Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2014 by University of British Columbia
Sponsor:
Information provided by (Responsible Party):
University of British Columbia
ClinicalTrials.gov Identifier:
NCT00474331
First received: May 14, 2007
Last updated: March 27, 2014
Last verified: March 2014
  Purpose

The investigator's goal for this project is to examine the causes of the wide variability of the expression of Hereditary Multiple Exostoses (HME). Previous work completed by our group shows that there exists a correlation between genotype and phenotype such that certain mutations or affected genes cause certain patterns of presentation, symptoms, and signs. The investigators intend to achieve this goal by increasing our study sample size to build upon the results generated from the pilot project of this study, in order to obtain statistical significance. This will be achieved by performing genotype-phenotype analysis on new families presenting with HME in British Columbia.


Condition
Exostoses, Multiple Hereditary

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Genotype-Phenotype Correlation of Multiple Hereditary Exostoses: Multicentre Project

Resource links provided by NLM:


Further study details as provided by University of British Columbia:

Estimated Enrollment: 2000
Study Start Date: June 2004
Estimated Study Completion Date: June 2023
Estimated Primary Completion Date: June 2023 (Final data collection date for primary outcome measure)
  Show Detailed Description

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

New patients presenting with HME will be identified through the offices and clinics of British Columbia Children's Hospital Orthopaedic Department.

Criteria

Inclusion Criteria:

  • Diagnosed with HME
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00474331

Contacts
Contact: Harpreet Chhina 604-875-2000 ext 6008 hchhina@cw.bc.ca

Locations
Canada, British Columbia
BC Children's Hospital Recruiting
Vancouver, British Columbia, Canada, V6H 3V4
Contact: Harpreet Chhina    604-875-2000 ext 6008    hchhina@cw.bc.ca   
Sponsors and Collaborators
University of British Columbia
Investigators
Principal Investigator: Christine Alvarez, MD University of British Columbia
  More Information

No publications provided

Responsible Party: University of British Columbia
ClinicalTrials.gov Identifier: NCT00474331     History of Changes
Other Study ID Numbers: H04-70223
Study First Received: May 14, 2007
Last Updated: March 27, 2014
Health Authority: Canada: Health Canada

Keywords provided by University of British Columbia:
DNA sequencing
EXT genes
Hereditary Multiple Exostoses,
also known as Multiple Hereditary Exostoses,
also known as Hereditary Multiple Osteochondromas

Additional relevant MeSH terms:
Exostoses
Exostoses, Multiple Hereditary
Osteochondroma
Osteochondromatosis
Osteophyte
Bone Diseases
Bone Diseases, Developmental
Genetic Diseases, Inborn
Hyperostosis
Musculoskeletal Diseases
Neoplasms
Neoplasms by Histologic Type
Neoplasms, Bone Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms, Connective Tissue
Neoplastic Syndromes, Hereditary
Osteochondrodysplasias

ClinicalTrials.gov processed this record on October 23, 2014