NCT00747760

Brief Summary

Resistance to thyrotropin (RTSH) is a condition of impaired responsiveness of the thyroid gland to TSH, characterized by elevated TSH, low or normal thyroid hormone levels, and hypoplastic or normal-sized thyroid gland. The aim of the present study was to evaluate the clinical course over time,the genotype-phenotype association and the frequency of two different TSH-receptor (TSHR) mutations in a highly consanguineous population of the town of Um-El-Fahem.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
209

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Dec 2005

Shorter than P25 for all trials

Geographic Reach
2 countries

2 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

December 1, 2005

Completed
7 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2006

Completed
5 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2006

Completed
1.8 years until next milestone

First Submitted

Initial submission to the registry

September 4, 2008

Completed
1 day until next milestone

First Posted

Study publicly available on registry

September 5, 2008

Completed
Last Updated

September 11, 2008

Status Verified

September 1, 2008

Enrollment Period

7 months

First QC Date

September 4, 2008

Last Update Submit

September 10, 2008

Conditions

Hypothyroidism

Keywords

TSH Receptor, resistance TSH, Hyperthyrortropinemia

Outcome Measures

Primary Outcomes (1)

  • Two specific TSHR mutations

    Finished

Study Arms (2)

1

Extended family members

2

Control- subjects from the same town without known thyroid diseases

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Subjects belonging to extended family of the index case

You may qualify if:

  • Subjects belonging to extended family of the index case

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Samuell Refetoff

Chicago, Illinois, 60637-1470, United States

Location

Ha'Emek Medical Center

Afula, 18101, Israel

Location

Related Publications (1)

  • Grasberger H, Van Sande J, Hag-Dahood Mahameed A, Tenenbaum-Rakover Y, Refetoff S. A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis. J Clin Endocrinol Metab. 2007 Jul;92(7):2816-20. doi: 10.1210/jc.2007-0366. Epub 2007 Apr 24.

    PMID: 17456567BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples were taken with EDTA and Genomic DNA was extracted from peripheral mononuclear cells using the Blood Amp Kit (QIAGEN Inc., Valencia, CA)

MeSH Terms

Conditions

Hypothyroidism

Condition Hierarchy (Ancestors)

Thyroid DiseasesEndocrine System Diseases

Study Officials

  • Yardena Tenenbaum-Rakover, MD

    Ha'Emelk Medical Center,Afula, Israel

    PRINCIPAL INVESTIGATOR

  • Samuel Refetoff, MD

    The University of Chicago, Chicago, Il, USA

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER

Study Record Dates

First Submitted

September 4, 2008

First Posted

September 5, 2008

Study Start

December 1, 2005

Primary Completion

July 1, 2006

Study Completion

December 1, 2006

Last Updated

September 11, 2008

Record last verified: 2008-09

Locations

IL(1)US(1)