Clinical trials: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Mitochondrial Disorders, Li-Fraumeni Syndrome
Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
This study will examine metabolic and biological factors in people with Li-Fraumeni syndrome, a rare hereditary disorder that greatly increases a person's susceptibility to cancer.
- Conditions
- Mitochondrial Disorders, Li-Fraumeni Syndrome, Carriers of p53 Mutation
- Trial name
- NCT00406445
- Where
- United States
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Breast Cancer, TP53 R337H
Phenotype and Prognosis of Patients With Breast Cancer and Pathogenic Variants of TP53
A prospective and retrospective cohort study of patients with a documented pathogenic or likely pathogenic variants of TP53 were identified using blood DNA colection and breast cancer diagnosis by histological confirmation…
- Conditions
- Breast Cancer, TP53 R337H, Li-Fraumeni Syndrome, Prognosis Breast Cancer
- Trial name
- BREAST-TP53 (NCT04966923)
- Testing
- No intervention in this study
- Where
- Brazil
- Volunteers
- 135 people
- Sponsor
- Instituto do Cancer do Estado de São Paulo
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)
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
Li-Fraumeni Syndrome
Willingness to Participate in a Trial Comparing Standard Genetic Counseling Versus Personalized Genetic Counseling
This study evaluates patients willingness to participate in a trial comparing standard genetic counseling versus personalized genetic counseling.
- Trial name
- NCT05126810
- Testing
- Questionnaire Administration
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- M.D. Anderson Cancer Center
Li-Fraumeni Syndrome
A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome
Background: Li Fraumeni Syndrome (LFS) is a highly penetrant, autosomal dominant cancer predisposition disorder. Four main cancer types including sarcoma, adrenocortical carcinoma, breast cancer, and malignant brain tumors…
- Trial name
- NCT01981525
- Testing
- Metformin
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- National Cancer Institute (NCI)
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
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.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
Hereditary Cancer Syndrome
CfDNA in Hereditary And High-risk Malignancies 2
The goal of this study is to understand the performance of an experimental blood test that aims to detect early tumors in patients with hereditary cancer syndromes.
- Trial name
- CHARM2 (NCT06726642)
- Testing
- Cell-free DNA analysis
- Where
- 8 sites in Canada
- Volunteers
- 1,000 people
- Sponsor
- University Health Network, Toronto
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Registry of Li Fraumeni and Li Fraumeni Like Syndromes
ReLF is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains…
- Trial name
- ReLF (NCT04982744)
- Where
- 2 sites in Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Ortopedico Rizzoli
Metabolic Disease, Obesity
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Background: Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels.
- Conditions
- Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy
- Trial name
- NCT01143454
- Testing
- NSR IDE-MRI: Research pulse sequences
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Li-Fraumeni Syndrome
Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome
This study is aimed at exploring the use of whole body MRI for early cancer detection in TP53 mutation carriers and population controls, with the hypothesis that more cancers will be detected in the TP53 mutation carrier group.
- Trial name
- SIGNIFY (NCT01737255)
- Testing
- Whole body MRI, Psychological questionnaires
- Where
- United Kingdom
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Institute of Cancer Research, United Kingdom
Pediatric Cancer, Li-Fraumeni Syndrome
Arsenic Trioxide Combined With Chemotherapy for the Treatment of p53-mutated Pediatric Cancer
This prospective, single-arm, multi-center clinical trial aims to explore and evaluate the efficacy and safety of arsenic trioxide combined with chemotherapy for pediatric cancer with p53 mutation.
- Conditions
- Pediatric Cancer, Li-Fraumeni Syndrome, p53 Mutations
- Trial name
- NCT06088030
- Testing
- Arsenic trioxide
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Yang Li
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, Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome/TP53 Biobank
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene.
- Trial name
- NCT04367246
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Li-Fraumeni Syndrome
Li-Fraumeni Syndrome Imaging Study
Li-Fraumeni Syndrome (LFS) is a cancer predisposition disorder in which most affected individuals develop cancer during their lifetime.
- Trial name
- NCT03176836
- Testing
- Whole body STIR MRI, DW-MRI, PET-MRI
- Where
- Canada
- Volunteers
- 30 people
- Sponsor
- The Hospital for Sick Children
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
Cancer, Skin Fibroblasts
Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome
Background: Nicotinamide riboside (NR) is a vitamin B3 dietary supplement. It may help improve muscle function, that may in turn may improve a person s exercise capacity.
- Conditions
- Cancer, Skin Fibroblasts, Muscle Weakness
- Trial name
- NCT03789175
- Testing
- Nicotinamide Riboside (NR)
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Li-Fraumeni Syndrome, TP53 Gene Mutation
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g.
- Conditions
- Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis
- Trial name
- LiFT_UP (NCT04541654)
- Testing
- Data and Specimen Collection
- Where
- 3 sites in United States
- Volunteers
- 1,500 people
- Sponsor
- Dana-Farber Cancer Institute
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