This site became the new on June 19th. Learn more.
Show more Menu IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu IMPORTANT: Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu
Give us feedback
Trial record 2 of 3 for:    "Hereditary multiple osteochondromas"

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

This study has suspended participant recruitment.
(Due to unavailability of testing for gene mutation)
Information provided by (Responsible Party):
University of British Columbia Identifier:
First received: May 14, 2007
Last updated: December 12, 2014
Last verified: December 2014
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.

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:

Primary Outcome Measures:
  • orthopedic symptoms as assessed by X-ray measurements [ Time Frame: Post gene mutation identification ]

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


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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.

Inclusion Criteria:

  • Diagnosed with HME

Exclusion Criteria

  • Subjects residing outside British Columbia for whom genetic testing and X-ray measurements cannot be taken onsite at BC Children's hospital
  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 identifier: NCT00474331

Canada, British Columbia
BC Children's Hospital
Vancouver, British Columbia, Canada, V6H 3V4
Sponsors and Collaborators
University of British Columbia
Principal Investigator: Christine Alvarez, MD University of British Columbia
  More Information

Responsible Party: University of British Columbia Identifier: NCT00474331     History of Changes
Other Study ID Numbers: H04-70223
Study First Received: May 14, 2007
Last Updated: December 12, 2014

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, Multiple Hereditary
Bone Diseases
Musculoskeletal Diseases
Neoplasms, Bone Tissue
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Bone Diseases, Developmental
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn processed this record on June 23, 2017