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Showing 1-20 of 23 trials
NCT06308445
The hypothesize of this research is that rapamycin is effective and well-tolerated in teenagers with familial adenomatous polyposis (FAP). Rapamycin could be effective in blocking the formation of adenomas and/or their evolution by decreasing their size and number. Researchers aim to assess the safety profile of rapamycin in FAP adolescents using a 2 low dose regimen.
NCT06641310
The purpose of this phase 1a/b trial is to find out what amount of exercise would be best to use for preventing recurrence of colorectal polyps. It involves following one of four different amounts of exercise regimens on a treadmill for 26 weeks. A treadmill will be placed in each study participant's home for the duration of the study. The exercise regimen will be personalized for each participant and monitored remotely by exercise personnel. The in-person study visits occur during the usual standard of care endoscopy exam and during a follow-up exam that is 26 weeks later. Small rectal tissue biopsies, about the size of a grain of rice, will be taken before and after 26 weeks of exercise. The study visits also involve questionnaires, a stool sample, and a blood sample. This study will inform the design of larger, future trials to investigate whether or not recurrence of polyps can be achieved with exercise.
NCT03050268
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing. While it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition. The purpose of this protocol is to identify novel cancer predisposing genes and/or genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer. PRIMARY OBJECTIVE: * Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members. SECONDARY OBJECTIVE: * Identify novel cancer predisposing genes and/or genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.
NCT06950385
The main goal of this clinical trial is to learn if the drug eRapa works to slow down the progression of disease in patients diagnosed with Familial Adenomatous Polyposis (FAP). Researchers will compare eRapa to Placebo. The questions to be answered by this trial are: * Does taking eRapa help to slow down the progression of the disease in patients with FAP? * Is eRapa a safe treatment for patients diagnosed with FAP? * What is the effect of eRapa on the number of polyps found in GI tract of patients diagnosed with FAP? * How does treatment with eRapa affect a patient's quality of life? Participants will: * Take eRapa or placebo once per day every other week until disease progresses (gets worse), stops taking part in the trial or dies. * Visit the clinic once every 3 months for check ups and tests. * Have an endoscopy at the start of the trial and then every 6 months to check on whether the disease is getting better or worse.
NCT07461246
RIPAF (Rete Italiana Poliposi Adenomatosa Familiare) is a national, multicenter observational registry designed to establish a coordinated Italian network for the management of Familial Adenomatous Polyposis (FAP) and related adenomatous polyposis syndromes. The registry includes patients with APC-related FAP (classic and attenuated forms), MUTYH-associated polyposis (MAP), and adenomatous polyposis not associated with APC or MUTYH mutations (NAMP), including cases linked to other susceptibility genes or without identified pathogenic variants. The study combines retrospective and prospective data collection across 28 Italian centers. Its primary purpose is to generate standardized, large-scale clinical data to better characterize disease presentation and evolution, evaluate current surveillance and surgical strategies, and assess oncological outcomes and quality-of-care indicators in real-world practice. The registry will collect detailed information on genotype-phenotype correlations, colorectal and upper gastrointestinal cancer incidence, desmoid tumor development, timing and type of prophylactic surgery, postoperative outcomes, and long-term survival. Additional objectives include evaluating adherence to surveillance guidelines, timing of genetic diagnosis, and preventive surgical uptake among at-risk relatives. By harmonizing data collection and promoting collaboration among referral centers, RIPAF aims to reduce variability in clinical management across Italy, improve risk stratification and decision-making, and create a national platform to support future multicenter research initiatives and international collaborations in hereditary colorectal cancer syndromes.
NCT06578637
The aim of this study is to evaluate the potential of BHB supplementation as a novel strategy to impede the development and progression of intestinal adenomas in individuals with FAP, thus potentially reducing the need for frequent upper endoscopies and colonoscopies and preventing the need for risk-reducing surgical intervention.
NCT06538402
The aim of this randomized controlled trial is to compare outcome after construction of an ileal (J-shaped) reservoir of 10 versus 15 centimeters in primary ileal pouch-anal anastomosis surgery.
NCT03471403
The purpose of this study is to collect prospective observational data regarding patients with diagnosed Familial Adenomatous Polyposis (FAP) undergoing cold snare polypectomy for duodenal adenomas
NCT03847636
This multicenter prospective non-randomized interventional study (clinical trial) that will assess the safety and efficacy of cryoballoon ablation treatment using the C2 Cryoballoon device (Pentax Medical Corporation) as an alternative primary treatment modality for sporadic and familial nonampullary nonpolypoid (flat) duodenal adenomas.
NCT06614738
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder linked to a mutation in the APC gene, associated with the development of multiple colonic and duodenal adenomas, which in 100% of cases progress to colorectal cancer (CRC) if left untreated. Management of affected patients is usually based on prophylactic total colectomy with or without rectal preservation, followed by regular endoscopic surveillance of the duodenum and rectum or ileal reservoir. However, there is considerable inter- and intra-familial variability in the rate of adenoma appearance and development for identical mutations. This strongly suggests the additional role of environmental factors. Recently, the gut microbiota has been identified as a co-factor of carcinogenesis in patients with FAP, but no prospective evaluation of the association between the incidence and severity of adenomatous proliferations and a microbiological signature has been studied, particularly at duodenal level in operated patient.
