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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00474331
Recruitment Status : Suspended (Due to unavailability of testing for gene mutation)
First Posted : May 16, 2007
Last Update Posted : December 16, 2014
Information provided by (Responsible Party):
University of British Columbia

Brief Summary:
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 or disease
Exostoses, Multiple Hereditary

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Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Genotype-Phenotype Correlation of Multiple Hereditary Exostoses: Multicentre Project
Study Start Date : June 2004
Estimated Primary Completion Date : June 2023
Estimated Study Completion Date : June 2023

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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00474331

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Canada, British Columbia
BC Children's Hospital
Vancouver, British Columbia, Canada, V6H 3V4
Sponsors and Collaborators
University of British Columbia
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Principal Investigator: Christine Alvarez, MD University of British Columbia
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Responsible Party: University of British Columbia Identifier: NCT00474331    
Other Study ID Numbers: H04-70223
First Posted: May 16, 2007    Key Record Dates
Last Update Posted: December 16, 2014
Last Verified: December 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:
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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