Accepts Healthy Volunteers
Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms
An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.
An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.
Searching Both is inclusive of interventional and observational studies.
|Observational [Patient Registry]|
|Eligible Ages||N/A and Over|
This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.
Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.
Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.
Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.
Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.
The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.
|InCor Heart Institute|
The person who is responsible for the scientific and technical direction of the entire clinical study.
|Carlos Roberto Ribeiro Carvalho, MD, PhD|
|Principal Investigator Affiliation||InCor Heart Institute|
Category of organization(s) involved as sponsor (and collaborator) supporting the trial.
The disease, disorder, syndrome, illness, or injury that is being studied.
|Tuberous Sclerosis, Lymphangioleiomyomatosis, Angiomyolipoma|
1. Introduction Tuberous Sclerosis Complex (TSC) is a multisystemic autosomal dominant disease , that is characterized by the development of histologically benign neoplasms in brain, kidney, lung, skin, heart and eyes, as well as by central nervous system (CNS) disorganization. TSC is caused by mutations in TSC1 (Tuberous Sclerosis Complex 1) and/or TSC2 genes, which encode, respectively, hamartin and tuberin, proteins that form a complex involved in the regulation of cell proliferation, cell cycle and protein synthesis. Although the majority of organs are susceptible, most patients exhibit dermatological, renal, neurological and pulmonary manifestations. Involvement of the CNS responds for most of TSC morbidity and include subependymal nodules, subependymal giant cell astrocytomas (SEGA) and cortical tubers, alterations prone to lead to ventricular obstruction, hydrocephalus, epilepsy, intellectual disability and psychiatric problems. Lymphangioleiomyomatosis (LAM) is a rare disease that is characterized by the proliferation of LAM cells around the airways, blood vessels and lymphatics, which can result in vascular and airway obstruction and cyst formation. LAM occurs sporadically or in association with tuberous sclerosis complex. The main clinical features are dyspnea, pneumothorax and chylothorax. The most frequent TSC manifestation in the kidney is the development of angiomyolipomas (AML), a tumor derived from perivascular epithelioid cells that comprises abnormally organized blood vessels, smooth muscle cells and adipose tissue. AML affects 60-80% of TSC patients, but it also occurs sporadically. The main AML-related complication is renal hemorrhage, the most common cause of mortality in adults with TSC. Dermatologic lesions represent the most common manifestations of TSC, mainly hypomelanotic macules and facial angiofibromas. The most significant functional implication of the tuberin-hamartin complex is its regulatory role upon the mammalian target of rapamycin (mTOR) pathway. Mutations in TSC1 or TSC2 lead to increased mTOR activity and favor tumor development and growth. Interestingly, all lesions associated with TSC, sporadic LAM and sporadic AML share a common molecular pathogenesis, based on TSC1/TSC2 mutations and mTOR hyperactivity. A number of studies have shown potentially beneficial effects of mTOR inhibitors on LAM and TSC patients with SEGA and AML, including sirolimus and everolimus. Such positive effects, however, are heterogeneous among these manifestations and critical pieces of information are lacking to define the true roles of mTOR inhibitors on each of TSC manifestations, as well as the sporadic forms of LAM and AML. 2. Study rational The University of São Paulo Medical School is the main and largest medical complex in Latin America. Up to date, TSC patients have been followed in separated medical services in our institution, according to their predominant phenotype. The current knowledge and therapeutic perspectives, however, suggest that from this moment on the ideal follow up of such patients should be conducted in an integrated fashion among the specialties associated with the main disease manifestations, ie, neurology, pulmonary, nephrology, urology and dermatology. Experts in TSC from each of these areas have recently come together to create a TSC/LAM/AML integrated program in the University of São Paulo Medical School, with the aim of building a Brazilian TSC Reference Center. This center is expected to provide integrated clinical follow up of TSC patients. We also expect to bring this center to a reference status for the entire country. This project will be initiated with the generation of an integrated TSC/LAM/AML registry, including all TSC and LAM cases and selected AML patients according to potential severity. This database is planned to be fed and accessed by all physicians included in the current proposal. Such this registry intends not only to clinically characterize this patient population but also to document the employed treatment modalities. Once this first goal is achieved, strategic and well-designed clinical studies are planned to be performed, including clinical trials with mTOR inhibitors. 3. Objectives 3.1. Primary objective The central aim of this observational study is to clinically characterize all patients with TSC, LAM and AML followed and referred to the University of São Paulo Medical School. 3.2. Secondary objectives.
: Tuberous sclerosis complex
All patients with TSC, LAM or AML followed at Hospital das Clínicas, University of São Paulo Medical School will be included in the proposed study. Patients of all ages will participate in the study.
If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.