Clinical trials: p53 Mutations
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)
Healthy Volunteers
A Study to Investigate the Effects of Acid Reducing Agents on Pharmacokinetics of PC14586 in Healthy Participants
This study will assess the effect of a Proton Pump Inhibitor (PPI) (rabeprazole) on the pharmacokinetics (PK) of PC14586 and the effect of an H2-receptor antagonist (famotidine) on the PK of PC14586
- Trial name
- NCT06054464
- Testing
- PC14586, Rabeprazole, Famotidine
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- PMV Pharmaceuticals, Inc
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
Education
Transition From Research to Disclosure in Human Genetics
The goal of this study is to design a means of providing research families, from diverse geographical locations, the chance to receive genetic testing after having been educated by video, and meetings or telephone conversations…
- Trial name
- NCT00505466
- Testing
- Genetic Counseling
- Where
- United States
- Volunteers
- 577 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center