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. 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 studying renal cancer to identify a new molecular panel from liquid biopsies. This panel aims to distinguish renal cancer patients from healthy controls, differentiate malignant from benign kidney masses, assess the aggressiveness of renal cell carcinoma (RCC), and classify common RCC subtypes such as clear cell, papillary types 1 and 2, and chromophobe. The study combines molecular data with clinical information to improve screening, diagnosis, prognosis, and histological classification of renal cancer. The study includes two phases: a retrospective phase analyzing stored samples from patients with a first episode of renal mass and controls with urological functional diseases, and a prospective phase involving a multicenter trial. During the retrospective phase, various biological samples like plasma, urine, tumor tissue, and normal kidney tissue are analyzed using methods such as PCR, sequencing, and mass spectrometry. The prospective phase collects fresh whole blood, plasma, and urine samples from patients undergoing nephrectomy and controls, aiming to validate the biomarker panel in a larger group. Participants will provide biological samples before surgery, along with clinical data to build a comprehensive dataset. Researchers will analyze these samples to measure biomarkers related to screening, diagnosis, and prognosis of RCC. The study involves ongoing sample collection and data analysis to confirm the clinical usefulness of the biomarker panel for managing renal cancer. Participation includes providing informed consent and attending scheduled visits during the study period, which runs through June 2026.

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 imatinib's 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.

This research investigates hereditary cancer predisposition by identifying novel genes and genetic variants that may contribute to familial cancer. While hereditary factors are known to cause some cancers, many causes remain unknown. The study focuses on families with cancer clustering, aiming to better understand genetic links to improve diagnosis and care for hereditary cancer. Participants provide blood or saliva samples and medical and family history information. Leftover tumor samples may also be collected when available. Samples are stored in a biorepository and studied using next generation sequencing to detect gene changes. Some participants may provide skin samples if they had bone marrow transplants without available pre-transplant DNA. Participants may be contacted yearly for health and family history updates. During the study, researchers analyze DNA and other biological samples to find mutations linked to cancer. This includes sequencing, genetic and cellular studies, and possibly stem cell analyses. Personal information is removed, and samples remain in the repository for future research. The primary outcome is identifying new cancer predisposing genes, with follow-up of up to 20 years from study start.

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.

Rare Diseases (RD) pose a health challenge due to their complexity and low prevalence, generating a burden in terms of morbidity and mortality and costs. The fragmentation of data on these diseases makes it difficult to understand them comprehensively. Therefore, the creation of a macro institutional registry that brings together information on RD would facilitate research in this field. The registries are organized systems of systematic data collection of a large number of patients quickly and efficiently on a particular disease at a given time. The main difficulty of the registries is the guarantee of the quality of their data. The main objectives of the registry are: Understand risk factors and prognosis. Evaluate the diagnostic and therapeutic comparison with current standards. Advance knowledge of the disease to optimize the assessment, treatment and monitoring of patients. Analyze the effectiveness of new therapies. Studying differences between populations. Quickly estimate the morbidity, mortality and resource utilization associated with a disease entity. Examine the course of a disease Formulate novel hypotheses for further prospective studies.

Researchers are evaluating Ivonescimab, a PD-1/VEGF 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 Paget's 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 20mg/kg 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.