NCT05402891
Rationale: Familial adenomatous polyposis (FAP) syndrome is characterized by the development of numerous colorectal polyps. If left untreated, these patients have a chance of nearly 100% of developing colorectal cancer (CRC) at a young age. Therefore, guidelines recommend a prophylactic colectomy during early adulthood. Even after colectomy, most patients will develop adenomas in the retained rectum or ileoanal pouch requiring further endoscopic surveillance. In a recent study in mouse models, a chemopreventive effect of Lithium was observed on the spread of Apc mutated cells within the crypts of normal intestinal mucosa, suggesting polyp formation can be prevented. Lithium is used to treat patients with bipolar disorders but has never been investigated in patients with FAP aiming to reduce polyp burden. We hypothesize that Lithium could reduce the spread of APC mutated cells within the crypt of normal intestinal mucosa potentially reducing polyp burden in patients with FAP. Objective: The aim of this study is to investigate the effect of low-dose Lithium on stem cell dynamics, the number and size of polyps and, to assess safety outcomes of this drug in FAP patients. Study design: A prospective phase II, single arm pilot trial, with a duration of 18 months. The drug will be administered between month 6 and 12. Study population: Twelve patients with FAP between the age of 18 and 35 not having undergone a colectomy (yet), having a genetically confirmed APC mutation and a family history with a classical FAP phenotype. Intervention: All patients will be treated with Lithium with an oral dose of 300mg a day for six months, achieving a therapeutic serum level between 0.2-0.4 mmol/L. Main study parameters/endpoints: The main outcome parameter is the effect of Lithium on the spread of APC mutant cells within intestinal crypts over time by using an APC specific marker NOTUM (a significance reduce of fixed crypts and reduction of fixed clone size of 50%). Nature and extent of the burden and risks associated with participation, benefit and group relatedness: A physical examination and an endoscopy with biopsies will be performed at baseline and every six months (four in total). Laboratory testing will be done at baseline and every two months during Lithium treatment. Patients will be interviewed by phone and Lithium side effect questionnaires will be obtained at baseline and during Lithium treatment. Lithium serum levels will be measured at day 12 and 22 after start of the study drug (at month 6). When the therapeutic range has been achieved, serum level testing will be done every month. Most relevant side-effects that could potential occur include polyuria, hyperparathyroidism and hypothyroidism. Most side effects are dose-dependent and will be regularly monitored. Patients with FAP could potentially benefit from a chemopreventive therapy such as Lithium to postpone or even avoid invasive types of surgery.
NCT00151476
This is a registry-based observational study assessing clinical outcomes in FAP patients receiving celecoxib compared with historical/concurrent registry patients who have not received celecoxib. Both retrospective and prospective data will be utilized. No sampling methods apply.
NCT03806426
2 Year randomised, double-blind, placebo-controlled, parallel group study to determine the safety and efficacy of EPA-FFA gastro resistant capsules in FAP.
NCT02961374
This phase II trial studies the side effects of erlotinib hydrochloride and how well it works in reducing duodenal polyp burden in patients with familial adenomatous polyposis at risk of developing colon cancer. Erlotinib hydrochloride may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth.
NCT04674228
This study reviews post study clinical endoscopy reports in follow up to patients who participated in MAY2016-07-01 with weekly erlotinib for familial adenomatous polyposis. Reviewing follow up medical records may help researchers examine the extent of rapid progression of familiar adenomatous polyposis disease burden after discontinuation of weekly erlotinib.
NCT01483144
The purpose of this randomized, double-blind, Phase III trial is to determine if the combination of eflornithine plus sulindac is superior to sulindac or eflornithine as single agents in delaying time to the first occurrence of any FAP-related event. This includes: 1) FAP related disease progression indicating the need for excisional intervention involving the colon, rectum, pouch, duodenum and/or 2) clinically important events which includes progression to more advanced duodenal polyposis, cancer or death.
NCT04531930
The current internationally accepted treatment method for familial adenomatous polyposis is prophylactic total colorectal resection combined with endoscopic follow-up. However, total colorectal resection will bring a sharp decline in the quality of life of patients. Therefore, how to improve treatment methods and improve the quality of life for such patients under the premise of medical quality is the current medical focus. This study intends to establish three parallel observation cohorts, namely the surgical treatment group, the intensive colonoscopy treatment group, and the autonomous monitoring group. During the three-year study period, the investigators observed changes in the number of adenomas, carcinogenesis, and medical expenses in each group during the 3-year study period, and compared the groups to determine whether the intensive colonoscopy therapy has the possibility of delaying or replacing preventive surgery.
NCT02198092
This is an observational, case-control study evaluating the quantitative level of Septin9 in plasma pre- and post-colectomy in hereditary colorectal cancer (CRC) syndrome patients (Familial Adenomatous Polyposis (FAP), Lynch syndrome (also known as HNPCC), and Multiple Adenomatous Polyposis (MAP, also known as MYK/MYH) cases) and genetically related FAP-family members as controls and references.
NCT02656134
Background and study aim The relative risks of duodenal adenocarcinoma and ampullary carcinoma in Familial Adenomatous Polyposis (FAP) have been estimated 100 to 330 times higher than in general population. However risk factors, including a genotype-phenotype association for duodenal cancer in FAP has not been fully understood. The aim of this study is to determine risk factors associated with the development of advanced duodenal polyposis and ampullary adenomas in colectomized patients with FAP.
NCT01245816
The purpose of this phase III study is to evaluate the safety and efficacy of the combination of eflornithine and sulindac compared to single agent sulindac or eflornithine in reducing the number of polyps in patients with familial adenomatous polyposis (FAP).