Genotype-phenotype correlation in multiple endocrine neoplasia type 1.
Charlita C Worthy, Rana Tora, Chandra N Uttarkar...
https://pubmed.ncbi.nlm.nih.gov/39946193Actively Recruiting
Age: 6Months - 100Years
All Genders
ID04969926
Natural History Study of Parathyroid Disorders
Led by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) · Updated on 2026-05-12
3000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Parathyroid disorders, which affect calcium-phosphate balance in the body, are common and include conditions of excess, deficiency, or signaling defects involving parathyroid hormone (PTH). This research aims to investigate the causes of these disorders, including genetic factors, and to understand their natural history and progression, especially in syndromic cases like multiple endocrine neoplasia and hyperparathyroidism-jaw tumor syndrome. Participants who have, are suspected of having, or are at risk for parathyroid or related disorders will receive standard care testing and treatment as needed. The study collects data including biospecimens such as saliva, blood, urine, stool, cheek cell samples, and for adults, possibly skin biopsies. Medical photos and leftover tissue from surgeries may also be collected. Visits can be in person or via telehealth and continue as long as participants receive care. During the study, participants will complete questionnaires about their physical, mental, and social health. Researchers will review medical records, perform clinical testing, and analyze collected samples to identify biomarkers and investigate disease mechanisms. The main outcomes include molecular profiling of biospecimens and exploring causes of parathyroid disorders over five years. Participants remain in the study while under medical care, with ongoing monitoring of their health and disease status.
CONDITIONS
Brief Title
Natural History Study of Parathyroid Disorders
Who Can Participate
Age: 6Months - 100Years
All Genders
Eligibility Criteria
You may qualify if you...
- Subjects known to have, suspected of having, or at risk of developing a parathyroid or related disorder.
- Age �3 months or older.
You will not qualify if you...
- Children 6 months old or younger.
- Patients with conditions that may interfere with the study objectives according to investigators.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Monitoring
Duration - Up to 5 years
Participants who undergo routine care are observed, and data along with biospecimens are collected to study the natural history and molecular profile of parathyroid disorders.
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
C
Craig S Cochran, R.N.
S
Smita Jha, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Published Research Related To This Trial
Invasive Testing for Preoperative Localization of Parathyroid Tumors.
Akua Graf, Craig Cochran, Samira Sadowski...
https://pubmed.ncbi.nlm.nih.gov/38174154Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.
Rana Tora, James Welch, Jian Sun...
https://pubmed.ncbi.nlm.nih.gov/37339334Case Report: Nine-year-old with parathyroid adenoma within the piriform sinus.
Anna Zenno, Bhavishya Ramamoorthy, Dima A Hammoud...
https://pubmed.ncbi.nlm.nih.gov/37288292Long-Term Outcomes of Parathyroid Autografts in Primary Hyperparathyroidism.
Elias Chuki, Akua Graf, Anisha Ninan...
https://pubmed.ncbi.nlm.nih.gov/37284613