Gene Expression in Hyperparathyroidism

Gene Expression in Hyperparathyroidism: Identifying Molecular Differences in MEN1 Patients Versus Young MEN1 Negative Patients

Status

Terminated

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03044600

Enrollment

Registered

2017-02-07

Start date

2012-11-07

Completion date

2017-10-18

Last updated

2019-05-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hyperparathyroidism, Parathyroid Disease

Keywords

Parathyroid disease, Hyperparathyroidism, Chart review, MEN1-negative, HRPT2 mutations

Brief summary

Objectives: 1. To better define the differences in molecular genetics of parathyroid tumors in patients with MEN1, single gland parathyroid disease in patients less than 50 years old and single gland disease in patients greater than 50 years old. 2. To better define the incidence of HRPT2 mutation in young patients with primary hyperparathyroidism and determine whether routine testing in these patients is indicated.

Detailed description

Patient charts will be reviewed to collect demographic data, pre-operative and post-operative clinical and laboratory data, operative reports, and pathology reports. Archived formalin-fixed paraffin-embedded (FFPE) tissue blocks from surgical specimens of patients will be stained for parafibromin to evaluate for HRPT2 mutations.

Interventions

OTHERChart Review

Patient charts will be reviewed to collect demographic data, pre-operative and post-operative clinical and laboratory data, operative reports, and pathology reports.

OTHERHRPT2 Mutation Evaluation

Archived formalin-fixed paraffin-embedded (FFPE) tissue blocks from surgical specimens of patients stained for parafibromin to evaluate for HRPT2 mutations.

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Inclusion criteria

1. All patients previously enrolled in parathyroid tissue banking under protocol Lab08-0034. 2. For the subgroup designated for HRPT2 mutation testing: Patients with primary hyperparathyroidism who are younger than 50 years of age and have tested negative for MEN1, between January 1, 1980 and the present.

Exclusion criteria

N/A

Design outcomes

Primary

Measure	Time frame	Description
Molecular Genetics of Parathyroid Tumors	10 years	RNA isolated from banked frozen tissues. cDNA microarray prepared using an Illumina array chip. Results analyzed using Ingenuity analysis software to detect 2-fold changes in gene expression. T-statistics used to determine significantly discriminating genes.

Secondary

Measure	Time frame	Description
HRPT2 Mutations	10 years	Archived formalin-fixed paraffin-embedded (FFPE) tissue blocks from surgical specimens of patients stained for parafibromin to evaluate for HRPT2 mutations.

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026