Status:
COMPLETED
Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
Lead Sponsor:
National Heart, Lung, and Blood Institute (NHLBI)
Conditions:
Mitochondrial Disorders
Li-Fraumeni Syndrome
Eligibility:
All Genders
18-100 years
Brief Summary
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. Patients have a mut...
Detailed Description
We have previously reported that TP53 (encoding p53 protein), one of the most frequently mutated genes in human cancers, dose dependently modulates the balance between the utilization of oxidative and...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- At least 18 years of age and able to give informed consent
- In overall good physical and mental health;
- Able to exercise on a treadmill (if participating in the treadmill exercise portion).
- Able to perform hand or leg exercises (if participating in the MRS portion)
- Able to undserstand and sign consent
- Have been diagnosed with the Li-Fraumeni Syndrome or have a family member with the Li-Fraumeni Syndrome or have been diagnosed with mitochondrial disorder or be a healthy volunteer
- EXCLUSION CRITERIA:
- Cancer patients undergoing or requiring systemic treatment
Exclusion
Key Trial Info
Start Date :
January 23 2007
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 22 2021
Estimated Enrollment :
82 Patients enrolled
Trial Details
Trial ID
NCT00406445
Start Date
January 23 2007
End Date
March 22 2021
Last Update
November 22 2021
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892