Clinical trials: Cowden Syndrome
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Familial Ovarian Cancer, Familial Breast Cancer
Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer
Individuals and families with known or suspected syndromes that include breast, ovarian or genetically-related cancers are enrolled in this family study, which is a syndrome-specific sub-set of the long-standing DCEG Human…
- Conditions
- Familial Ovarian Cancer, Familial Breast Cancer, BRCA1-associate Malignancies, BRCA2-associated Malignancies
- Trial name
- NCT00040222
- Where
- United States
- Volunteers
- 377 people
- Sponsor
- National Cancer Institute (NCI)
Cowden's Disease, Hamartoma Syndrome, Multiple
Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes
Background: People with phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartomatous tumor syndromes (PHTS) have a mutation in one of their genes called PTEN that can lead to benign tumors called hamartomas…
- Trial name
- NCT00971789
- Testing
- fludeoxyglucose F 18, sirolimus, Clinical Videography
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- National Cancer Institute (NCI)
Quality of Life
French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperplastic Polyposis
French cohorte about polyposis digestive diseases
- Trial name
- NCT01987518
- Testing
- Procedure surgery behavioral and genetic diagnosis, quality of life after different type of surgery
- Where
- France
- Volunteers
- 350 people
- Sponsor
- Hôpital Edouard Herriot
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations
The goal of this study is to examine the safety and treatment effects of sirolimus for targeting social communication deficits in people with genetic disorders associated with PTEN germline mutations, which are often referred to…
- Conditions
- PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome
- Trial name
- NCT06080165
- Testing
- Sirolimus
- Where
- 3 sites in United States
- Sponsor
- Stanford University
Cowden's Disease, Cowden's Syndrome
Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations
The goal of this study is to examine the safety and treatment effects of everolimus in adults and children with PTEN Hamartoma Tumor Syndrome (PHTS) who experience social difficulties.
- Conditions
- Cowden's Disease, Cowden's Syndrome, Lhermitte-Duclos Disease, Cerebellum Dysplastic Gangliocytoma
- Trial name
- NCT07218575
- Testing
- Everolimus blinded oral capsules
- Where
- 3 sites in United States
- Volunteers
- 60 people
- Sponsor
- Boston Children's Hospital
Breast Cancer Surgery
Long-term Safety of Nipple Sparing Mastectomy in Women With High Penetrance Breast Cancer Susceptibility Genes in Breast Cancer
Patients with a germline pathogenic variant (GPV) in high-penetrance breast cancer susceptibility genes who are considering risk reducing mastectomy (RRM) often strongly desire to keep their nipple areola complex but inquire as…
- Trial name
- NSM (NCT06888388)
- Testing
- Nipple Sparing Mastectomy (NSM), Skin-Sparing Mastectomy (SSM), Total (Simple) Mastectomy
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 4,700 people
- Sponsor
- Sir Mortimer B. Davis - Jewish General Hospital
Cancer, Breast Cancer
Liquid Biopsy Evaluation and Repository Development at Princess Margaret
The objective of this protocol is to develop an institution-wide liquid biopsy protocol that will establish a common process for collecting blood and corresponding archived tumor specimens for future research studies at the…
- Conditions
- Cancer, Breast Cancer, Lung Cancer, Colon Cancer
- Trial name
- LIBERATE (NCT03702309)
- Where
- Canada
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto
Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs.
- Conditions
- Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract, Neuroendocrine Neoplasm of Lung, Thymic Neuroendocrine Neoplasm
- Trial name
- NCT06523582
- Where
- 3 sites in Mexico
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Universidad Nacional Autonoma de Mexico
Li Fraumeni Syndrome, Lynch Syndrome
Inherited Cancer Early Diagnosis (ICED) Study
ICED is a prospective sample collection research study, aiming to develop or validate a blood/urine biomarker which could potentially detect cancers early in individuals at high risk of developing cancers, due to certain germline…
- Conditions
- Li Fraumeni Syndrome, Lynch Syndrome, Hereditary Diffuse Gastric Cancer, Cowden Syndrome
- Trial name
- ICED (NCT06163365)
- Where
- United Kingdom
- Volunteers
- 100 people
- Sponsor
- Royal Marsden NHS Foundation Trust
PTEN Hamartoma Syndrome
Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants
This is an observational study in pediatric patientis carryng PTEN pathogenic variants aimed to define oncological risk in children and provide a deeper insight of the clinical course, establishing an updated follow-up protocol.
- Trial name
- PTEN_Ped (NCT06805734)
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Solid Tumors, Breast Cancer
A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer
This is a phase I/II clinical research study with BGT226, an inhibitor of phosphatidylinositol 3'-kinase (PI3K). The study consists of a Phase I dose escalation part followed by a safety expansion part and a Phase II expansion…
- Conditions
- Solid Tumors, Breast Cancer, Cowden Syndrome
- Trial name
- NCT00600275
- Testing
- BGT226
- Where
- 6 sites in United States, Canada and 1 more
- Volunteers
- 57 people
- Sponsor
- Novartis Pharmaceuticals
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
Sirolimus for Cowden Syndrome With Colon Polyposis
Colon polyposis (the presence of multiple colon polyps) is very common with Cowden syndrome, as over 60% of patients have 50 or more polyps.
- Conditions
- PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome, Cowden Syndrome
- Trial name
- NCT04094675
- Testing
- Sirolimus
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Ohio State University
PTEN Gene Mutation
Cancer Risk Assessment in Patients With a Constitutional Alteration of the PTEN Gene
This is a multicentric, observational, retrospective and prospective study, aiming to estimate the risk of cancer occurrence in subjects carrying a PTEN mutation, based on the constitution of a national cohort.
- Trial name
- COCO (NCT05630105)
- Where
- 45 sites in France
- Volunteers
- 430 people
- Sponsor
- Institut Bergonié
Breast Cancer, Advanced Solid Tumors
A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast Cancer
This is a first-in-human, phase I/Ib clinical research study with BEZ235, an inhibitor of phosphatidylinositol 3'-kinase (PI3K).
- Conditions
- Breast Cancer, Advanced Solid Tumors, Cowden Syndrome
- Trial name
- NCT00620594
- Testing
- BEZ235
- Where
- 15 sites in United States, Germany and 3 more
- Volunteers
- 183 people
- Sponsor
- Novartis Pharmaceuticals