and quality of life during treatment. Participants receive Ivonescimab at a dose of 20mgkg given by intravenous infusion every 21 days. Treatment continues until disease progression, unacceptable toxicity, or for a maximum of two years. Imaging evaluations are conducted every 9 weeks during the first year and every 12 weeks afterward. Dose delays up to 12 weeks are allowed under specific conditions, but dose reductions are not permitted. Participants undergo a screening period within 28 days before starting treatment. Safety follow-up visits occur 30 days after the last dose, including physical exams and lab tests. Afterward, survival follow-up is done every 3 months for up to one year through visits or phone calls. Researchers track tumor response, progression-free survival, overall survival, quality of life, and record any adverse events throughout the study.

Focal cortical dysplasia FCD is a brain development malformation and a common cause of drug-resistant epilepsy, often linked to mutations in mTOR pathway genes. Researchers are studying tissue removed during epilepsy surgery from patients with FCD to detect these mutations. The study aims to discover new causes of epilepsy by identifying genetic changes and developing improved diagnostic and screening tools. The study involves genetic screening of DNA samples taken from blood, nasal swabs, and brain tissue of patients with confirmed or suspected FCDIIAB who undergo or have undergone epilepsy surgery. Researchers will also use single cell RNA sequencing to profile gene expression in brain cells and analyze mTOR pathway components as potential biomarkers. Additionally, the study plans to explore the feasibility of future trials involving mTOR inhibitor treatments. Participants will provide samples of blood and nasal swabs for genetic testing. Researchers will perform detailed analyses including single cell expression profiling and protein studies on the surgical brain tissue. The main outcomes measured over two years include detection of somatic mosaicism, single cell gene expression patterns, and phosphorylated mTOR pathway targets. The study is designed to improve understanding of FCD and support the development of new diagnostics and treatments.